MCID: PGM025
MIFTS: 6

Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome

Categories: Skin diseases, Fetal diseases, Oral diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

MalaCards integrated aliases for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome:

Name: Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome 59

Characteristics:

Orphanet epidemiological data:

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pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

Classifications:



External Ids:

Orphanet 59 ORPHA447961

Summaries for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

MalaCards based summary : Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome An important gene associated with Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome is SASH1 (SAM And SH3 Domain Containing 1). Affiliated tissues include skin.

Related Diseases for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

Symptoms & Phenotypes for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

Drugs & Therapeutics for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

Search Clinical Trials , NIH Clinical Center for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome

Genetic Tests for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

Anatomical Context for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

MalaCards organs/tissues related to Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome:

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Skin

Publications for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

Variations for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

Expression for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

Search GEO for disease gene expression data for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome.

Pathways for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

GO Terms for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

Sources for Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma...

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
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44 MeSH
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46 MGI
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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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