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autosomal recessive congenital ichthyosis 8 (ARCI8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive congenital ichthyosis 8

MONDO:0013495

Also known as:ARCI8autosomal recessive congenital ichthyosis type 8ichthyosis, congenital, autosomal recessive type 8

Overview

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

GeneticsAutosomal recessive · LIPN (chr 10)

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: Dry, scaly skin (ichthyosis), Hypergranulosis, Epidermal acanthosis, and Orthokeratosis and others. 6 total HPO annotations.

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

Explore clinical features

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.

LIPN encodes lipase family member N (398 aa). Plays a highly specific role in the last step of keratinocyte differentiation. Highest expression in Skin Not Sun Exposed Suprapubic (16.6 TPM) and Skin Sun Exposed Lower leg (12.6 TPM).

Autosomal recessive congenital ichthyosis 8 is associated with mutations in the LIPN gene on chromosome 10.

LIPN is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for autosomal recessive congenital ichthyosis 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 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 8.

16 publications have been identified in PubMed for autosomal recessive congenital ichthyosis 8. Research spans Case Report / Case Series (44%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Patient case studies	7	44%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613943

GARD

Genetic and Rare Diseases Info Center

GARD:16457

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 8

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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