Ichthyosis hystrix, curth-macklin type

Preferred Label : Ichthyosis hystrix, curth-macklin type;

Symbol : IHCM;

CISMeF acronym : IHCM;

Type : Phenotype, molecular basis known;

Description : Anton-Lamprecht (1978) stated that 4 genetic disorders of keratinization were known to have a structural defect of tonofibrils. (1) In the harlequin fetus (242500), an abnormal x-ray diffraction pattern of the horn material points to a cross-beta-protein structure instead of the normal alpha-protein structure of keratin. (2) Bullous ichthyosiform erythroderma (EHK; 113800) is characterized by an early formation of clumps and perinuclear shells due to an abnormal arrangement of tonofibrils. (3) In the Curth-Macklin form of ichthyosis hystrix, concentric unbroken shells of abnormal tonofilaments form around the nucleus. (4) In ichthyosis hystrix gravior (146600), only rudimentary tonofilaments are found with compensatory production of mucous granules.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the KRT1 gene (KRT1, 139350.0013);

Prefixed ID : #146590;

Details

Origin ID

146590;

UMLS CUI

C1840296;

Automatic exact mappings (from CISMeF team)
- Ichthyosis Curth-Macklin [ICD-11 More detail]
- Ichthyosis hystrix of Curth-Macklin (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Ichthyosis hystrix of Curth-Macklin [ORDO Disease]
- Ichthyosis hystrix, Curth Macklin type [MeSH concept]
- ichthyosis hystrix, curth macklin type [MeSH Supplementary Concept]
Genes related to phenotype
- Keratin 1, type II [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
ORDO concept(s)
- Ichthyosis hystrix of Curth-Macklin [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis hystrix of Curth-Macklin [ORDO Disease]
- Ichthyosis hystrix of Curth-Macklin (disorder) [SNOMED CT concept]
- Ichthyosis hystrix, Curth Macklin type [MeSH concept]
- ichthyosis hystrix, curth macklin type [MeSH Supplementary Concept]

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