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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Arteriovenous Malformations (D001165)
Parent Node: Port-Wine Stain (D019339)
..Starting node ..Capillary Malformation-Arteriovenous Malformation (C564254)
Child Nodes:
Sister Nodes:
..Capillary Malformation-Arteriovenous Malformation (C564254)
..CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
..Nevi flammei, familial multiple (C535816)
..Nevus Flammeus of Nape of Neck (C567524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1625

Name:

Capillary Malformation-Arteriovenous Malformation

Definition:

Alternative IDs:

OMIM:608354

ParentIDs:

MESH:D001165|MESH:D019339

TreeNumbers:

C14.240.850.750/C564254 |C14.907.150/C564254 |C16.131.240.850.750/C564254 |C16.131.831.675/C564254 |C17.800.804.675/C564254

Synonyms:

Capillary Malformation-Arteriovenous Malformation Syndrome |Capillary Malformation Without Arteriovenous Malformation |CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION, INCLUDED |Cm-Avm |CMAVM

Slim Mappings:

Cardiovascular disease|Congenital abnormality|Skin disease

Reference:

MedGen: C564254
MeSH: C564254
OMIM: 608354;

Genes: RASA1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004947	Arteriovenous fistula
3	HP:0100026	Arteriovenous malformation
4	HP:0005306	Capillary hemangioma

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_002890.2(RASA1):c.475_476delCT (p.Leu159Glyfs)	5921	RASA1	Pathogenic	797044451	RCV000017370; RCV000017371; RCV000200157;	N	MedGen:C1842180,OMIM:608354,ORPHA:137667; MedGen:CN074207,OMIM:608355; MedGen:CN221809	5	86564743	86564744	NM_002890.2:c.475_476delCT	NP_002881.1:p.Leu159Glyfs	NC_000005.9:g.86564743_86564744delCT	OMIM Allelic Variant:139150.0004	C1842180 608354 Capillary malformation-arteriovenous malformation; CN221809 not provided; CN074207 608355 Parkes Weber syndrome
NM_002890.2(RASA1):c.1619G>A (p.Cys540Tyr)	5921	RASA1	Pathogenic	137853217	RCV000017372;	N	MedGen:C1842180,OMIM:608354,ORPHA:137667	5	86665638	86665638	NM_002890.2:c.1619G>A	NP_002881.1:p.Cys540Tyr	NC_000005.9:g.86665638G>A	OMIM Allelic Variant:139150.0005	C1842180 608354 Capillary malformation-arteriovenous malformation