MCID: RRC010
MIFTS: 8

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 58

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C0340803
Orphanet 58 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

Articles related to Rare Capillary Malformation:

# Title Authors PMID Year
1
Cutis marmorata telangiectatica congenita: a literature review. 61
31801575 2019

Variations for Rare Capillary Malformation

ClinVar genetic disease variations for Rare Capillary Malformation:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNAQ NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln)SNV Pathogenic 50853 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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