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autosomal recessive congenital ichthyosis 9 (ARCI9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive congenital ichthyosis 9

MONDO:0014010

Also known as:ARCI9autosomal recessive congenital ichthyosis type 9ichthyosis, congenital, autosomal recessive type 9

Overview

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene.

GeneticsAutosomal recessive · CERS3 (chr 15)

ResearchLimited published research (6 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: Palmar hyperlinearity, Eclabion, Epidermal acanthosis, and Ectropion and others. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Decreased sweating (hypohidrosis), Congenital nonbullous ichthyosiform erythroderma, Thickened, rough skin (hyperkeratosis)

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.

CERS3 encodes ceramide synthase 3 (383 aa). Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very- and ultra-long-chain fatty acyl-CoA (chain length greater than C22). Highest expression in Skin Not Sun Exposed Suprapubic (63.1 TPM) and Skin Sun Exposed Lower leg (61.6 TPM).

Autosomal recessive congenital ichthyosis 9 is associated with mutations in the CERS3 gene on chromosome 15.

The CERS3 protein participates in Ceramide synthases transfer acyl-CoA onto sphingoid pathway.

CERS3 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for CERS3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present 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 9.

6 publications have been identified in PubMed for autosomal recessive congenital ichthyosis 9. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (33%), and Review / Meta-Analysis (17%).

Recent Publications

Hayashi M (2026). [PMID: 42145896](https://pubmed.ncbi.nlm.nih.gov/42145896/). *Case Rep Dermatol*. [Case Report / Case Series]
Dubot P (2025). [PMID: 38706107](https://pubmed.ncbi.nlm.nih.gov/38706107/). *Journal of inherited metabolic disease*. [Basic Science / Preclinical]
Schratter M (2025). [PMID: 40818613](https://pubmed.ncbi.nlm.nih.gov/40818613/). *Journal of lipid research*. [Basic Science / Preclinical]
Xiang R (2025). [PMID: 40709761](https://pubmed.ncbi.nlm.nih.gov/40709761/). *Acta dermato-venereologica*. [Review / Meta-Analysis]
van der Velden JJAJ (2024). [PMID: 39072839](https://pubmed.ncbi.nlm.nih.gov/39072839/). *The Journal of dermatology*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615023

GARD

Genetic and Rare Diseases Info Center

GARD:15896

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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autosomal recessive congenital ichthyosis 9

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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