monilethrix
MONDO:0008009Mondo
Findings
No curated finding names monilethrix yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.
Definition from the Mondo Disease Ontology (MONDO:0008009), read 2026-09-29. CC BY 4.0.
Features
14 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.
- Abnormal eyebrow morphologyHPOHP:0000534
- Very frequent (80% to 99% of cases)
- Abnormal eyelash morphologyHPOHP:0000499
- Very frequent (80% to 99% of cases)
- Abnormal nail morphologyHPOHP:0001597
- 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)
- Follicular hyperkeratosisHPOHP:0007502
- Very frequent (80% to 99% of cases)
- Patchy alopeciaHPOHP:0002232
- Very frequent (80% to 99% of cases)
- Slow-growing hairHPOHP:0002217
- Very frequent (80% to 99% of cases)
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
Show the remaining 2
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- SchizophreniaHPOHP:0100753
- Occasional (5% to 29% of cases)
Genes
4 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.
- KRT83HGNC:6460
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · G2P · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- KRT86HGNC:6463
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- KRT81HGNC:6458
- Moderate · G2P · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- HGNC:21307
Where it sits
- Narrower terms (3)
Other names
1 name
Resolves to: monilethrix
- Also called
- moniliform hair syndrome