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

Rare Disease

ichthyosis, lamellar, autosomal dominant

MONDO:0007812

Also known as:ichthyosis lamellar, autosomal dominantlamellar ichthyosis, autosomal dominant

Overview

GeneticsAutosomal dominant · ASPRV1 (chr 2)

ResearchLimited published research (5 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: Pruritus, Congenital nonbullous ichthyosiform erythroderma, and Thickened, rough skin (hyperkeratosis).

Organ System	Phenotype Count	Example Features
Skin	3	Pruritus, Congenital nonbullous ichthyosiform erythroderma, Thickened, rough skin (hyperkeratosis)

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.

ASPRV1 encodes aspartic peptidase retroviral like 1 (343 aa). Protease responsible for filaggrin processing, essential for the maintenance of a proper epidermis organization Highest expression in Skin Sun Exposed Lower leg (654.5 TPM) and Skin Not Sun Exposed Suprapubic (417.5 TPM).

Ichthyosis, lamellar, autosomal dominant is associated with mutations in the ASPRV1 gene on chromosome 2.

ASPRV1 is classified as a druggable target (Druggable Genome and Protease categories) with score 0.0.

Diagnosis

Genetic testing for ASPRV1 is available. Testing is considered confirmatory for diagnosis.

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

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 ichthyosis, lamellar, autosomal dominant.

5 publications have been identified in PubMed for ichthyosis, lamellar, autosomal dominant. Research spans Case Report / Case Series (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

Süßmuth K (2026). [PMID: 41892076](https://pubmed.ncbi.nlm.nih.gov/41892076/). *Dermatopathology (Basel)*. [Diagnostic / Biomarker]
Al-Bustanji R (2025). [PMID: 41305774](https://pubmed.ncbi.nlm.nih.gov/41305774/). *Medicine*. [Case Report / Case Series]
Mótyán JA (2024). [PMID: 39098535](https://pubmed.ncbi.nlm.nih.gov/39098535/). *The Journal of biological chemistry*. [Basic Science / Preclinical]
Traupe H (2024). [PMID: 39001722](https://pubmed.ncbi.nlm.nih.gov/39001722/). *The Journal of investigative dermatology*. [Review / Meta-Analysis]
Komlosi K (2024). [PMID: 38642798](https://pubmed.ncbi.nlm.nih.gov/38642798/). *The Journal of investigative dermatology*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:146750

GARD

Genetic and Rare Diseases Info Center

GARD:9735

Questions for Your Care Team

→Should I pursue genetic testing for ASPRV1, and what would the results mean for my family?
→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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ichthyosis, lamellar, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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