MCID: PSD083
MIFTS: 9

Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

Categories: Blood diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

MalaCards integrated aliases for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis:

Name: Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 58
Infiltrative Small Vesicular Diffuse Cutaneous Mastocytosis 58
Infiltrative Small Vesicular Dcm 58
Pseudoxanthomatous Dcm 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare skin diseases
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 Q82.2
Orphanet 58 ORPHA280794
SNOMED-CT via HPO 68 397012002 703827008

Summaries for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

MalaCards based summary : Pseudoxanthomatous Diffuse Cutaneous Mastocytosis, is also known as infiltrative small vesicular diffuse cutaneous mastocytosis. An important gene associated with Pseudoxanthomatous Diffuse Cutaneous Mastocytosis is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase). Related phenotypes are abnormal blistering of the skin and cutaneous mastocytosis

Related Diseases for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

Symptoms & Phenotypes for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

Human phenotypes related to Pseudoxanthomatous Diffuse Cutaneous Mastocytosis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
2 cutaneous mastocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200151

Drugs & Therapeutics for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

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

Genetic Tests for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

Anatomical Context for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

Publications for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

Variations for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

Expression for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

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

Pathways for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

GO Terms for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

Sources for Pseudoxanthomatous 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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