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ichthyosis, congenital, autosomal recessive 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ichthyosis, congenital, autosomal recessive 13

MONDO:0033092

Also known as:ARCI13autosomal recessive congenital ichthyosis 13

Overview

GeneticsAutosomal recessive · SDR9C7 (chr 12)

ResearchLimited published research (6 articles)

Clinical Presentation

Features include always present findings: Hypergranulosis. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Dry, scaly skin (ichthyosis), Palmoplantar hyperkeratosis, Thickened, rough skin (hyperkeratosis)

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Genetic Landscape

SDR9C7 function has not been fully characterized.

Ichthyosis, congenital, autosomal recessive 13 is associated with mutations in the SDR9C7 gene on chromosome 12.

Diagnosis

Genetic testing for SDR9C7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ichthyosis, congenital, autosomal recessive 13 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 13.

6 publications have been identified in PubMed for ichthyosis, congenital, autosomal recessive 13. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Other (17%).

Recent Publications

Süßmuth K (2026). [PMID: 41892076](https://pubmed.ncbi.nlm.nih.gov/41892076/). *Dermatopathology (Basel)*. [Diagnostic / Biomarker]
Xiang R (2025). [PMID: 40709761](https://pubmed.ncbi.nlm.nih.gov/40709761/). *Acta Derm Venereol*. [Review / Meta-Analysis]
Jazmati A (2025). [PMID: 40851976](https://pubmed.ncbi.nlm.nih.gov/40851976/). *Ann Med Surg (Lond)*. [Case Report / Case Series]
Dubot P (2025). [PMID: 38706107](https://pubmed.ncbi.nlm.nih.gov/38706107/). *J Inherit Metab Dis*. [Review / Meta-Analysis]
Tandon S (2024). [PMID: 39635786](https://pubmed.ncbi.nlm.nih.gov/39635786/). *Indian J Dermatol Venereol Leprol*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617574

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 13

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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