Details of Disease | DrugMAP

General Information of Disease (ID: DISPRXPD)

Disease Name	KINSSHIP syndrome
Definition	A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS3HIWD: Autosomal dominant disease DISPRXPD: KINSSHIP syndrome
Disease Identifiers	MONDO ID MONDO_0851095 UMLS CUI C5543317 OMIM ID 619297 MedGen ID 1779339

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
AFF3	OTR0705Z	Strong	Autosomal dominant	[1]
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References

1	Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clin Genet. 2008 Dec;74(6):560-5. doi: 10.1111/j.1399-0004.2008.01050.x. Epub 2008 Jun 23.