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ichthyosis, congenital, autosomal recessive 14 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ichthyosis, congenital, autosomal recessive 14

MONDO:0033091

Also known as:ARCI14autosomal recessive congenital ichthyosis 14

Overview

GeneticsAutosomal recessive · SULT2B1 (chr 19)

ResearchLimited published research (7 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: Scaling skin, Orthokeratotic hyperkeratosis, Erythema, and Thickened, rough skin (hyperkeratosis); and common findings: Pruritus and Congenital nonbullous ichthyosiform erythroderma.

Organ System	Phenotype Count	Example Features
Skin	6	Scaling skin, Orthokeratotic hyperkeratosis, Pruritus

Genetic Landscape

SULT2B1 function has not been fully characterized.

Ichthyosis, congenital, autosomal recessive 14 is associated with mutations in the SULT2B1 gene on chromosome 19.

Diagnosis

Genetic testing for SULT2B1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 2 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 ichthyosis, congenital, autosomal recessive 14.

7 publications have been identified in PubMed for ichthyosis, congenital, autosomal recessive 14. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (29%), and Basic Science / Preclinical (29%).

Recent Publications

Elendu C (2026). [PMID: 42052316](https://pubmed.ncbi.nlm.nih.gov/42052316/). *Clin Case Rep*. [Case Report / Case Series]
Angel M (2025). [PMID: 40275410](https://pubmed.ncbi.nlm.nih.gov/40275410/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]
Guo Y (2025). [PMID: 40193669](https://pubmed.ncbi.nlm.nih.gov/40193669/). *Medicine (Baltimore)*. [Review / Meta-Analysis]
Maarouf S (2025). [PMID: 39659087](https://pubmed.ncbi.nlm.nih.gov/39659087/). *Pediatr Dermatol*. [Review / Meta-Analysis]
Xiang R (2025). [PMID: 40709761](https://pubmed.ncbi.nlm.nih.gov/40709761/). *Acta Derm Venereol*. [Review / Meta-Analysis]

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:617571

GARD

Genetic and Rare Diseases Info Center

GARD:16471

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 14

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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