MCID: BLL014
MIFTS: 13

Bullous Diffuse Cutaneous Mastocytosis

Categories: Blood diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bullous Diffuse Cutaneous Mastocytosis

MalaCards integrated aliases for Bullous Diffuse Cutaneous Mastocytosis:

Name: Bullous Diffuse Cutaneous Mastocytosis 59
Bullous Dcm 59

Characteristics:

Orphanet epidemiological data:

59
bullous diffuse cutaneous mastocytosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Bullous Diffuse Cutaneous Mastocytosis

MalaCards based summary : Bullous Diffuse Cutaneous Mastocytosis, is also known as bullous dcm. An important gene associated with Bullous Diffuse Cutaneous Mastocytosis is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase). Affiliated tissues include skin, and related phenotypes are abnormal blistering of the skin and pruritus

Related Diseases for Bullous Diffuse Cutaneous Mastocytosis

Symptoms & Phenotypes for Bullous Diffuse Cutaneous Mastocytosis

Human phenotypes related to Bullous Diffuse Cutaneous Mastocytosis:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
2 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
3 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
4 erythroderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001019
5 cardiorespiratory arrest 59 32 occasional (7.5%) Occasional (29-5%) HP:0006543
6 profuse pigmented skin lesions 59 32 hallmark (90%) Very frequent (99-80%) HP:0005587
7 cutaneous mastocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200151

Drugs & Therapeutics for Bullous Diffuse Cutaneous Mastocytosis

Search Clinical Trials , NIH Clinical Center for Bullous Diffuse Cutaneous Mastocytosis

Genetic Tests for Bullous Diffuse Cutaneous Mastocytosis

Anatomical Context for Bullous Diffuse Cutaneous Mastocytosis

MalaCards organs/tissues related to Bullous Diffuse Cutaneous Mastocytosis:

41
Skin

Publications for Bullous Diffuse Cutaneous Mastocytosis

Variations for Bullous Diffuse Cutaneous Mastocytosis

Expression for Bullous Diffuse Cutaneous Mastocytosis

Search GEO for disease gene expression data for Bullous Diffuse Cutaneous Mastocytosis.

Pathways for Bullous Diffuse Cutaneous Mastocytosis

GO Terms for Bullous Diffuse Cutaneous Mastocytosis

Sources for Bullous Diffuse Cutaneous Mastocytosis

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11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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