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MSPC
MCID: PLM156
MIFTS: 28
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Palmoplantar Carcinoma, Multiple Self-Healing (MSPC)
Categories:
Cancer diseases, Eye diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Palmoplantar Carcinoma, Multiple Self-Healing:
Characteristics:Orphanet epidemiological data:59
corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset in first to third decade of life skin lesions begin with a progressive appearance of multiple ulcerative-nodular tumors on plantar skin which grow over 3 months keratoacanthomas occur primarily in areas devoid of hair follicles and may spontaneously regress after 6 months some patients may develop malignant tumors homozygous mutation has been reported in two sibs in one family HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Eye diseases Skin diseases
ICD10:
34
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UniProtKB/Swiss-Prot
:
75
Palmoplantar carcinoma, multiple self-healing: An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma.
MalaCards based summary : Palmoplantar Carcinoma, Multiple Self-Healing, also known as corneal intraepithelial dyskeratosis and ectodermal dysplasia, is related to perrault syndrome 1 and renal cell carcinoma, nonpapillary. An important gene associated with Palmoplantar Carcinoma, Multiple Self-Healing is NLRP1 (NLR Family Pyrin Domain Containing 1). Affiliated tissues include skin, lung and bone, and related phenotypes are short neck and long philtrum OMIM : 57 Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by Zhong et al., 2016). (615225) |
Diseases related to Palmoplantar Carcinoma, Multiple Self-Healing via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Palmoplantar Carcinoma, Multiple Self-Healing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615225Human phenotypes related to Palmoplantar Carcinoma, Multiple Self-Healing:32 (show all 14)
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MalaCards organs/tissues related to Palmoplantar Carcinoma, Multiple Self-Healing:41
Skin,
Lung,
Bone,
Eye
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Genes related to Palmoplantar Carcinoma, Multiple Self-Healing (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Carcinoma, Multiple Self-Healing:75
ClinVar genetic disease variations for Palmoplantar Carcinoma, Multiple Self-Healing:6
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Search
GEO
for disease gene expression data for Palmoplantar Carcinoma, Multiple Self-Healing.
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