Details of Disease | DrugMAP

General Information of Disease (ID: DISAMT9U)

Disease Name	Intellectual developmental disorder, autosomal recessive 74
Synonyms	Sotos syndrome caused by mutation in APC2; SOTOS3; intellectual developmental disorder, autosomal recessive 74; Sotos syndrome type 3; Sotos syndrome 3; APC2 Sotos syndrome
Definition	Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene.
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISAMT9U: Intellectual developmental disorder, autosomal recessive 74
Disease Identifiers	MONDO ID MONDO_0014951 UMLS CUI C4310684 OMIM ID 617169 MedGen ID 934651

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APC2	TTSMK36	Limited	Unknown	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APC2	OTRH91CX	Limited	Unknown	[1]
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References

1	Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features. Cell Rep. 2015 Mar 10;10(9):1585-1598. doi: 10.1016/j.celrep.2015.02.011. Epub 2015 Mar 5.