MPZ - myelin protein zero Gene

Homo sapiens

Also known as P0; CHM; DSS; MPP; CHN2; CMT1; CMT1B; CMT2I; CMT2J; CMT4E; CMTDI3; CMTDID; HMSNIB

Gene ID: 4359 | Gene type: protein coding

About MPZ

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:161,303,600-161,309,968 (from NCBI)

This gene has 9 transcripts (splice variants), 176 orthologues, 6 paralogues and is associated with 16 phenotypes. Broad expression in fat (RPKM 6.2), prostate (RPKM 4.2) and 20 other tissues.

Summary

This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I Transmembrane Glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and Other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]

MPZ Products(2)

mRNA	Protein	Name
NM_000530.8	NP_000521.2	myelin protein P0 isoform MPZ precursor
NM_001315491.2	NP_001302420.1	myelin protein P0 isoform L-MPZ precursor

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in cell aggregation	IMP IMP: Inferred from mutant phenotype	18337304	GOA
involved in cell-cell adhesion via plasma-membrane adhesion molecules	IMP IMP: Inferred from mutant phenotype	18337304	GOA
involved in myelination	IMP IMP: Inferred from mutant phenotype	10545037	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	18337304	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MPZ Protein Structure

V-set

Myelin-PO_C

0
100
200
248 a.a.

Protein Preferred Names

Protein Names

myelin protein P0

Charcot-Marie-Tooth neuropathy 1B

Recombinant MPZ Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70328	Myelin protein P0/MPZ Protein, Human (HEK293, His)	P25189-1 (I30-R153)	≥95%

Related Diseases

Diseases

Alias

Hypertrophic Neuropathy Of Dejerine-Sottas

Dejerine-Sottas Disease	Dejerine-Sottas Syndrome
Charcot-Marie-Tooth Disease Type 3	DSS
Hereditary Motor And Sensory Neuropathy Type Iii	Hmsn3
Dejerine-Sottas Neuropathy	Hmsn Iii
Charcot-Marie-Tooth Disease, Type 3	Cmt3
Dsn	Hmsn 3
Hereditary Motor And Sensory Neuropathy Type 3	Hereditary Motor And Sensory Neuropathy 3
Hypertrophic Neuropathy Of Infancy	Charcot-Marie-Tooth Disease Demyelinating Type 4f
Charcot-Marie-Tooth Disease Type 4f	Charcot-Marie-Tooth Neuropathy Type 4f
Cmt4f	Hereditary Motor And Sensory Neuropathy Iii
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Charcot-Marie-Tooth Disease Type 1b	CMT1B
Hereditary Motor And Sensory Neuropathy Ib	Hmsn Ib
Hmsn1b	Peroneal Muscular Atrophy
Charcot-Marie-Tooth Disease, Type 1b	Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy
Charcot-Marie-Tooth Neuropathy Type 1b	Charcot-Marie-Tooth Disease, Type Ib
Hereditary Motor And Sensory Neuropathy I	Hmsn I
Hmsn1	Charcot-Marie-Tooth Neuropathy, Type 1b
Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy	Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b
Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b	Charcot-Marie-Tooth Disease 1b
Charcot-Marie-Tooth Disease Demyelinating Type 1b	Hmsn Type I
Hereditary Motor And Sensory Neuropathy Type I	Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease, Axonal, Type 2i

CMT2I	Charcot-Marie-Tooth Disease, Type 2i
Charcot-Marie-Tooth Disease Type 2i	Charcot-Marie-Tooth Neuropathy Type 2i
Charcot-Marie-Tooth Neuropathy, Type 2i	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i
Charcot-Marie-Tooth Disease 2i	Charcot-Marie-Tooth Disease Axonal Type 2i
Charcot-Marie-Tooth Disease Neuronal Type 2i

Charcot-Marie-Tooth Disease, Axonal, Type 2j

CMT2J	Charcot-Marie-Tooth Disease, Type 2j
Charcot-Marie-Tooth Disease Type 2j	Charcot-Marie-Tooth Disease Type 2 With Hearing Loss And Pupillary Abnormalities
Charcot-Marie-Tooth Neuropathy Type 2j	Charcot-Marie-Tooth Neuropathy, Type 2j
Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j
Charcot-Marie-Tooth Disease 2j	Charcot-Marie-Tooth Disease Axonal Type 2j
Charcot-Marie-Tooth Disease Neuronal Type 2j

Charcot-Marie-Tooth Disease, Dominant Intermediate D

CMTDID	Charcot-Marie-Tooth Disease Dominant Intermediate D
Di-Cmtd	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type D
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D	Charcot-Marie-Tooth Neuropathy Dominant Intermediate D
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, D	Charcot-Marie-Tooth Disease, Dominant Intermediate, Type D

Roussy-Levy Hereditary Areflexic Dystasia

Roussy-Levy Syndrome	Roussy-Lévy Syndrome
Charcot-Marie-Tooth Disease	Roussy Levy Syndrome
Charcot-Marie-Tooth-Roussy-Levy Disease	Hmsn I
Hereditary Motor Sensory Neuropathy I	Hereditary Areflexic Dystasia
Roussy Levy Hereditary Areflexic Dystasia	Roussy-Levy Disease
Hereditary Areflexic Dystasia, Roussy-Levy Type	ROULS
Hereditary Motor And Sensory Neuropathy Type I

