MCID: BLL014
MIFTS: 12

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 58
Bullous Dcm 58

Characteristics:

Orphanet epidemiological data:

58
bullous diffuse cutaneous mastocytosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases
Rare haematological diseases


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). Related phenotypes are urticaria and pruritus

Related Diseases for Bullous Diffuse Cutaneous Mastocytosis

Symptoms & Phenotypes for Bullous Diffuse Cutaneous Mastocytosis

Human phenotypes related to Bullous Diffuse Cutaneous Mastocytosis:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001025
2 pruritus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000989
3 erythroderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001019
4 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
5 cutaneous mastocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200151
6 profuse pigmented skin lesions 58 31 hallmark (90%) Very frequent (99-80%) HP:0005587
7 cardiorespiratory arrest 58 31 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

Publications for Bullous Diffuse Cutaneous Mastocytosis

Articles related to Bullous Diffuse Cutaneous Mastocytosis:

# Title Authors PMID Year
1
[Bullous mastocytosis in infancy: a rare presentation]. 61
22664234 2012

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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