Details of Disease | DrugMAP

General Information of Disease (ID: DISCRS6K)

Disease Name	Ayme-Gripp syndrome
Synonyms	Aym-Gripp syndrome; cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation; cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability; AYGRP; AYME-Gripp syndrome; Ayme-Gripp syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISCRS6K: Ayme-Gripp syndrome
Disease Identifiers	MONDO ID MONDO_0010992 MESH ID C563390 UMLS CUI C1832812 OMIM ID 601088 MedGen ID 371416

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAF	OT1GR3IZ	Definitive	Autosomal dominant	[1]
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References

1	Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies. Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9.