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hypotrichosis 8 (HYPT8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis 8

MONDO:0010206

Also known as:HYPT8LAH3LPAR6 hypotrichosis

Overview

Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.

GeneticsAutosomal recessive · LPAR6 (chr 13)

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: Woolly hair, Dry hair, Sparse scalp hair, and Coarse hair; and sometimes findings: Ridged nail, Nail pits, and Sparse axillary hair. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Ridged nail, Excessive sweating (hyperhidrosis), Nail pits

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.

LPAR6 encodes lysophosphatidic acid receptor 6 (344 aa). Binds to oleoyl-L-alpha-lysophosphatidic acid (LPA). Intracellular cAMP is involved in the receptor activation. Important for the maintenance of hair growth and texture Highest expression in Vagina (65.9 TPM) and Esophagus Mucosa (55.4 TPM).

Hypotrichosis 8 is associated with mutations in the LPAR6 gene on chromosome 13.

LPAR6 is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 4.4.

Diagnosis

Genetic testing for LPAR6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 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 hypotrichosis 8.

211 publications have been identified in PubMed for hypotrichosis 8. Kisho has analyzed 103 by research type. Research spans Review / Meta-Analysis (29%), Clinical Trial Publication (26%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Research summaries	30	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:45 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:278150

GARD

Genetic and Rare Diseases Info Center

GARD:15247

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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hypotrichosis 8

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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