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autosomal recessive congenital ichthyosis 4A - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive congenital ichthyosis 4A

MONDO:0011026

Also known as:ARCI4AICR2Bautosomal recessive congenital ichthyosis type 4A

Overview

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene.

GeneticsAutosomal recessive · ABCA12 (chr 2)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Congenital nonbullous ichthyosiform erythroderma; and very common findings: Ectropion and Palmoplantar keratoderma. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma

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.

ABCA12 encodes ATP binding cassette subfamily A member 12 (2,595 aa). Transports lipids such as glucosylceramides from the outer to the inner leaflet of lamellar granules (LGs) membrane, whereby the lipids are finally transported to the keratinocyte periphery via the trans-Golgi network and LGs and released to the apical surface of the granular keratinocytes to form lipid lamellae in the stratum corneum of the epidermis, which is essential for skin barrier function. Highest expression in Skin Sun Exposed Lower leg (36.2 TPM) and Skin Not Sun Exposed Suprapubic (32.0 TPM).

Autosomal recessive congenital ichthyosis 4A is associated with mutations in the ABCA12 gene on chromosome 2.

The ABCA12 protein participates in ABCA12 K1671Ifs*4, ABCA12 V2442Sfs*22, and Defective ABCA12 causes ARCI4B pathways.

ABCA12 is classified as a druggable target (Abc Transporter, Druggable Genome, and Transporter categories) with score 0.0.

76 pathogenic variants reported in ABCA12 in ClinVar.

Diagnosis

Genetic testing for ABCA12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive congenital ichthyosis 4A has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features.

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 autosomal recessive congenital ichthyosis 4A.

5 publications have been identified in PubMed for autosomal recessive congenital ichthyosis 4A. Research spans Basic Science / Preclinical (40%), Diagnostic / Biomarker (20%), and Case Report / Case Series (20%).

Recent Publications

Dubot P (2025). [PMID: 38706107](https://pubmed.ncbi.nlm.nih.gov/38706107/). *Journal of inherited metabolic disease*. [Basic Science / Preclinical]
Hino R (2024). [PMID: 39917683](https://pubmed.ncbi.nlm.nih.gov/39917683/). *Frontiers in dental medicine*. [Case Report / Case Series]
Diociaiuti A (2024). [PMID: 38588653](https://pubmed.ncbi.nlm.nih.gov/38588653/). *Dermatology (Basel, Switzerland)*. [Epidemiology / Natural History]
Ho M (2024). [PMID: 38627868](https://pubmed.ncbi.nlm.nih.gov/38627868/). *Human genomics*. [Basic Science / Preclinical]
Zhu L (2024). [PMID: 39748812](https://pubmed.ncbi.nlm.nih.gov/39748812/). *Frontiers in pediatrics*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601277

GARD

Genetic and Rare Diseases Info Center

GARD:9733

Questions for Your Care Team

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autosomal recessive congenital ichthyosis 4A

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Subtypes

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Questions for Your Care Team

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