Ichthyosis, congenital, autosomal recessive 4b

Preferred Label : Ichthyosis, congenital, autosomal recessive 4b;

Symbol : ARCI4B;

CISMeF acronym : ARCI4B; HI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Harlequin ichthyosis; HI; Ichthyosis congenita, harlequin fetus type; 'harlequin fetus';

Description : Harlequin ichthyosis is a rare severe form of congenital ichthyosis, which may be fatal. The neonate is encased in an 'armor' of thick scale plates separated by deep fissures. There is bilateral ectropion and eclabium, and the nose and ears are flattened and appear rudimentary. Constricting bands around the extremities can restrict movement and cause digital necrosis. As the skin barrier is severely compromised, neonates are more prone to sepsis, dehydration, and impaired thermoregulation. Treatment with oral retinoids encourages shedding of the grossly thickened skin. Babies who survive into infancy and beyond develop skin changes resembling severe nonbullous congenital ichthyosiform erythroderma (see 242300) (summary by Rajpopat et al., 2011). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass lamellar ichthyosis (LI), nonbullous congenital ichthyosis erythroderma (NCIE), and harlequin ichthyosis (Oji et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily A, member 12 gene (ABCA12, 607800.0006);

Laboratory abnormalities : Tonofibril defect (cross-beta-protein structure);

Prefixed ID : #242500;

Details

Origin ID

242500;

UMLS CUI

C0598226;

Automatic exact mappings (from CISMeF team)
- A-Kinase Anchor Protein 4 [NCIt concept]
- AKAP4 wt Allele [NCIt concept]
- ATP binding cassette subfamily C member 8 [ORDO Gene]
- Deafness not otherwise specified [ICD-11 Category]
- Hawaii [NCIt concept]
- Immediate hypersensitivity [MedDRA LLT]
- Injuries to the head [Bloc CIM-11]
- Wig, device (physical object) [SNOMED CT concept]
- history [MeSH Qualifier]
- history [MeSH Descriptor]
- ichthyosis, lamellar [MeSH Descriptor]
Currated CISMeF NLP mapping
- Harlequin Ichthyosis [NCIt concept]
- Harlequin fetus [MedDRA LLT]
- Harlequin fetus [PASCAL descriptor]
- Harlequin fetus [ICD-10 Sub-category]
- Harlequin fetus (disorder) [SNOMED CT concept]
- Harlequin foetus [MedDRA Preferred Term]
- Harlequin ichthyosis [Disease (Nov.)]
- Harlequin ichthyosis [ORDO Disease]
- Harlequin ichthyosis [ICD-11 More detail]
- Harlequin type ichthyosis [MeSH concept]
- autosomal recessive congenital ichthyosis 4B [DO Concept]
- harlequin fetus [SNOMED Notion]
- harlequin fetus [MeSH concept]
- harlequin type ichthyosis [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive congenital ichthyosis 4B [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily a, member 12 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital ichthyosiform erythroderma [HPO term]
- Congenital ichthyosis [HPO term]
- Eclabion [HPO term]
- Ectropion [HPO term]
- Everted lower lip vermilion [HPO term]
- Ichthyosis [HPO term]
- Premature birth [HPO term]
- Proptosis [HPO term]
- Rigidity [HPO term]
- Short finger [HPO term]
ORDO concept(s)
- Harlequin ichthyosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Harlequin ichthyosis [ORDO Disease]
- Harlequin type ichthyosis [MeSH concept]
- Harlequin-type ichthyosis [MedDRA LLT]
- harlequin type ichthyosis [MeSH Supplementary Concept]

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