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autosomal recessive congenital ichthyosis 6 (ARCI6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive congenital ichthyosis 6

MONDO:0012847

Also known as:ARCI6autosomal recessive congenital ichthyosis type 6ichthyosis, congenital, autosomal recessive type 6

Overview

Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene.

GeneticsAutosomal recessive · NIPAL4 (chr 5)

OnsetINFANTILE

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: Palmoplantar keratoderma and Generalized ichthyosis; and common findings: Congenital nonbullous ichthyosiform erythroderma. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	7	Dry skin, Scaling skin, Decreased sweating (hypohidrosis)

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.

NIPAL4 encodes NIPA like domain containing 4 (404 aa). Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Sr(2+) and Fe(2+) but to a much less extent than Mg(2+). Highest expression in Skin Sun Exposed Lower leg (79.9 TPM) and Skin Not Sun Exposed Suprapubic (79.3 TPM).

Autosomal recessive congenital ichthyosis 6 is associated with mutations in the NIPAL4 gene on chromosome 5.

NIPAL4 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for NIPAL4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive congenital ichthyosis 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 common 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 autosomal recessive congenital ichthyosis 6.

17 publications have been identified in PubMed for autosomal recessive congenital ichthyosis 6. Research spans Case Report / Case Series (71%), Basic Science / Preclinical (18%), and Diagnostic / Biomarker (6%).

Research Type	Count	% of Total
Patient case studies	12	71%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:44 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612281

GARD

Genetic and Rare Diseases Info Center

GARD:15547

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 6

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 6

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