CECR - cat eye syndrome chromosome region Gene

Homo sapiens

Also known as CES

Gene ID: 1055 | Gene type: other

About CECR

Cytogenetic location: 22q11 Genomic coordinates (GRCh38): 22:15,000,001-25,500,000

Summary

Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]

Related Diseases

Diseases

Alias

Cat Eye Syndrome

CES	Schmid-Fraccaro Syndrome
Chromosome 22 Partial Tetrasomy	Inv Dup(22)(Q11)
Cat-Eye Syndrome	Cess
Opitz Trigonocephaly Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-110374	NVS-CECR2-1		99.40%	Unkown
HY-19336	BAZ2-ICR	Inhibitor	99.95%	Unkown
HY-123621	GNE-375	Inhibitor	99.93%	Unkown
HY-114205A	TP-238 hydrochloride	Inhibitor	≥99.0%	Unkown
HY-117865	GNE-886	Inhibitor	99.81%	Unkown
HY-114205	TP-238	Inhibitor	/	Unkown
HY-145347	GSK232	Inhibitor	/	Unkown
HY-149806	Bromodomain IN-2	Inhibitor	/	Unkown
HY-RS02451	CECR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02452	Cecr2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02453	Cecr2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16412	CECR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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