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autosomal recessive congenital ichthyosis 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive congenital ichthyosis 10

MONDO:0014011

Also known as:ARCI10autosomal recessive congenital ichthyosis type 10ichthyosis, congenital, autosomal recessive type 10

Overview

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene.

GeneticsAutosomal recessive · PNPLA1 (chr 6)

OnsetCONGENITAL

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: Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, and Generalized ichthyosis. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	5	Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma

Genetic Landscape

PNPLA1 function has not been fully characterized.

Autosomal recessive congenital ichthyosis 10 is associated with mutations in the PNPLA1 gene on chromosome 6.

Diagnosis

Genetic testing for PNPLA1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 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 10.

13 publications have been identified in PubMed for autosomal recessive congenital ichthyosis 10. Research spans Case Report / Case Series (31%), Basic Science / Preclinical (31%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Patient case studies	4	31%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615024

GARD

Genetic and Rare Diseases Info Center

GARD:15897

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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Kisho

autosomal recessive congenital ichthyosis 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

autosomal recessive congenital ichthyosis 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications