Details of Disease | DrugMAP

General Information of Disease (ID: DISBGIEI)

Disease Name	Capillary malformation-arteriovenous malformation 1
Synonyms	Capillary Malformation-Arteriovenous Malformation; PKWS; CMAVM1; Parkes Weber syndrome; capillary malformation-arteriovenous malformation 1; CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1
Disease Hierarchy	DISMN03Q: Capillary malformation-arteriovenous malformation syndrome DISBGIEI: Capillary malformation-arteriovenous malformation 1
Disease Identifiers	MONDO ID MONDO_0020783 UMLS CUI C4747394 OMIM ID 608354 MedGen ID 1648501 Orphanet ID 90307

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RASA1	TTPNZ1F	Strong	Biomarker	[1]
RASA1	TTPNZ1F	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCM2	OT2I5DOW	Strong	Biomarker	[3]
RASA1	OTZJ3LP4	Definitive	Autosomal dominant	[2]
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References

1	Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia.Hum Genome Var. 2015 Nov 5;2:15040. doi: 10.1038/hgv.2015.40. eCollection 2015.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3	Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet. 2003 Dec;73(6):1459-64. doi: 10.1086/380314. Epub 2003 Nov 17.