Huriez syndrome

Preferred Label : Huriez syndrome;

Symbol : HRZ;

CISMeF acronym : HRZ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SCLEROTYLOSIS; Scleroatrophic and keratotic dermatosis of limbs;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily A, DEAD/H box-containing-1 gene (SMARCAD1, 612761.0003);

Neoplasia : Squamous cell carcinoma (in areas of scleroatrophic skin) G,H;

Prefixed ID : #181600;

Details

Origin ID

181600;

UMLS CUI

C0406767;

Automatic exact mappings (from CISMeF team)
- Huriez syndrome [PASCAL descriptor]
- Palmoplantar keratoderma with scleroatrophy of the extremities [ICD-11 More detail]
- Sclerotylosis [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Huriez syndrome [ORDO Disease]
- Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) [SNOMED CT concept]
- Sclerotylosis [MeSH concept]
- sclerotylosis [MeSH Supplementary Concept]
Genes related to phenotype
- Swi/snf-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, dead/h box-containing, 1 [OMIM gene]
HPO term(s)
- Adermatoglyphia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital palmoplantar hyperkeratosis [HPO term]
- Congenital palmoplantar keratodermia [HPO term]
- Epidermal acanthosis [HPO term]
- Nail dystrophy [HPO term]
- Small nail [HPO term]
- Squamous cell carcinoma of the skin [HPO term]
- Tapered finger [HPO term]
ORDO concept(s)
- Huriez syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Huriez syndrome [ORDO Disease]
- Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) [SNOMED CT concept]
- Sclerotylosis [MeSH concept]
- Sclerotylosis [MedDRA Preferred Term]
- sclerotylosis [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- scleral disorder [Disease (Nov.)]

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