MSPC
MCID: PLM156
MIFTS: 37
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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:58
corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; OMIM:56
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:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Eye diseases Skin diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
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 fatty liver disease, nonalcoholic 1 and lipid metabolism disorder. An important gene associated with Palmoplantar Carcinoma, Multiple Self-Healing is NLRP1 (NLR Family Pyrin Domain Containing 1). The drugs Doxorubicin and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related phenotypes are short neck and long philtrum OMIM : 56 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) |
Human phenotypes related to Palmoplantar Carcinoma, Multiple Self-Healing:31 (show all 15)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615225 |
Drugs for Palmoplantar Carcinoma, Multiple Self-Healing (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Palmoplantar Carcinoma, Multiple Self-Healing:40
Skin,
Bone,
Liver,
Eye,
Lung,
Bone Marrow,
Heart
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Articles related to Palmoplantar Carcinoma, Multiple Self-Healing:(show top 50) (show all 121)
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ClinVar genetic disease variations for Palmoplantar Carcinoma, Multiple Self-Healing:6
UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Carcinoma, Multiple Self-Healing:73
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Search
GEO
for disease gene expression data for Palmoplantar Carcinoma, Multiple Self-Healing.
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