MCID: PSD083
MIFTS: 12

Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

Categories: Skin diseases, Blood diseases, Rare diseases

Aliases & Classifications for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

MalaCards integrated aliases for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis:

Name: Pseudoxanthomatous Diffuse Cutaneous Mastocytosis 59
Infiltrative Small Vesicular Diffuse Cutaneous Mastocytosis 59
Infiltrative Small Vesicular Dcm 59
Pseudoxanthomatous Dcm 59

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet 59 ORPHA280794
ICD10 via Orphanet 34 Q82.2
SNOMED-CT via HPO 69 397012002 703827008

Summaries for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

MalaCards based summary : Pseudoxanthomatous Diffuse Cutaneous Mastocytosis, also known as infiltrative small vesicular diffuse cutaneous mastocytosis, is related to 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

Diseases related to Pseudoxanthomatous Diffuse Cutaneous Mastocytosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 diffuse cutaneous mastocytosis 11.4

Symptoms & Phenotypes for Pseudoxanthomatous Diffuse Cutaneous Mastocytosis

Human phenotypes related to Pseudoxanthomatous Diffuse Cutaneous Mastocytosis:

59 32
# 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 cutaneous mastocytosis 59 32 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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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