Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

autosomal dominant ichthyosis vulgaris - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant ichthyosis vulgaris

MONDO:0007810

Also known as:dominant congenital ichthyosiform erythrodermaichthyosis vulgaris, autosomal dominantdominant ichthyosis vulgaris

Overview

Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.

GeneticsAutosomal recessive, Autosomal dominant · FLG (chr 1)

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: Absent keratohyalin granules; and common findings: Asthma and Eczematoid dermatitis. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Dry, scaly skin (ichthyosis), Dry skin, Eczematoid dermatitis

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.

FLG encodes filaggrin (4,061 aa). Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis Highest expression in Skin Sun Exposed Lower leg (431.7 TPM) and Skin Not Sun Exposed Suprapubic (229.7 TPM).

Autosomal dominant ichthyosis vulgaris is associated with mutations in the FLG gene on chromosome 1.

The FLG protein participates in p-8Y- FGFR1 R576W, p-8Y-FGFR1 N546K, and p-8Y-FGFR1 K656E pathways.

FLG is classified as a druggable target with score 52.2.

Diagnosis

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

Biomarker and diagnostic research for autosomal dominant ichthyosis vulgaris has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 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 autosomal dominant ichthyosis vulgaris.

37 publications have been identified in PubMed for autosomal dominant ichthyosis vulgaris. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (22%).

Research Type	Count	% of Total
Patient case studies	13	36%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:146700

Orphanet

European rare disease database

Orphanet:462

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?

← Back to All Diseases

Kisho

autosomal dominant ichthyosis vulgaris

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

autosomal dominant ichthyosis vulgaris

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications