Pili torti
Synonyms: Twisted hair
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pili torti | Twisted hair |
| fr | Pili torti | |
| de | Pili torti | |
| es | Pili torti | |
| it | Pili torti | |
| nl | Pili torti | Gedraaid haar |
| pt | Pili torti | |
| pl | Włosy skręcone | Włosy skręcone |
| cs | Pili torti | Nemoc přetáčení vlasů |
| uk | Перекручене волосся | Скручене волосся |
| zh | 卷发 | 扭发 |
| tr | Pili torti | Bükümlü saç |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261900 | E | validated | |
| ICD-10 | Q84.1 | NTBT | attributed | validated |
| ICD-11 | EC21.0 | NTBT | index | validated |
| MONDO | 0009870 | E | validated | |
| MeSH | C562485 | E | validated | |
| UMLS | C0263491 | E | validated | |
| GARD | 4361 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79366Isolated hair shaft abnormality
rare genetic diseases; rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010719 | Abnormality of hair texture | |
| HP:0003777 | Pili torti | |
| Frequent (79-30%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001596 | Alopecia | |
| HP:0002299 | Brittle hair | |
| Occasional (29-5%) | ||
| HP:0000365 | Hearing impairment | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2889
- This record as JSON: /data/d/2889.json