MCID: RRR007
MIFTS: 7

Rare Urticaria

Categories: Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Rare Urticaria

MalaCards integrated aliases for Rare Urticaria:

Name: Rare Urticaria 59

Classifications:



External Ids:

UMLS via Orphanet 73 C0042109
Orphanet 59 ORPHA79384

Summaries for Rare Urticaria

MalaCards based summary : Rare Urticaria An important gene associated with Rare Urticaria is F12 (Coagulation Factor XII). Affiliated tissues include skin.

Related Diseases for Rare Urticaria

Diseases in the Urticaria family:

Rare Urticaria

Symptoms & Phenotypes for Rare Urticaria

Drugs & Therapeutics for Rare Urticaria

Search Clinical Trials , NIH Clinical Center for Rare Urticaria

Genetic Tests for Rare Urticaria

Anatomical Context for Rare Urticaria

MalaCards organs/tissues related to Rare Urticaria:

41
Skin

Publications for Rare Urticaria

Variations for Rare Urticaria

ClinVar genetic disease variations for Rare Urticaria:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 F12 NM_000505.3(F12): c.983C> G (p.Thr328Arg) single nucleotide variant Pathogenic rs118204456 5:176831232-176831232 5:177404231-177404231
2 MEFV NM_000243.2(MEFV): c.2084A> G (p.Lys695Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs104895094 16:3293403-3293403 16:3243403-3243403

Expression for Rare Urticaria

Search GEO for disease gene expression data for Rare Urticaria.

Pathways for Rare Urticaria

GO Terms for Rare Urticaria

Sources for Rare Urticaria

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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