CASP14 gene related symptoms and diseases

All the information presented here about the CASP14 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CASP14 gene

Symptoms // Phenotype % Cases
Ichthyosis Very Common - Between 80% and 100% cases
Erythroderma Very Common - Between 80% and 100% cases
Congenital ichthyosiform erythroderma Very Common - Between 80% and 100% cases
Congenital nonbullous ichthyosiform erythroderma Very Common - Between 80% and 100% cases
Generalized ichthyosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CASP14 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • White scaling skin
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Rare diseases associated to CASP14 gene

Here you will find a list of rare diseases related to the CASP14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12


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 ) (Oji et al., 2010).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

Most common symptoms of ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12

  • Ichthyosis
  • Erythroderma
  • Congenital ichthyosiform erythroderma
  • Congenital nonbullous ichthyosiform erythroderma
  • Generalized ichthyosis


More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12; ARCI12

SOURCES: OMIM


Potential gene panels for CASP14 gene

CASP14 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CASP14 gene.

More info about this panel

Ichthyosis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis Deletion / Duplication panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel

Ichthyosis NGS panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis NGS panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel

Ichthyosis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Ichthyosis Comprehensive panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN

More info about this panel

CASP14 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CASP14 gene.

More info about this panel


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