MCID: RRC010
MIFTS: 7

Rare Capillary Malformation

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Rare Capillary Malformation

MalaCards integrated aliases for Rare Capillary Malformation:

Name: Rare Capillary Malformation 59

Classifications:



External Ids:

UMLS via Orphanet 73 C0340803
Orphanet 59 ORPHA211247

Summaries for Rare Capillary Malformation

MalaCards based summary : Rare Capillary Malformation is related to rare capillary malformation with associated anomalies. An important gene associated with Rare Capillary Malformation is GNAQ (G Protein Subunit Alpha Q).

Related Diseases for Rare Capillary Malformation

Diseases in the Rare Capillary Malformation family:

Capillary Malformations, Congenital

Diseases related to Rare Capillary Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rare capillary malformation with associated anomalies 12.4

Symptoms & Phenotypes for Rare Capillary Malformation

Drugs & Therapeutics for Rare Capillary Malformation

Search Clinical Trials , NIH Clinical Center for Rare Capillary Malformation

Genetic Tests for Rare Capillary Malformation

Anatomical Context for Rare Capillary Malformation

Publications for Rare Capillary Malformation

Variations for Rare Capillary Malformation

ClinVar genetic disease variations for Rare Capillary Malformation:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNAQ NM_002072.5(GNAQ): c.548G> A (p.Arg183Gln) single nucleotide variant Pathogenic rs397514698 9:80412493-80412493 9:77797577-77797577

Expression for Rare Capillary Malformation

Search GEO for disease gene expression data for Rare Capillary Malformation.

Pathways for Rare Capillary Malformation

GO Terms for Rare Capillary Malformation

Sources for Rare Capillary Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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