Palmoplantar carcinoma, multiple self-healing

Preferred Label : Palmoplantar carcinoma, multiple self-healing;

Symbol : MSPC;

CISMeF acronym : CIDED; MSPC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CIDED; Corneal intraepithelial dyskeratosis and ectodermal dysplasia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the pyrin domain-containing-1 of the NLR family gene (NLRP1, 606626.0002);

Neoplasia : Bone metastases from squamous cell carcinoma; Malignant head and neck tumors; Increased risk for malignant tumors; Malignant lung tumors; Squamous cell carcinoma;

Prefixed ID : #615225;

Details

Origin ID

615225;

UMLS CUI

C3808876;

Automatic exact mappings (from CISMeF team)
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [ORDO Disease]
- NLRP1 wt Allele [NCIt concept]
Genes related to phenotype
- Nlr family, pyrin domain-containing 1 [OMIM gene]
HPO term(s)
- Amyloidosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Carcinoma [HPO term]
- Corneal neovascularization [HPO term]
- Cutaneous macular amyloidosis [HPO term]
- Ectodermal dysplasia [HPO term]
- Epidermal acanthosis [HPO term]
- Finger joint hypermobility [HPO term]
- Follicular hyperkeratosis [HPO term]
- Hyperkeratosis pilaris [HPO term]
- Keratosis pilaris [HPO term]
- Limbal stem cell deficiency [HPO term]
- Long philtrum [HPO term]
- Nail dystrophy [HPO term]
- Palmoplantar keratoderma [HPO term]
- Parakeratosis [HPO term]
- Short neck [HPO term]
- Squamous cell carcinoma [HPO term]
ORDO concept(s)
- Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]

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