Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal

Preferred Label : Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal;

Type : Phenotype, molecular basis known;

Included titles and symbols : Palmoplantar hyperkeratosis and true hermaphroditism;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the R-spondin 1 gene (RSPO1, 609595.0001);

Neoplasia : Pulmonary metastases of squamous cell carcinoma; Laryngeal carcinoma; Multiple squamous cell carcinomas in areas of hyperkeratotic skin;

Laboratory abnormalities : Hypercholesterolemia; Hypertriglyceridemia;

Prefixed ID : #610644;

Details

Origin ID

610644;

UMLS CUI

C3149931;

Automatic exact mappings (from CISMeF team)
- palmoplantar hyperkeratosis and true hermaphroditism [MeSH concept]
- palmoplantar hyperkeratosis and true hermaphroditism [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) [SNOMED CT concept]
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome [ORDO Disease]
Genes related to phenotype
- R-spondin 1 [OMIM gene]
HPO term(s)
- Ambiguous genitalia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carcinoma [HPO term]
- Clitoral hypertrophy [HPO term]
- Decreased testicular size [HPO term]
- External genital hypoplasia [HPO term]
- Gynecomastia [HPO term]
- Hypercholesterolemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypospadias [HPO term]
- Laryngeal carcinoma [HPO term]
- Nail dystrophy [HPO term]
- Orthokeratotic hyperkeratosis [HPO term]
- Ovotestis [HPO term]
- Palmoplantar hyperhidrosis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Premature loss of permanent teeth [HPO term]
- Sclerodactyly [HPO term]
- Small nail [HPO term]
ORDO concept(s)
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome [ORDO Disease]

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