ARCI12
MCID: ICH071
MIFTS: 18

Ichthyosis, Congenital, Autosomal Recessive 12 (ARCI12)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin 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 72 29 6
Arci12 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
ichthyosis, congenital, autosomal recessive 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617320
OMIM Phenotypic Series 57 PS242300
MeSH 44 D017490
SNOMED-CT via HPO 68 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) (Updated 05-Apr-2021)

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). Related phenotype is white scaling skin.

UniProtKB/Swiss-Prot : 72 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

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

31
# Description HPO Frequency HPO Source Accession
1 white scaling skin 31 HP:0040190

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
nonerythematous fine whitish scales over entire body

Clinical features from OMIM®:

617320 (Updated 05-Apr-2021)

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

Publications for Ichthyosis, Congenital, Autosomal Recessive 12

Articles related to Ichthyosis, Congenital, Autosomal Recessive 12:

# Title Authors PMID Year
1
Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis. 6 57
27494380 2017
2
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. 57
20643494 2010
3
Autosomal recessive congenital ichthyosis. 57
19434086 2009
4
The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. 57
12780701 2003

Variations for Ichthyosis, Congenital, Autosomal Recessive 12

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASP14 NM_012114.3(CASP14):c.462_463del (p.Asp154fs) Deletion Pathogenic 375306 rs769277893 GRCh37: 19:15166026-15166027
GRCh38: 19:15055215-15055216
2 CASP14 NM_012114.3(CASP14):c.334del (p.Ala111_Leu112insTer) Deletion Pathogenic 1027763 GRCh37: 19:15164698-15164698
GRCh38: 19:15053887-15053887
3 CASP14 NM_012114.3(CASP14):c.328G>A (p.Glu110Lys) SNV Uncertain significance 1027761 GRCh37: 19:15164694-15164694
GRCh38: 19:15053883-15053883
4 CASP14 NM_012114.3(CASP14):c.332C>T (p.Ala111Val) SNV Uncertain significance 1027762 GRCh37: 19:15164698-15164698
GRCh38: 19:15053887-15053887

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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