Neuropathy, Congenital Hypomyelinating, 2

Hypomyelinating Neuropathy, Congenital, 2

CHN2

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease With Neuropathic Pain

Autosomal Dominant Intermediate Cmt Disease With Neuropathic Pain

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Charcot-Marie-Tooth Disease And Deafness

Charcot-Marie-Tooth Disease Type 1e	CMT1E
Charcot-Marie-Tooth Disease Type 1	Hereditary Motor And Sensory Neuropathy Type 1
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e	Charcot-Marie-Tooth Disease, Type I
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant	Charcot-Marie-Tooth Disease, Type 1e
Charcot-Marie-Tooth Disease Demyelinating Type 1e	Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
Cmt1	Charcot-Marie-Tooth Neuropathy Type 1
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness	Charcot-Marie-Tooth Disease-Deafness
Charcot-Marie-Tooth Type 1	Hmsn1
Hereditary Motor And Sensory Neuropathy 1	Cmt 1e
Charcot Marie Tooth Disease Type 1e	Charcot-Marie-Tooth Disease-Deafness Syndrome
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome	Charcot-Marie-Tooth Disease 1e
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant	Charcot-Marie-Tooth Neuropathy Type 1e
Charcot-Marie-Tooth Disease, Type Ie	Hereditary Motor And Sensory Neuropathy Type I

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii	Distal Hereditary Motor Neuropathy Type 2
Distal Hereditary Motor Neuropathy Type Ii	Hmn Ii
Hmn2	Distal Hereditary Motor Neuronopathy, Type Ii
Distal Spinal Muscular Atrophy Type 2	Dhmn2
Dsma2	Neuropathy, Motor, Distal, Hereditary, Type Ii
Spinal Muscular Atrophy, Jerash Type

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Sensory Peripheral Neuropathy

Sensory Neuropathy	Peripheral Sensory Neuropathy
Hereditary Sensory And Autonomic Neuropathies

Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Chronic Inflammatory Demyelinating Polyneuropathy	Cidp
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

Keratoderma, Palmoplantar, With Nail Dystrophy And Hereditary Motor-Sensory Neuropathy

Axonal Neuropathy With Palmoplantar Keratoderma	Charcot-Marie-Tooth Disease With Palmoplantar Keratoderma And Nail Dystrophy
Keratoderma Palmoplantar Spastic Paralysis	Palmoplantar Keratoderma-Spastic Paralysis Syndrome
Powell-Venencie-Gordon Syndrome	Palmoplantar Hyperkeratosis-Spastic Paralysis Syndrome
Palmoplantar Keratoderma-Hereditary Motor And Sensory Neuropathy Syndrome	Palmoplantar Keratoderma-Charcot-Marie-Tooth Syndrome
Powell Venencie Gordon Syndrome

Neuritis

Peripheral Neuritis

Guillain-Barre Syndrome

Guillain-Barré Syndrome	Acute Inflammatory Polyneuropathy
Gbs	Acute Inflammatory Demyelinating Polyneuropathy
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute Infective Polyneuritis
Acute Inflammatory Demyelinating Polyradiculopathy	Acute Postinfectious Polyneuropathy
Infectious Neuronitis	Post-Infectious Polyneuritis
Postinfectious Polyneuritis	Acute Autoimmune Peripheral Neuropathy
Acute Immune-Mediated Polyneuropathy	Acute Inflammatory Neuropathy
Guillain-Barré-Strohl Syndrome	Landry'S Ascending Paralysis
Landry-Guillain-Barre-Strohl Syndrome	Post-Infective Polyneuritis
Acute Infectious Polyneuritis	Fisher Syndrome
Landry-Guillain-Barre Syndrome	Guillain-Barre-Strohl Syndrome
Variant Of Guillain-Barre Syndrome	Variant Of Gbs
Aidp	Acute Idiopathic Demyelinating Polyneuropathy
Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form	Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form
Miller Fisher Syndrome

Genetic Motor Neuron Disease

Genetic Anterior Horn Cell Disease

Adie Pupil

Adie Syndrome	Holmes-Adie Syndrome
Poorly Reacting Pupils	Adie'S Pupil Or Syndrome
Adie'S Pupil Syndrome	Adie'S Syndrome
Adie'S Pupil	Has
Tonic, Sluggishly Reacting Pupil And Hypoactive Or Absent Tendon Reflexes	Tonic Pupil-Tendon Areflexia Syndrome
ADIEP	Tonic Pupil

Hereditary Neuropathies

Hereditary Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Charcot-Marie-Tooth Disease Type 1a	CMT1A
Charcot-Marie-Tooth Disease, Type Ia	Hmsn1a
Hereditary Motor And Sensory Neuropathy Ia	Hmsn Ia
Charcot-Marie-Tooth Neuropathy, Type 1a	Charcot-Marie-Tooth Disease, Type 1a
Charcot-Marie-Tooth Neuropathy Type 1a	Hereditary Motor And Sensory Neuropathy 1a
Microduplication 17p12	Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a
Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a	Cmt 1a
Charcot Marie Tooth Disease Type 1a	Hmsn 1a
Charcot-Marie-Tooth Disease 1a	Charcot-Marie-Tooth Disease Demyelinating Type 1a
Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy

