MCID: PSD083
MIFTS: 11

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 60
Infiltrative Small Vesicular Diffuse Cutaneous Mastocytosis 60
Infiltrative Small Vesicular Dcm 60
Pseudoxanthomatous Dcm 60

Characteristics:

Orphanet epidemiological data:

60
pseudoxanthomatous diffuse cutaneous mastocytosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q82.2
Orphanet 60 ORPHA280794
SNOMED-CT via HPO 70 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). Affiliated tissues include skin, and 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:

60 33
# 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 cutaneous mastocytosis 60 33 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

MalaCards organs/tissues related to Pseudoxanthomatous Diffuse Cutaneous Mastocytosis:

42
Skin

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
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
51 NCIt
52 NDF-RT
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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