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
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
Search interest in CASP14
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 Germany.
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 United States.
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 United States.
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 United States.
CASP14 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CASP14 gene.
More info about this panel United States.
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