Pelizaeus-Merzbacher Disease

PMD	HLD1
Pelizaeus-Merzbacher Brain Sclerosis	Leukodystrophy, Hypomyelinating, 1
Diffuse Familial Brain Sclerosis	Pelizaeus Merzbacher Brain Sclerosis
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type	Cockayne-Pelizaeus-Merzbacher Disease
Hypomyelinating Leukodystrophy 1	Leukodystrophy, Sudanophilic
Pelizaeus Merzbacher Disease	Hypomyelinating Leukodystrophy, 1
Sudanophilic Leukodystrophy	Pelizaeus-Merzbacher Disease, Connatal Form
Connatal Pmd	Pelizaeus-Merzbacher Disease Type Ii
Severe Pmd	Null Syndrome
Plp1 Null Syndrome	Pelizaeus-Merzbacher Disease, Null Syndrome
Brain Sclerosis Diffuse Familial	Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
Leukodystrophy Hypomyelinating 1	Diffuse Cerebral Sclerosis Of Schilder

Tremor

Medicament-Induced Tremor

Medication-Induced Postural Tremor

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Polyradiculoneuropathy

Wallerian Degeneration

Wallerian Degeneration Of The Pyramidal Tract

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Polyneuropathy

Polyneuropathies

Optic Neuritis

Inflammatory Optic Neuropathy

Demyelinating Disease

Demyelinating Diseases

Demyelinating Disorder

Neuropathy, Hereditary, With Liability To Pressure Palsies

Tomaculous Neuropathy	Hereditary Neuropathy With Liability To Pressure Palsies
HNPP	Polyneuropathy, Familial Recurrent
Neuropathy, Recurrent, With Pressure Palsies	Current Pressure-Sensitive Neuropathy
Familial Recurrent Polyneuropathy	Heterozygous Microdeletion 17p11.2p12
Potato-Grubbing Palsy	Tulip-Bulb Digger'S Palsy
Compression Neuropathy	Entrapment Neuropathy
Familial Pressure Sensitive Neuropathy	Hereditary Motor And Sensory Neuropathy
Hereditary Pressure Sensitive Neuropathy	Inherited Tendency To Pressure Palsies
Hereditary Liability To Pressure Palsies	Nerve Compression Syndrome
Entrapment Neuropathies	Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease Type X

Diabetic Neuropathy

Diabetic Neuropathies

Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Charcot-Marie-Tooth Disease Type 1c	CMT1C
Hmsn1c	Hmsn Ic
Charcot-Marie-Tooth Disease, Type 1c	Charcot-Marie-Tooth Neuropathy Type 1c
Cmt, Slow Nerve Conduction Type C	Charcot-Marie-Tooth Neuropathy, Type 1c
Neuropathy, Hereditary Motor And Sensory, Type Ic	Cmt Slow Nerve Conduction Type C
Neuropathy Hereditary Motor And Sensory Type 1c	Charcot-Marie-Tooth Disease 1c
Charcot-Marie-Tooth Disease Demyelinating Type 1c	Hereditary Motor And Sensory Neuropathy Ic
Charcot-Marie-Tooth Disease, Type Ic

Charcot-Marie-Tooth Disease, Demyelinating, Type 1d

Charcot-Marie-Tooth Disease Type 1d	CMT1D
Hmsn Id	Hmsn1d
Charcot-Marie-Tooth Disease, Type 1d	Hereditary Motor And Sensory Neuropathy 1d
Charcot-Marie-Tooth Neuropathy Type 1d	Charcot-Marie-Tooth Neuropathy, Type 1d
Charcot-Marie-Tooth Disease 1d	Charcot-Marie-Tooth Disease Demyelinating Type 1d
Hereditary Motor And Sensory Neuropathy Id	Charcot-Marie-Tooth Disease, Type Id

Charcot-Marie-Tooth Disease, Type 4c

Charcot-Marie-Tooth Disease Type 4c	CMT4C
Charcot-Marie-Tooth Neuropathy Type 4c	Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c
Charcot-Marie-Tooth Neuropathy, Type 4c	Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c
Charcot-Marie-Tooth Disease 4c	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

CMTX1	Cmtx
Charcot-Marie-Tooth Disease X-Linked Dominant 1	Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1
X-Linked Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked
Cmt1x	X-Linked Charcot-Marie-Tooth Disease Type 1
X-Linked Hereditary Motor And Sensory Neuropathy	Hereditary Motor And Sensory Neuropathy, X-Linked
Hmsn, X-Linked	Charcot-Marie-Tooth Neuropathy, X-Linked, 1
Cmt2, Formerly	Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1
Charcot-Marie-Tooth Neuropathy X-Linked 1	Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked
Hereditary Motor And Sensory Neuropathy X-Linked	Hmsn X-Linked
Charcot-Marie-Tooth, X-Linked	Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1
Charcot-Marie-Tooth Disease, X-Linked, 1

Carpal Tunnel Syndrome

Cts	Carpal Tunnel Syndrome, Familial
Carpal Tunnel Syndrome 1	CTS1
Amyotrophy, Thenar, Of Carpal Origin	Carpal Tunnel Median Neuropathy
Cts - Carpal Tunnel Syndrome	Median Nerve Entrapment
Carpal Canal	Carpal Tunnel
Compression Neuropathy, Carpal Tunnel	Distal Median Nerve Compression
Distal Median Nerve Entrapment	Entrapment Neuropathy, Carpal Tunnel
Median Neuropathy, Carpal Tunnel	Median Neuropathy Carpal Tunnel
Thenar Amyotrophy Of Crapal Origin

