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ichthyosis, congenital, autosomal recessive 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ichthyosis, congenital, autosomal recessive 12

MONDO:0015018

Also known as:ARCI12ichthyosis, congenital, autosomal recessive 12; ARCI12ichthyosis, congenital, autosomal recessive type 12

Overview

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene.

GeneticsAutosomal recessive · CASP14 (chr 19)

Clinical Presentation

Features include: White scaling skin.

Organ System	Phenotype Count	Example Features
Skin	1	White scaling skin

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CASP14 encodes caspase 14 (242 aa). Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum. Highest expression in Skin Sun Exposed Lower leg (655.0 TPM) and Skin Not Sun Exposed Suprapubic (574.7 TPM).

Ichthyosis, congenital, autosomal recessive 12 is associated with mutations in the CASP14 gene on chromosome 19.

The CASP14 protein participates in Keratinocyte of granulosum layer differentiates into corneocyte of corneum layer in interfollicular epidermis pathway.

CASP14 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 4.0.

Diagnosis

Genetic testing for CASP14 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ichthyosis, congenital, autosomal recessive 12 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ichthyosis, congenital, autosomal recessive 12.

14 publications have been identified in PubMed for ichthyosis, congenital, autosomal recessive 12. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (21%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Patient case studies	7	50%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617320

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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ichthyosis, congenital, autosomal recessive 12

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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