MCID: ICH071
MIFTS: 16

Ichthyosis, Congenital, Autosomal Recessive 12

Categories: Genetic diseases, Skin diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Ichthyosis, Congenital, Autosomal Recessive 12

MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 12:

Name: Ichthyosis, Congenital, Autosomal Recessive 12 57 75 29 6
Arci12 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ichthyosis, congenital, autosomal recessive 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617320
MeSH 44 D017490
SNOMED-CT via HPO 69 258211005

Summaries for Ichthyosis, Congenital, Autosomal Recessive 12

OMIM : 57 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). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (617320)

MalaCards based summary : Ichthyosis, Congenital, Autosomal Recessive 12, is also known as arci12. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 12 is CASP14 (Caspase 14). Affiliated tissues include skin, and related phenotype is white scaling skin.

UniProtKB/Swiss-Prot : 75 Ichthyosis, congenital, autosomal recessive 12: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.

Symptoms & Phenotypes for Ichthyosis, Congenital, Autosomal Recessive 12

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
nonerythematous fine whitish scales over entire body


Clinical features from OMIM:

617320

Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 12:

32
# Description HPO Frequency HPO Source Accession
1 white scaling skin 32 HP:0040190

Drugs & Therapeutics for Ichthyosis, Congenital, Autosomal Recessive 12

Search Clinical Trials , NIH Clinical Center for Ichthyosis, Congenital, Autosomal Recessive 12

Genetic Tests for Ichthyosis, Congenital, Autosomal Recessive 12

Genetic tests related to Ichthyosis, Congenital, Autosomal Recessive 12:

# Genetic test Affiliating Genes
1 Ichthyosis, Congenital, Autosomal Recessive 12 29 CASP14

Anatomical Context for Ichthyosis, Congenital, Autosomal Recessive 12

MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 12:

41
Skin

Publications for Ichthyosis, Congenital, Autosomal Recessive 12

Variations for Ichthyosis, Congenital, Autosomal Recessive 12

ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CASP14 NM_012114.2(CASP14): c.462_463delCA (p.Asp154Glufs) deletion Pathogenic rs1057519339 GRCh38 Chromosome 19, 15055216: 15055217
2 CASP14 NM_012114.2(CASP14): c.462_463delCA (p.Asp154Glufs) deletion Pathogenic rs1057519339 GRCh37 Chromosome 19, 15166027: 15166028

Expression for Ichthyosis, Congenital, Autosomal Recessive 12

Search GEO for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 12.

Pathways for Ichthyosis, Congenital, Autosomal Recessive 12

GO Terms for Ichthyosis, Congenital, Autosomal Recessive 12

Sources for Ichthyosis, Congenital, Autosomal Recessive 12

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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