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Charcot-Marie-Tooth Disease Type 1f	CMT1F
Charcot-Marie-Tooth Disease, Type 1f	Charcot-Marie-Tooth Neuropathy Type 1f
Charcot-Marie-Tooth Neuropathy, Type 1f	Charcot-Marie-Tooth Disease Type 2b5
Ar-Cmt2b5	Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5
Seoan Due To Nefl Deficiency	Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency
Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency	Charcot-Marie-Tooth Disease 1f
Charcot-Marie-Tooth Disease Demyelinating Type 1f	Charcot-Marie-Tooth Disease, Type If

Argyll Robertson Pupil

Atypical Argyll-Robertson Pupil	Argyll Robertson Phenomenon Or Pupil, Nonsyphilitic
Argyll Robertson Pupil, Atypical

Abnormal Pupillary Function

Autoimmune Peripheral Neuropathy

Charcot-Marie-Tooth Disease, Axonal, Type 2b

Charcot-Marie-Tooth Disease Type 2b	CMT2B
Hmsn Iib	Hmsn2b
Charcot-Marie-Tooth Disease, Type 2b	Hereditary Motor And Sensory Neuropathy Iib
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b	Charcot-Marie-Tooth Neuropathy Type 2b
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b	Charcot-Marie-Tooth Neuropathy, Type 2b
Hereditary Motor And Sensory Nueropathy Iib	Cmt 2b
Charcot Marie Tooth Disease Type 2b	Charcot-Marie-Tooth Disease, Neuronal, Type 2b
Hereditary Motor And Sensory Neuropathy 2 B	Peripheral Sensory Neuropathy, Autosomal Dominant
Charcot-Marie-Tooth Disease 2b	Charcot-Marie-Tooth Disease Axonal Type 2b
Charcot-Marie-Tooth Disease Neuronal Type 2b	Peripheral Sensory Neuropathy Autosomal Dominant
Psn

Charcot-Marie-Tooth Disease, Axonal, Type 2a1

CMT2A1	Charcot-Marie-Tooth Disease Type 2a1
Hereditary Motor And Sensory Neuropathy Iia1	Hmsn Iia1
Hmsn2a1	Charcot-Marie-Tooth Disease, Type 2a1
Charcot-Marie-Tooth Disease Neuronal Type 2a1	Charcot-Marie-Tooth Neuropathy Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1	Charcot-Marie-Tooth Disease, Neuronal, Type 2a1
Charcot-Marie-Tooth Neuropathy, Type 2a1	Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1	Charcot-Marie-Tooth Disease 2a1
Charcot-Marie-Tooth Disease Axonal Type 2a1

Metachromatic Leukodystrophy

Arylsulfatase A Deficiency	MLD
Arsa Deficiency	Sulfatide Lipidosis
Metachromatic Leukoencephalopathy	Cerebral Sclerosis, Diffuse, Metachromatic Form
Cerebroside Sulfatase Deficiency	Leukodystrophy, Metachromatic
Pseudoarylsulfatase A Deficiency	Leukodystrophy Metachromatic
Sulfatidosis	Metachromatic Leukodystrophy, Late Infantile
Metachromatic Leukodystrophy Variant	Deficiency Of Cerebroside-Sulfatase
Scholz Cerebral Sclerosis	Sulfatide Lipoidosis
Cerebral Sclerosis Diffuse Metachromatic Form	Arylsulfatase A Deficiency Disease
Cerebroside Sulphatase Deficiency Disease	Greenfield Disease
Metachromatic Leukodystrophy, Adult	Metachromatic Leukodystrophy, Juvenile
Leukodystrophy Metachromatic Adult	Leukodystrophy Metachromatic Juvenile
Leukodystrophy Metachromatic Late Infantile	Metachromatic Leukodystrophy, Adult Type
Metachromatic Leukodystrophy, Juvenile Type	Metachromatic Leukodystrophy, Infant
Greenfield'S Disease

Multiple Sclerosis

MS	Multiple Sclerosis, Susceptibility To
Disseminated Sclerosis	Multiple Sclerosis, Disease Progression, Modifier Of
Insular Sclerosis	Multiple Sclerosis Modifier Of Disease Progression
Multiple Sclerosis, Susceptibility To 1	Multiple Sclerosis, Susceptibility To, 1
Multiple Sclerosis 1	Generalized Multiple Sclerosis
Multiple Sclerosis Variant	Multiple Sclerosis Susceptibility To
Cerebrospinal Sclerosis	Generalised Multiple Sclerosis
Ms - [Multiple Sclerosis]	Disseminated Cerebrospinal Sclerosis
Disseminated Multiple Sclerosis	Disseminated Nervous System Myelosclerosis
Multiple Cerebrospinal Sclerosis	Multiple Combined Sclerosis
Multiple Sclerosis Generalised	Disseminated Brain Sclerosis
Disseminated Spinal Sclerosis	Insular Brain Sclerosis
Miliary Brain Sclerosis	Multiple Combined Sclerosis Of Spinal Cord
Multiple Ascending Sclerosis	Multiple Brain Sclerosis
Multiple Sclerosis Of Brain Stem	Multiple Sclerosis Of The Brain Stem
Multiple Sclerosis Of Cord	Sclérose En Plaques
Plaque Sclerosis	Multiple Sclerosis Of The Spinal Cord

