Ichthyosis, congenital, autosomal recessive 5

Preferred Label : Ichthyosis, congenital, autosomal recessive 5;

Symbol : ARCI5;

CISMeF acronym : ARCI5; LI3; NNCI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyosis, lamellar, 3; Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive; Ichthyosis congenita III; NNCI; LI3;

Description : Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome P450, family 4, subfamily F, polypeptide 22 gene (CYP4F22, 611495.0001);

Prefixed ID : #604777;

Details

Origin ID

604777;

UMLS CUI

C1858133;

Automatic exact mappings (from CISMeF team)
- LI3 (body structure) [SNOMED CT concept]
- ichthyosis, lamellar [MeSH Descriptor]
- ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive [MeSH concept]
- ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive [MeSH Supplementary Concept]
- lamellar ichthyosis, type 3 [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Lamellar ichthyosis [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive congenital ichthyosis 5 [DO Concept]
DO Cross reference
- autosomal recessive congenital ichthyosis 5 [DO Concept]
Genes related to phenotype
- Cytochrome p450, family 4, subfamily f, polypeptide 22 [OMIM gene]
HPO term(s)
- Acanthocytosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Congenital onset [HPO term]
- Epidermal acanthosis [HPO term]
- Erythroderma [HPO term]
- Orthokeratosis [HPO term]
- Palmar hyperlinearity [HPO term]
- Palmoplantar keratoderma [HPO term]
- Parakeratosis [HPO term]
ORDO concept(s)
- Lamellar ichthyosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive congenital ichthyosis 5 [DO Concept]
- ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive [MeSH Supplementary Concept]
- ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive [MeSH concept]

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