Cole disease - CISMeF

Preferred Label : Cole disease;

Symbol : COLED;

CISMeF acronym : COLED;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification;

Description : Cole disease is a rare autosomal dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show nonspecific changes including hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer (summary by Eytan et al., 2013). Some patients also exhibit calcinosis cutis or early-onset calcific tendinopathy (Eytan et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (ENPP1, 173335.0020);

Prefixed ID : #615522;

Details

Origin ID

615522;

UMLS CUI

C3809781;

Automatic exact mappings (from CISMeF team)
- ENPP1 wt Allele [NCIt concept]
CISMeF manual mappings
- Hypopigmentation-punctate palmoplantar keratoderma syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification (disorder) [SNOMED CT concept]
Genes related to phenotype
- Ectonucleotide pyrophosphatase/phosphodiesterase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Epidermal acanthosis [HPO term]
- Hypergranulosis [HPO term]
- Hyperkeratosis [HPO term]
- Palmoplantar keratoderma [HPO term]
Not associated HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of the nail [HPO term]
ORDO concept(s)
- Hypopigmentation-punctate palmoplantar keratoderma syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification (disorder) [SNOMED CT concept]
- Hypopigmentation-punctate palmoplantar keratoderma syndrome [ORDO Disease]

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