ORPHA:1410
Uncombable hair syndrome
Synonyms: Pili trianguli et canaliculi
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Uncombable hair syndrome | Pili trianguli et canaliculi |
| fr | Syndrome des cheveux incoiffables | = en |
| de | Syndrom der nicht kämmbaren Haare | = en |
| es | Síndrome del cabello impeinable | |
| it | Sindrome dei capelli non pettinabili | Peli triangolari e scanalati |
| nl | Onkambaar haar-syndroom | = en |
| pt | Síndrome cabelo impenteável | = en |
| pl | Zespół włosów niedających się uczesać | Włosy trójkątne i kanalikowate |
| cs | Syndrom neučesatelných vlasů | = en |
| uk | Синдром нечесаного волосся | = en |
| zh | 难梳头发综合征 | 难梳头发综合征 |
| tr | Taranamayan saç sendromu | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 191480 | BTNT | validated | |
| OMIM | 617251 | BTNT | validated | |
| OMIM | 617252 | BTNT | validated | |
| ICD-10 | Q84.1 | NTBT | attributed | validated |
| ICD-11 | EC21.0 | NTBT | index | validated |
| MONDO | 0008621 | E | validated | |
| MeSH | C536939 | E | validated | |
| UMLS | C0432347 | E | validated | |
| GARD | 5404 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79366Isolated hair shaft abnormality
rare genetic diseases; rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:719OBSOLETE: Pili canulati referred to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PADI3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18337 | ENSG00000142619 | 606755 | 1p36.13 | peptidyl arginine deiminase 3 | 27866708[PMID] |
| TGM3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11779 | ENSG00000125780 | 600238 | 20p13 | transglutaminase 3 | 27866708[PMID] |
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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.
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HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001595 | Abnormality of the hair | |
| HP:0002208 | Coarse hair | |
| HP:0002552 | Trichodysplasia | |
| HP:0011364 | White hair | |
| HP:0002224 | Woolly hair | |
| Occasional (29-5%) | ||
| HP:0002232 | Patchy alopecia | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1410
- This record as JSON: /data/d/1410.json