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease

Pcwh Syndrome	PCWH
Neurologic Waardenburg-Shah Syndrome	Waardenburg-Shah Syndrome, Neurologic Variant
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome	Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ws4 Plus	Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease
Waardenburg-Shah Syndrome Neurologic Variant

Charcot-Marie-Tooth Disease, Axonal, Type 2b2

Charcot-Marie-Tooth Disease Type 2b2	CMT2B2
Arcmt2b	Charcot-Marie-Tooth Disease, Type 2b2
Ar-Cmt2b2	Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2
Autosomal Recessive Axonal Cmt4c3	Charcot-Marie-Tooth Disease Neuronal Type 2b2
Charcot-Marie-Tooth Neuropathy Type 2b2	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2
Charcot-Marie-Tooth Disease, Neuronal, Type 2b2	Charcot-Marie-Tooth Neuropathy, Type 2b2
Charcot-Marie-Tooth Disease 2b2	Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2
Charcot-Marie-Tooth Disease Axonal Type 2b2

Hereditary Motor And Sensory Neuropathy, Type Iic

CMT2C	Charcot-Marie-Tooth Disease Axonal Type 2c
HMSN2C	Hmsn Iic
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c	Charcot-Marie-Tooth Neuropathy Type 2c
Hereditary Motor And Sensory Neuropathy Type Iic	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c
Charcot-Marie-Tooth Neuropathy, Type 2c	Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c
Charcot-Marie-Tooth Disease 2c	Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c
Charcot-Marie-Tooth Disease, Type 2c

Deafness, Autosomal Dominant 7

DFNA7	Autosomal Dominant Nonsyndromic Deafness 7
Autosomal Dominant Deafness 7	Deafness, Autosomal Dominant, 7
Deafness, Autosomal Dominant, Type 7

Niemann-Pick Disease, Type A

Niemann-Pick Disease Type A	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency	Niemann-Pick Disease, Intermediate, Protracted Neurovisceral
Acid Sphingomyelinase Deficiency, Neurovisceral Type	Asmd, Neurovisceral Type
Infantile Neurovisceral Acid Sphingomyelinase Deficiency	Infantile Neurovisceral Asmd
Npd-A	Niemann-Pick Disease A
NPDA	Classical Niemann-Pick Disease
Niemann-Pick Disease Acute Neuronopathic Form	Niemann-Pick Disease Acute Neurovisceral Form
Niemann-Pick Disease Classical Infantile Form	Niemann-Pick Disease Intermediate Protracted Neurovisceral
Niemann-Pick Disease Neuronopathic Type	Niemann-Pick Disease Type I
Npa	Niemann-Pick Diseases

Pupil Disease

Pupil Disorders

Pupillary Disorder

Charcot-Marie-Tooth Disease, Axonal, Type 2f

Charcot-Marie-Tooth Disease Axonal Type 2f	CMT2F
Charcot-Marie-Tooth Disease, Neuronal, Type 2f	Charcot-Marie-Tooth Neuropathy, Type 2f
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f	Charcot-Marie-Tooth Neuropathy Type 2f
Charcot-Marie-Tooth Neuronal Type 2f	Charcot-Marie-Tooth Disease Type 2f
Cmt 2f	Charcot Marie Tooth Disease Type 2f
Charcot-Marie-Tooth Disease 2f	Charcot-Marie-Tooth Disease Neuronal Type 2f
Charcot-Marie-Tooth Disease, Type 2f

Demyelinating Polyneuropathy

Peripheral Demyelinating Neuropathy

Demyelinating Peripheral Neuropathy

Charcot-Marie-Tooth Disease, Axonal, Type 2d

Charcot-Marie-Tooth Disease Type 2d	CMT2D
Charcot-Marie-Tooth Disease, Type 2d	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d
Charcot-Marie-Tooth Disease Neuronal Type 2d	Charcot-Marie-Tooth Neuropathy Type 2d
Charcot-Marie-Tooth Disease, Neuronal, Type 2d	Charcot-Marie-Tooth Neuropathy, Type 2d
Charcot-Marie-Tooth Disease 2d	Charcot-Marie-Tooth Disease Axonal Type 2d

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Charcot-Marie-Tooth Disease Type 4f	CMT4F
Charcot-Marie-Tooth Disease, Type 4f	Charcot-Marie-Tooth Disease 4f
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f	Charcot-Marie-Tooth Neuropathy Type 4f
Dejerine-Sottas Disease

Charcot-Marie-Tooth Disease, Type 4a

Charcot-Marie-Tooth Disease Type 4a	CMT4A
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a	Charcot-Marie-Tooth Neuropathy, Type 4a
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a	Charcot-Marie-Tooth Neuropathy Type 4a
Charcot-Marie-Tooth Disease 4a	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a
Charcot-Marie-Tooth Disease Neuropathy Type 4a

