Ichthyosis, annular epidermolytic, 1

Preferred Label : Ichthyosis, annular epidermolytic, 1;

Symbol : AEI1;

CISMeF acronym : AEI; CIEHK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CIEHK1; AEI; Ichthyosis, cyclic, with epidermolytic hyperkeratosis;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the keratin 1 gene (KRT1, 139350.0005); Caused by mutation in the keratin 10 gene (KRT10, 148080.0014);

Prefixed ID : #607602;

Details

Origin ID

607602;

UMLS CUI

C1843463;

CISMeF manual mappings
- Annular epidermolytic ichthyosis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Annular epidermolytic ichthyosis [ICD-11 More detail]
- Annular epidermolytic ichthyosis [ORDO Disease]
- ichthyosis, cyclic, with epidermolytic hyperkeratosis [MeSH concept]
- ichthyosis, cyclic, with epidermolytic hyperkeratosis [MeSH Supplementary Concept]
Genes related to phenotype
- Keratin 10, type I [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital bullous ichthyosiform erythroderma [HPO term]
- Congenital ichthyosis [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Erythema [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
Not associated HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormality of the nail [HPO term]
ORDO concept(s)
- Annular epidermolytic ichthyosis [ORDO Disease]
- Autosomal dominant epidermolytic ichthyosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Annular epidermolytic ichthyosis [ORDO Disease]
- Annular epidermolytic ichthyosis (disorder) [SNOMED CT concept]
- ichthyosis, cyclic, with epidermolytic hyperkeratosis [MeSH Supplementary Concept]
- ichthyosis, cyclic, with epidermolytic hyperkeratosis [MeSH concept]

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