Details of Disease | DrugMAP

General Information of Disease (ID: DIS9RWMB)

Disease Name	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Synonyms	mental retardation, X-linked, syndromic 32; intellectual developmental disorder, X-linked syndromic 32, X-linked recessive; intellectual disability, X-linked, syndromic type 32; intellectual disability, X-linked, syndromic 32; MRXS32; mental retardation, X-linked, syndromic type 32
Definition	A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DIS9RWMB: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Disease Identifiers	MONDO ID MONDO_0010473 UMLS CUI C3550913 OMIM ID 300886 MedGen ID 763827 Orphanet ID 324410

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
CLIC2	OTDBURM4	Moderate	X-linked	[1]
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References

1	An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. Hum Mol Genet. 2012 Oct 15;21(20):4497-507. doi: 10.1093/hmg/dds292. Epub 2012 Jul 19.