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

hypotrichosis 1 (HHS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis 1

MONDO:0011549

Also known as:HHSAPCDD1 hypotrichosisHTS

Overview

Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.

GeneticsAutosomal dominant · APCDD1 (chr 18)

OnsetCHILDHOOD

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 always present findings: Sparse hair. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Abnormal nail morphology, Abnormality of the skin

Age of onset: childhood.

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.

APCDD1 encodes APC down-regulated 1 (514 aa). Negative regulator of the Wnt signaling pathway. Inhibits Wnt signaling in a cell-autonomous manner and functions upstream of beta-catenin. May act via its interaction with Wnt and LRP proteins. Highest expression in Skin Not Sun Exposed Suprapubic (99.8 TPM) and Skin Sun Exposed Lower leg (88.0 TPM).

Hypotrichosis 1 is associated with mutations in the APCDD1 gene on chromosome 18.

APCDD1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for APCDD1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present 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 hypotrichosis 1.

5 publications have been identified in PubMed for hypotrichosis 1. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Recent Publications

Shaheen EA (2025). [PMID: 39845463](https://pubmed.ncbi.nlm.nih.gov/39845463/). *JAAD Case Rep*. [Case Report / Case Series]
Holm SØ (2025). [PMID: 40433810](https://pubmed.ncbi.nlm.nih.gov/40433810/). *Pediatr Dermatol*. [Case Report / Case Series]
AlMudimeegh A (2024). [PMID: 39206379](https://pubmed.ncbi.nlm.nih.gov/39206379/). *JAAD Case Rep*. [Case Report / Case Series]
Łuszczyński K (2024). [PMID: 39056788](https://pubmed.ncbi.nlm.nih.gov/39056788/). *Cells*. [Review / Meta-Analysis]
Sun W (2024). [PMID: 38871723](https://pubmed.ncbi.nlm.nih.gov/38871723/). *Nat Commun*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605389

Questions for Your Care Team

→Should I pursue genetic testing for APCDD1, 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?

← Back to All Diseases

hypotrichosis 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team