Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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

Disease Browser
Parent Node: Vascular Malformations (D054079)
..Starting node ..Capillary Malformations, Congenital, 1 (C562760)
Child Nodes:
........CAPILLARY MALFORMATIONS, CONGENITAL (OMIM:163000)
Sister Nodes:
..Arterial Tortuosity Syndrome (C565942)
..Arterio-Arterial Fistula (D001159) 2
..Arteriovenous Malformations (D001165) 12
..Capillary Malformations, Congenital, 1 (C562760) 1
..Central Nervous System Vascular Malformations (D020785) 10
..Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
..Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature (C565092)
..Hemophilia A with Vascular Abnormality (C564415)
..May-Thurner Syndrome (D062108)
..Patent Ductus Venosus (C562830)
..Prepapillary Vascular Loops (C563287)
..Pulmonary Atresia (D018633) 2
..Scimitar Syndrome (D012587) 1
..Single Umbilical Artery (D058529)
..Splenoportal Vascular Anomalies (C562761)
..Telangiectasia, Hereditary Hemorrhagic (D013683) 4
..Vascular Fistula (D016157) 7
..Vascular Malformation, Primary Intraosseous (C564648)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1628

Name:

Capillary Malformations, Congenital, 1

Definition:

Alternative IDs:

ParentIDs:

MESH:D054079

TreeNumbers:

C14.240.850/C562760 |C16.131.240.850/C562760

Synonyms:

Capillary Malformations

Slim Mappings:

Cardiovascular disease|Congenital abnormality

Reference:

MedGen: C562760
MeSH: C562760
OMIM: 163000;

Genes: GNAQ;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001052	Nevus flammeus

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_002072.4(GNAQ):c.548G>A (p.Arg183Gln)	2776	GNAQ	Pathogenic	397514698	RCV000043593; RCV000043592;	N	Gene:246230,MedGen:C0340803,OMIM:163000,ORPHA:211247; MedGen:C0038505,OMIM:185300,ORPHA:3205	9	80412493	80412493	NM_002072.4:c.548G>A	NP_002063.2:p.Arg183Gln	NC_000009.11:g.80412493C>T	OMIM Allelic Variant:600998.0001	C0340803 163000 Capillary malformations, congenital, 1; C0038505 185300 Sturge-Weber syndrome