Ichthyosis, congenital, autosomal recessive 1

Preferred Label : Ichthyosis, congenital, autosomal recessive 1;

Symbol : ARCI1;

CISMeF acronym : ARCI1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SHCB; Ichthyosis congenita II; Collodion baby, self-healing; Ichthyosis, lamellar, 1; ICR2; LI1; Lamellar exfoliation of newborn; Desquamation of newborn; Ichthyosis congenita; Ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution; Collodion fetus;

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 transglutaminase 1 gene (TGM1, 190195.0001);

Prefixed ID : #242300;

Details

Origin ID

242300;

UMLS CUI

C4551630;

Automatic exact mappings (from CISMeF team)
- Bathing suit ichthyosis [ORDO Disease]
- Ichthyosis congenita [MedDRA LLT]
- LI1 (body structure) [SNOMED CT concept]
- SHC-Transforming Protein 2 [NCIt concept]
- SHC2 wt Allele [NCIt concept]
- Self-Healing collodion baby [MeSH concept]
- Self-healing collodion baby (disorder) [SNOMED CT concept]
- Self-improving collodion baby [ORDO Disease]
- ichthyosis congenita I [MeSH concept]
- ichthyosis congenita II [MeSH concept]
- transglutaminase 1 [ORDO Gene]
Broader ORDO disease(s)
- Lamellar ichthyosis [ORDO Disease]
Currated CISMeF NLP mapping
- Congenital ichthyosis [HPO term]
- Congenital ichthyosis [MedDRA LLT]
- Congenital ichthyosis of skin (disorder) [SNOMED CT concept]
- Congenital ichthyosis, unspecified [ICD-10 Sub-category]
- Ichthyosis congenita [ICD-9 code]
- Ichthyosis congenital [MedDRA LLT]
- Lamellar ichthyosis (disorder) [SNOMED CT concept]
- autosomal recessive congenital ichthyosis 1 [DO Concept]
- congenital ichthyosis [Disease (Nov.)]
- ichthyosis, lamellar [MeSH Descriptor]
DO Cross reference
- autosomal recessive congenital ichthyosis 1 [DO Concept]
Genes related to phenotype
- Transglutaminase 1 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital ichthyosiform erythroderma [HPO term]
- Congenital ichthyosis [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Congenital onset [HPO term]
- Desquamation of skin soon after birth [HPO term]
- Ectropion [HPO term]
- Epidermal acanthosis [HPO term]
- Erythroderma [HPO term]
- Everted lower lip vermilion [HPO term]
- Flexion contracture [HPO term]
- Hypotrichosis [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Parakeratosis [HPO term]
- Sparse hair [HPO term]
ORDO concept(s)
- Bathing suit ichthyosis [ORDO Disease]
- Lamellar ichthyosis [ORDO Disease]
- Self-improving collodion baby [ORDO Disease]
See also inter- (CISMeF)
- Hereditary ichthyosis [Vue CIM-11]
- Self-Healing collodion baby [MeSH Supplementary Concept]
- Self-healing collodion baby [ICD-11 More detail]
- lamellar ichthyosis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital ichthyosis [ICD-10 category]
- Congenital ichthyosis [MedDRA LLT]
- Congenital ichthyosis of skin (disorder) [SNOMED CT concept]
- Congenital ichthyosis, unspecified [ICD-10 Sub-category]
- Ichthyosis congenita [ICD-9 code]
- Ichthyosis congenita [MedDRA LLT]
- Ichthyosis congenital [MedDRA LLT]
- autosomal recessive congenital ichthyosis 1 [DO Concept]
- congenital ichthyosis [Disease (Nov.)]
- congenital ichthyosis of skin, nos [SNOMED Notion]
- ichthyosis congenita I [MeSH concept]
Validated automatic mappings to BTNT
- collodion fetus [MeSH concept]
Validated automatic mappings to NTBT
- Lamellar ichthyosis [ICD-11 More detail]

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