Details of Disease | DrugMAP

General Information of Disease (ID: DISCITSF)

Disease Name	Sifrim-Hitz-Weiss syndrome
Synonyms	Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome; Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome; SIHIWES; Sifrim-Hitz-Weiss syndrome; SIHIWES; Sifrim-Hitz-Weiss syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISCITSF: Sifrim-Hitz-Weiss syndrome
Disease Identifiers	MONDO ID MONDO_0014946 UMLS CUI C4310688 OMIM ID 617159 MedGen ID 934655

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
CHD4	OTBDEHDP	Strong	Autosomal dominant	[1]
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References

1	Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification. Development. 2015 Aug 1;142(15):2586-97. doi: 10.1242/dev.125450. Epub 2015 Jun 26.