Charcot-Marie-Tooth Disease, Dominant Intermediate B

CMTDIB	Charcot-Marie-Tooth Disease Dominant Intermediate B
Di-Cmtb	Cmtdi1
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m	Charcot-Marie-Tooth Neuropathy Dominant Intermediate B
CMT2M	Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Axonal Type 2m	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Charcot-Marie-Tooth Disease 2m	Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m
Charcot-Marie-Tooth Disease Axonal Type 2m	Charcot-Marie-Tooth Neuropathy Axonal Type 2m
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B	Charcot-Marie-Tooth Disease, Axonal, Type 2m
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B

Neuromyotonia And Axonal Neuropathy, Autosomal Recessive

Gamstorp-Wohlfart Syndrome	Autosomal Recessive Axonal Neuropathy With Neuromyotonia
NMAN	Myokymia, Myotonia, And Muscle Wasting
Aran-Nm	Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 With Neuromyotonia
Autosomal Recessive Neuromyotonia And Axonal Neuropathy	Arcmt2-Nm
Myokymia, Myotonia And Muscle Wasting	Myokymia Myotonia And Muscle Wasting
Isaacs Syndrome

Chromosome 10q23 Deletion Syndrome

Charcot-Marie-Tooth Disease Intermediate Type

Intermediate Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease Dominant Intermediate
Charcot-Marie-Tooth Disease Recessive Intermediate	Intermediate Cmt
Intermediate Hereditary Motor And Sensory Neuropathy	Charcot-Marie-Tooth Disease, Intermediate Type
Charcot-Marie-Tooth, Intermediate

Charcot-Marie-Tooth Disease Dominant Intermediate A

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type A	Cmtdia
Charcot-Marie-Tooth Neuropathy Dominant Intermediate A	Di-Cmta
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type A

Charcot-Marie-Tooth Disease Type 1g

Pmp2-Related Charcot-Marie-Tooth Disease Type 1	Pmp2-Related Charcot-Marie-Tooth Neuropathy Type 1
Pmp2-Related Cmt1	Pmp2-Related Hereditary Motor And Sensory Neuropathy Type 1
Cmt1g

Autoimmune Neuropathy

Charcot-Marie-Tooth Disease, Axonal, Type 2l

Charcot-Marie-Tooth Disease Axonal Type 2l	CMT2L
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l	Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l
Charcot-Marie-Tooth Neuropathy Axonal Type 2l	Charcot-Marie-Tooth Disease 2l
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l	Charcot-Marie-Tooth Disease Neuronal Type 2l
Charcot-Marie-Tooth Neuropathy Type 2l	Charcot-Marie-Tooth Disease, Type 2l
Charcot-Marie-Tooth Disease, Type 2i

Charcot-Marie-Tooth Disease, Type 4b2

Charcot-Marie-Tooth Disease Type 4b2	CMT4B2
Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2	Charcot-Marie-Tooth Neuropathy, Type 4b2
Charcot-Marie-Tooth Neuropathy Type 4b2	Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2
Cmt 4b2	Charcot Marie Tooth Disease Type 4b2
Charcot-Marie-Tooth Disease 4b2	Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Neuropathy, Hereditary Sensory And Autonomic, Type Ic

HSAN1C	Hsan Ic
Hsn1c	Hsn Ic
Hereditary Sensory And Autonomic Neuropathy Type 1c	Neuropathy, Hereditary Sensory And Autonomic, Type 1c
Neuropathy, Hereditary Sensory, Type Ic	Hereditary Sensory And Autonomic Neuropathy Type Ic
Neuropathy, Hereditary Sensory And Autonomic, 1c	Hereditary Sensory Neuropathy Type Ic
Neuropathy, Hereditary Sensory/Autonomic, Type Ic	Neuropathy, Sensory And Autonomic, Hereditary, Type Ic

Tarsal Tunnel Syndrome

Neuropathy Of The Posterior Tibial Nerve And Its Branches	Posterior Tibial Nerve Neuralgia
Compression Of Posterior Tibial Nerve In Tarsal Tunnel

Charcot-Marie-Tooth Disease, Type 4d

Charcot-Marie-Tooth Disease Type 4d	CMT4D
Hmsnl	Hmsn4d
Charcot-Marie-Tooth Neuropathy Type 4d	Hereditary Motor And Sensory Neuropathy Lom Type
Hmsn-Lom	Neuropathy, Hereditary Motor And Sensory, Lom Type
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d	Charcot-Marie-Tooth Neuropathy, Type 4d
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d	Hmsn Lom Type
Hmsn, Lom Type	Hereditary Motor And Sensory Neuropathy, Lom Type
Charcot-Marie-Tooth Disease 4d	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d
Hereditary Motor And Sensory Neuropathy Ivd	Hmsn Ivd

