Pili torti
disease diseaseOn this page
Also known as coarse, dry, lusterless hair which breaks off easilypili torti (disease)twisted hair
Summary
Pili torti (MONDO:0009870) is a disease. A subtype of hair anomaly — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide)
- Phenotypes (HPO): 9
Clinical features
Signs & symptoms
Clinical features (HPO)
9 HPO clinical features (Orphanet curated; top 9 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0003777 | Pili torti | Very frequent (80-99%) |
| HP:0010719 | Abnormality of hair texture | Very frequent (80-99%) |
| HP:0000164 | Abnormality of the dentition | Frequent (30-79%) |
| HP:0000534 | Abnormal eyebrow morphology | Frequent (30-79%) |
| HP:0000682 | Abnormality of dental enamel | Frequent (30-79%) |
| HP:0001596 | Alopecia | Frequent (30-79%) |
| HP:0001597 | Abnormality of the nail | Frequent (30-79%) |
| HP:0002299 | Brittle hair | Frequent (30-79%) |
| HP:0000365 | Hearing impairment | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | pili torti |
| Mondo ID | MONDO:0009870 |
| MeSH | C562485 |
| OMIM | 261900 |
| Orphanet | 2889 |
| ICD-11 | 813238041 |
| SNOMED CT | 17170005 |
| UMLS | C0263491 |
| MedGen | 82670 |
| GARD | 0004361 |
| Is cancer (heuristic) | no |
Also known as: coarse, dry, lusterless hair which breaks off easily · pili torti · pili torti (disease) · twisted hair
Data availability: 1 HPO phenotype.
Disease family
This is a subtype of hair anomaly. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › disorder of pilosebaceous unit › hair anomaly › pili torti
Related subtypes (7): alopecia, ringed hair disease, trichodysplasia-xeroderma syndrome, uncombable hair syndrome, isolated familial wooly hair disorder, pili bifurcati, pili gemini
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.