Details of Disease | DrugMAP

General Information of Disease (ID: DISF38NT)

Disease Name	Intellectual disability, autosomal dominant 48
Synonyms	autosomal dominant intellectual disability 48; MRD48; mental retardation, autosomal dominant 48; microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom; autosomal dominant mental retardation 48; intellectual disability, autosomal dominant 48
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DIS1I87P: Intellectual disability, autosomal dominant DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISF38NT: Intellectual disability, autosomal dominant 48
Disease Identifiers	MONDO ID MONDO_0030913 UMLS CUI C4540321 OMIM ID 617751 MedGen ID 1619532 Orphanet ID 500159

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RAC1	TT2M9CG	Strong	Autosomal dominant	[1]
RAC1	TT2M9CG	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAC1	OTKRO61U	Strong	Autosomal dominant	[1]
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References

1	RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. Am J Hum Genet. 2017 Sep 7;101(3):466-477. doi: 10.1016/j.ajhg.2017.08.007.