Peroneal Neuropathy

Peroneal Neuropathies

Neuronopathy, Distal Hereditary Motor, Type Va

Dsmav	Distal Hereditary Motor Neuropathy Type V
Young Adult-Onset Distal Hereditary Motor Neuropathy	Neuronopathy, Distal Hereditary Motor, Type V
Distal Hereditary Motor Neuronopathy Type 5	Dhmn5
Distal Spinal Muscular Atrophy Type 5	HMN5A
Hmn5	Dhmn5a
Dhmn Va	Dsmava
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance	Distal Hmn V
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5	Dsma5
Young Adult-Onset Dhmn	Dhmn-V
Hmn V	Neuronopathy, Distal Hereditary Motor, Type 5a
Hmn 5a	Neuropathy, Distal Hereditary Motor, Type Va
Spinal Muscular Atrophy, Distal, Type Va	Spinal Muscular Atrophy, Distal, Type V
Distal Spinal Muscular Atrophy Type V	Distal Spinal Muscular Atrophy With Upper Limb Predominance
Distal Hereditary Motor Neuronopathy Type 5a	Distal Hmn Va
Distal Spinal Muscular Atrophy Type Va	Distal Hereditary Motor Neuropathy, Type V
Distal Hereditary Motor Neuronopathy, Type V	Distal Spinal Muscular Atrophy, Type V
Spinal Muscular Atrophy, Distal Type V	Distal Hereditary Motor Neuropathy Type 5
Neuronopathy, Distal Hereditary Motor, 5a	Dhmn V
Distal Hereditary Motor Neuronopathy Type Va	Distal Hereditary Motor Neuropathy Type Va
Dsma-V	Hmn Va
Spinal Muscular Atrophy Distal Type V	Spinal Muscular Atrophy Distal Type Va
Spinal Muscular Atrophy Distal With Upper Limb Predominance	Neuropathy, Distal Hereditary Motor, Type V
Neuropathy, Motor, Distal, Hereditary, Type Va

Charcot-Marie-Tooth Disease, Dominant Intermediate C

CMTDIC	Charcot-Marie-Tooth Disease Dominant Intermediate C
Di-Cmtc	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C	Charcot-Marie-Tooth Neuropathy Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C	Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C

Charcot-Marie-Tooth Disease, Dominant Intermediate F

CMTDIF	Charcot-Marie-Tooth Disease Dominant Intermediate F
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F	Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F

Brachial Plexus Neuropathy

Brachial Plexopathy	Brachial Plexus Neuropathies
Brachial Plexus Disorder	Bpn - [Brachial Plexus Neuropathy]
Brachial Plexus Disease	Neuropathic Plexus Brachialis
Brachial Plexus Syndrome	Brachial Plexus Irritation
Brachial Plexus Lesion	Brachial Plexus Pressure
Compression Of Brachial Plexus

Tibial Neuropathy

Posterior Tibial Neuropathy

Leukodystrophy

Leukodystrophies

Charcot-Marie-Tooth Disease, Type 4j

Charcot-Marie-Tooth Disease Type 4j	CMT4J
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j	Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j
Charcot-Marie-Tooth Disease 4j

Charcot-Marie-Tooth Disease, Type 4h

Charcot-Marie-Tooth Disease Type 4h	CMT4H
Charcot-Marie-Tooth Neuropathy Type 4h	Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h	Charcot-Marie-Tooth Neuropathy, Type 4h
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h	Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h
Charcot-Marie-Tooth Disease 4h	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h

Charcot-Marie-Tooth Disease, Type 4b1

Charcot-Marie-Tooth Disease Type 4b1	CMT4B1
Cmt4b	Charcot-Marie-Tooth Neuropathy Type 4b1
Charcot-Marie-Tooth Disease Type 4b	Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1
Charcot-Marie-Tooth Neuropathy, Type 4b1	Charcot-Marie-Tooth Disease, Type 4b
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1	Charcot-Marie-Tooth Disease 4b1
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

Charcot-Marie-Tooth Disease, Dominant Intermediate E

CMTDIE	Charcot-Marie-Tooth Disease Dominant Intermediate E
Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E
Charcot-Marie-Tooth Disease-Nephropathy Syndrome	Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E

Amyotrophic Neuralgia

Neuralgic Amyotrophy	Brachial Plexus Neuritis
Neuralgic Shoulder Amyotrophy	Acute Brachial Plexus Neuritis
Immune Brachial Plexus Neuropathy	Mononeuritis Multiplex With Brachial Predilection
Parsonage-Turner Syndrome

Charcot-Marie-Tooth Disease X-Linked Recessive 4

Cmt4x	Cmtx4
Cowchock Syndrome	X-Linked Charcot-Marie-Tooth Disease Type 4
Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation	Charcot-Marie-Tooth Disease With Deafness And Mental Retardation
Nadmr	Namsd

Charcot-Marie-Tooth Disease Type 2a2b

Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency	Ar-Cmt2, Ouvrier Type
Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type	Seoan Due To Mfn2 Deficiency
Charcot-Marie-Tooth Disease, Axonal, Type 2a2b	Cmt2a2b
Charcot-Marie-Tooth Disease, Type 2a2b

Mononeuropathy

Mononeuropathies

Plexopathy

Charcot-Marie-Tooth Disease, Axonal, Type 2p

CMT2P	Charcot-Marie-Tooth Disease Axonal Type 2p
Charcot-Marie-Tooth Disease Type 2p	Charcot-Marie-Tooth Neuropathy, Type 2p
Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly	Cmt2g, Formerly
Charcot-Marie-Tooth Neuropathy Type 2p	Charcot-Marie-Toothe Disease, Axonal, Type 2p
Charcot-Marie-Tooth Disease 2p	Charcot-Marie-Tooth Disease, Axonal Type 2g
Charcot-Marie-Tooth Neuropathy Axonal Type 2p	Cmt2g
Charcot-Marie-Tooth Disease, Type 2p	Charcot-Marie-Tooth Disease, Axonal, Type 2g

