hypotrichosis 1
MONDO:0011549Mondo
Findings
No curated finding names hypotrichosis 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011549), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Sparse hairHPOHP:0008070
- 19 of 19 reported patients · Childhood onset
- Abnormal nail morphologyHPOHP:0001597
- 0 of 19 reported patients
- Abnormality of the dentitionHPOHP:0000164
- 0 of 19 reported patients
- Abnormality of the skinHPOHP:0000951
- 0 of 19 reported patients
- Sparse eyebrowHPOHP:0045075
- 0 of 19 reported patients
- Sparse eyelashesHPOHP:0000653
- 0 of 19 reported patients
- Sparse axillary hairHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- APCDD1HGNC:15718
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: hypotrichosis 1
- Also called
- APCDD1 hypotrichosishereditary generalised hypotrichosis simplexHTShypotrichosis caused by mutation in APCDD1hypotrichosis type 1HYPT1