Details of Disease | DrugMAP

General Information of Disease (ID: DISWBVBT)

Disease Name	Microcephaly-capillary malformation syndrome
Synonyms	MICCAP; MIC-CAP syndrome; microcephaly-capillary malformation syndrome; microcephaly-cutaneous capillary malformation syndrome; MIC-CM syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISWBVBT: Microcephaly-capillary malformation syndrome
Disease Identifiers	MONDO ID MONDO_0013659 UMLS CUI C3280296 OMIM ID 614261 MedGen ID 481926 Orphanet ID 294016 SNOMED CT ID 703369003

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
STAMBP	OTOT2OXM	Definitive	Autosomal recessive	[1]
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References

1	Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31.