Charcot-Marie-Tooth Disease, Axonal, Type 2n

Charcot-Marie-Tooth Disease Axonal Type 2n	CMT2N
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n	Charcot-Marie-Tooth Neuropathy Axonal Type 2n
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n	Charcot-Marie-Tooth Disease 2n
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n	Charcot-Marie-Tooth Disease, Type 2n

Waardenburg Syndrome, Type 4a

Waardenburg-Shah Syndrome	Shah-Waardenburg Syndrome
Waardenburg Syndrome Type 4a	WS4A
Ws4	Waardenburg Syndrome Type 4
Waardenburg Syndrome Type Iva	Waardenburg Syndrome With Hirschsprung Disease Type 4a
Hirschsprung Disease With Pigmentary Anomaly	Waardenburg-Hirschsprung Syndrome
Waardenburg Syndrome, Type Iva	Waardenburg Syndrome With Hirschsprung Disease, Type 4a
Waardenburg-Hirschsprung Disease	Waardenburg Syndrome, Type 4
Waardenburg Syndrome 4a

Ulnar Neuropathy

Ulnar Neuropathies

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis	Niemann-Pick Diseases
Lipoid Histiocytosis	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency Disease	Lipid Histiocytosis
Neuronal Cholesterol Lipidosis	Neuronal Lipidosis
Npd	Sphingomyelinase Deficiency
Niemann-Pick Disease, Type A

Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

CMTX2	Charcot-Marie-Tooth Disease X-Linked Recessive 2
X-Linked Charcot-Marie-Tooth Disease Type 2	Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2	Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive

Nerve Compression Syndrome

Entrapment Neuropathies	Compression Neuropathy
Entrapment Neuropathy	Peripheral Nerve Entrapment Syndrome
Nerve Compression Syndromes	Hereditary Liability To Pressure Palsies

Neurilemmoma

Schwannoma	Benign Schwannoma
Neurilemoma	Peripheral Fibroblastoma
Psammomatous Schwannoma	Neurolemmoma
Schwannomas

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy	Hereditary Sensory And Autonomic Neuropathies
Familial Dysautonomia, Type Ii	Hsan
Sensory Neuropathy Hereditary	Neuropathy, Sensory And Autonomic, Hereditary
Neuropathy, Sensory, Hereditary	Sensory Neuropathy, Hereditary
Charcot-Marie-Tooth Disease	Cmt - [Charcot-Marie-Tooth Disease]

Friedreich Ataxia

Friedreich Ataxia 1	FRDA
Friedreich Ataxia With Retained Reflexes	Frda1
Fa	Friedreich'S Ataxia
Hereditary Spinal Ataxia	Fa1
Friedreich'S Tabes	Hereditary Spinal Sclerosis
Spinocerebellar Ataxia, Friedreich	Friedreich Spinocerebellar Ataxia
Friedrich'S Ataxia

Charcot-Marie-Tooth Disease, Type 4b3

Charcot-Marie-Tooth Disease Type 4b3	CMT4B3
Charcot-Marie-Tooth Disease With Focally Folded Myelin	Charcot-Marie-Tooth Disease 4b3
Charcot-Marie-Tooth Neuropathy Type 4b3

Spinal Muscular Atrophy

Sma	5q Sma
Proximal Sma	Sma-Associated Sma
Spinal Amyotrophies	Spinal Amyotrophy
Spinal Muscle Degeneration	Spinal Muscle Wasting
Muscular Atrophy Spinal	Atrophy, Muscular, Spinal
Hereditary Motor Neuronopathy	Progressive Muscular Atrophy
Sma - [Spinal Muscular Atrophy]

Neuropathy, Hereditary Sensory, Type Ie

HSN1E	Hsn Ie
Hereditary Sensory Neuropathy Type 1e	Hereditary Sensory Neuropathy Type Ie
Hsan 1	Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia
Hereditary Sensory Neuropathy Type 1	Hsn1
Hereditary Sensory And Autonomic Neuropathy Type 1	Neuropathy Hereditary Sensory And Autonomic Type 1
Neuropathy Hereditary Sensory Radicular, Autosomal Dominant	Neuropathy, Hereditary Sensory, 1e
Neuropathy Hereditary Sensory With Hearing Loss And Dementia	Neuropathy, Hereditary Sensory, Type I
Neuropathy, Sensory, Hereditary, Type Ie	Hereditary Sensory And Autonomic Neuropathy Type Ie
Hereditary Sensory Autonomic Neuropathy, Type 1

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Waardenburg'S Syndrome

Waardenburg Syndrome	Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Van Der Hoeve Halbertsona Waardenburg Syndrome	Waardenburg Shah Syndrome
Waardenburg, Types I And/Or Ii	Mende Syndrome
Waardenburgs Syndrome	Waardenburg Syndrome, Type 4a

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Hirschsprung'S Disease
Congenital Megacolon	Congenital Intestinal Aganglionosis
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08633	MPZ Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22082	Mpz Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MPZ	RGD	RGD:3109
Mus musculus	MPZ	MGD	MGI:103177
Canis familiaris	MPZ	VGNC	VGNC:43353
Macaca mulatta	MPZ	VGNC	VGNC:74923
Bos taurus	MPZ	VGNC	VGNC:31591
Others	MPZ	NCBI