isolated familial wooly hair disorder
Findings
No curated finding names isolated familial wooly hair disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.
Definition from the Mondo Disease Ontology (MONDO:0008686), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Abnormality of hair textureHPOHP:0010719
- Very frequent (80% to 99% of cases)
- Brittle hairHPOHP:0002299
- Very frequent (80% to 99% of cases)
- Fine hairHPOHP:0002213
- Very frequent (80% to 99% of cases)
- Woolly hairHPO · MondoHP:0002224
- Very frequent (80% to 99% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Frequent (30% to 79% of cases)
- Slow-growing hairHPOHP:0002217
- Frequent (30% to 79% of cases)
- Abnormal pupil morphologyHPOHP:0000615
- Occasional (5% to 29% of cases)
- Abnormal retinal morphologyHPOHP:0000479
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Sparse body hairHPOHP:0002231
- Occasional (5% to 29% of cases)
- Sparse lateral eyebrowHPOHP:0005338
- Occasional (5% to 29% of cases)
- StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
Genes
5 genes
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.
- KRT25HGNC:30839
- Supportive · Orphanet · Autosomal dominant · 2021
- KRT71HGNC:28927
- Supportive · Orphanet · Autosomal dominant · 2021
- KRT74HGNC:28929
- Supportive · Orphanet · Autosomal dominant · 2021
- LIPHHGNC:18483
- Supportive · Orphanet · Autosomal dominant · 2021
- LPAR6HGNC:15520
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: isolated familial wooly hair disorder
- Also called
- familial woolly hair syndromefamilial wooly hair syndromehereditary woolly hair syndromehereditary wooly hair syndromewoolly hairwooly hair