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autosomal recessive congenital ichthyosis 7 (ARCI7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive congenital ichthyosis 7

MONDO:0014009

Also known as:ARCI7autosomal recessive congenital ichthyosis type 7ichthyosis, congenital, autosomal recessive 7

Overview

An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1.

GeneticsAutosomal recessive

ResearchLimited published research (3 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: Dry, scaly skin (ichthyosis), Erythroderma, and Palmoplantar keratoderma. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Dry, scaly skin (ichthyosis), Palmoplantar keratoderma

Explore clinical features

Prognosis

Phenotype severity distribution: 3 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 7.

3 publications have been identified in PubMed for autosomal recessive congenital ichthyosis 7. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Peng Y (2026). [PMID: 41964248](https://pubmed.ncbi.nlm.nih.gov/41964248/). *The Journal of dermatology*. [Basic Science / Preclinical]
Elgie T (2026). [PMID: 42001132](https://pubmed.ncbi.nlm.nih.gov/42001132/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Jazmati A (2025). [PMID: 40851976](https://pubmed.ncbi.nlm.nih.gov/40851976/). *Annals of medicine and surgery (2012)*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615022

GARD

Genetic and Rare Diseases Info Center

GARD:15895

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 7

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations.

autosomal recessive congenital ichthyosis 7

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis Associated With Hirschsprung Disease and Bartter-Like Renal Manifestations.