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 58

Classifications:

Orphanet: 58  
Rare skin diseases
Rare allergic disease


External Ids:

UMLS via Orphanet 72 C0042109
Orphanet 58 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:

40
Skin

Publications for Rare Urticaria

Variations for Rare Urticaria

ClinVar genetic disease variations for Rare Urticaria:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 F12 NM_000505.3(F12):c.983C>G (p.Thr328Arg)SNV Pathogenic 1170 rs118204456 5:176831232-176831232 5:177404231-177404231
2 MEFV NM_000243.2(MEFV):c.2084A>G (p.Lys695Arg)SNV Conflicting interpretations of pathogenicity 2547 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 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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