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 60
Bullous Dcm 60

Characteristics:

Orphanet epidemiological data:

60
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:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008066
2 pruritus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000989
3 urticaria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001025
4 erythroderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001019
5 profuse pigmented skin lesions 60 33 hallmark (90%) Very frequent (99-80%) HP:0005587
6 cutaneous mastocytosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0200151
7 cardiorespiratory arrest 60 33 occasional (7.5%) Occasional (29-5%) HP:0006543

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:

42
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

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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