Details of Disease | DrugMAP

General Information of Disease (ID: DISPKSPK)

Disease Name	Intellectual disability, X-linked 21
Synonyms	mental retardation, X-linked 34; intellectual disability, X-linked 34; MRX21; mental retardation, X-linked 21; intellectual disability, X-linked type 21; intellectual developmental disorder, X-linked 21, X-linked recessive; mental retardation, X-linked type 21; non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1; IL1RAPL1 non-syndromic X-linked intellectual disability; intellectual disability, X-linked 21
Definition	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.
Disease Hierarchy	DIS71AI3: Non-syndromic X-linked intellectual disability DISPKSPK: Intellectual disability, X-linked 21
Disease Identifiers	MONDO ID MONDO_0010256 MESH ID C538195 UMLS CUI C5551510 OMIM ID 300143 MedGen ID 1790509

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
IL1RAPL1	OTW3T4B2	Definitive	X-linked	[1]
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References

1	A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet. 1999 Sep;23(1):25-31. doi: 10.1038/12623.