Details of Disease

General Information of Disease (ID: DISMN03Q)

Disease Name Capillary malformation-arteriovenous malformation syndrome
Synonyms capillary malformation-arteriovenous malformation; CM-AVM syndrome; capillary malformation without arteriovenous malformation; CMAVM; CM-AVM
Definition This syndrome is characterized by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.
Disease Hierarchy
DISYKSRF: Genetic disease
DISR6ZSG: Capillary malformation
DISMN03Q: Capillary malformation-arteriovenous malformation syndrome
Disease Identifiers
MONDO ID
MONDO_0012016
MESH ID
C564254
UMLS CUI
C1842180
MedGen ID
334007
Orphanet ID
137667
SNOMED CT ID
703533007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACVRL1 TTGYPTC Limited Biomarker [1]
EPHB4 TTI4ZX2 Supportive Autosomal dominant [2]
RASA1 TTPNZ1F Supportive Autosomal dominant [3]
EPHB4 TTI4ZX2 Strong Genetic Variation [4]
NOP2 TTBLG3H Strong Genetic Variation [5]
RASA1 TTPNZ1F Strong Genetic Variation [4]
------------------------------------------------------------------------------------
⏷ Show the Full List of 6 DTT(s)
This Disease Is Related to 17 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CCNH OTKDU3SR Limited CausalMutation [6]
RASA2 OTL06RG2 Limited Genetic Variation [7]
EPHB4 OTKLPVXJ Supportive Autosomal dominant [2]
RASA1 OTZJ3LP4 Supportive Autosomal dominant [3]
ARF3 OTYYQX85 Strong Genetic Variation [5]
BRD8 OTIKS3PC Strong Genetic Variation [5]
HNRNPU OTLQN1E2 Strong Genetic Variation [5]
IGSF1 OT3XD6U2 Strong Genetic Variation [5]
NAA25 OTS3QVF1 Strong Genetic Variation [5]
NSUN5 OTBN7RS8 Strong Genetic Variation [5]
RAB1B OTAFCUAS Strong Genetic Variation [5]
RAB6B OT5N57RK Strong Genetic Variation [5]
RAP1B OTHEIIMM Strong Genetic Variation [5]
RAP2B OTD2NDQP Strong Genetic Variation [5]
SPRED1 OTKX7P8G Strong Biomarker [8]
SYNGAP1 OT41HVYQ Strong Genetic Variation [7]
STAMBP OTOT2OXM Definitive Biomarker [9]
------------------------------------------------------------------------------------
⏷ Show the Full List of 17 DOT(s)

References

1 Human genetics and molecular mechanisms of vein of Galen malformation.J Neurosurg Pediatr. 2018 Apr;21(4):367-374. doi: 10.3171/2017.9.PEDS17365. Epub 2018 Jan 19.
2 Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7.
3 Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet. 2003 Dec;73(6):1240-9. doi: 10.1086/379793. Epub 2003 Nov 24.
4 Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation-arteriovenous malformation syndrome.Pediatr Dermatol. 2020 Jan;37(1):162-164. doi: 10.1111/pde.14029. Epub 2019 Nov 20.
5 RASA1 regulates the function of lymphatic vessel valves in mice.J Clin Invest. 2017 Jun 30;127(7):2569-2585. doi: 10.1172/JCI89607. Epub 2017 May 22.
6 RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.Pediatr Dermatol. 2018 Jan;35(1):e9-e12. doi: 10.1111/pde.13332. Epub 2017 Nov 9.
7 A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia.Hereditas. 2018 Jul 16;155:24. doi: 10.1186/s41065-018-0062-8. eCollection 2018.
8 A review of craniofacial and dental findings of the RASopathies.Orthod Craniofac Res. 2017 Jun;20 Suppl 1(Suppl 1):32-38. doi: 10.1111/ocr.12144.
9 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.