Keratitis-ichthyosis-deafness syndrome, autosomal recessive

Preferred Label : Keratitis-ichthyosis-deafness syndrome, autosomal recessive;

Symbol : KIDAR;

CISMeF acronym : KIDAR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kid syndrome, autosomal recessive; Desmons syndrome; Ichthyosiform erythroderma, corneal involvement, and deafness;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adaptor-related protein complex-1, beta-1 subunit gene (AP1B1, 600157.0001);

Laboratory abnormalities : Elevated bile acids (in some patients); Elevated alanine aminotransferase (in some patients); Low serum albumin (in some patients); Elevated alkaline phosphatase (in some patients); Low ceruloplasmin levels; Elevated gamma-glutamyl transferase (in some patients); Low serum copper; Low plasma zinc; Elevated very-long-chain fatty acids (in some patients);

Prefixed ID : #242150;

Details

Origin ID

242150;

UMLS CUI

C1275089;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Ichthyosiform erythroderma, corneal involvement, deafness [MeSH concept]
- ichthyosiform erythroderma, corneal involvement, deafness [MeSH Supplementary Concept]
Genes related to phenotype
- Adaptor-related protein complex 1, beta-1 subunit [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Conjunctivitis [HPO term]
- Decreased lacrimation [HPO term]
- Erythroderma [HPO term]
- Failure to thrive [HPO term]
- Fragile nails [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
- Keratoconus [HPO term]
- Myopia [HPO term]
- Photophobia [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- KID syndrome [ORDO Disease]
See also inter- (CISMeF)
- KID syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive keratitis-ichthyosis-deafness syndrome (disorder) [SNOMED CT concept]
- Ichthyosiform erythroderma, corneal involvement, deafness [MeSH concept]
- ichthyosiform erythroderma, corneal involvement, deafness [MeSH Supplementary Concept]

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