ARCI12
MCID: ICH071
MIFTS: 18
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Ichthyosis, Congenital, Autosomal Recessive 12 (ARCI12)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Ichthyosis, Congenital, Autosomal Recessive 12:Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Skin diseases Eye diseases |
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 eye, 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 via clinical synopsis from OMIM:57Clinical features from OMIM:617320Human phenotypes related to Ichthyosis, Congenital, Autosomal Recessive 12:32
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MalaCards organs/tissues related to Ichthyosis, Congenital, Autosomal Recessive 12:41
Skin,
Eye
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ClinVar genetic disease variations for Ichthyosis, Congenital, Autosomal Recessive 12:6
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Search
GEO
for disease gene expression data for Ichthyosis, Congenital, Autosomal Recessive 12.
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