ORPHA:170
Woolly hair
Synonyms: Familial woolly hair syndrome · Familial wooly hair syndrome · Hereditary woolly hair syndrome · Hereditary wooly hair syndrome · Wooly hair
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital skin disease defined as an abnormality of the structure of the scalp hair and characterized by extreme kinkiness of the hair.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Woolly hair | Familial woolly hair syndrome · Familial wooly hair syndrome · Hereditary woolly hair syndrome · Hereditary wooly hair syndrome · Wooly hair |
| fr | Cheveux laineux | Syndrome des cheveux laineux familial · Syndrome des cheveux laineux héréditaire |
| de | Wollhaare | Wollhaar-Syndrom, familiäres |
| es | Cabello lanoso | Síndrome de cabello lanoso familiar · Síndrome de cabello lanoso hereditario · Síndrome de pelo lanoso |
| it | Capelli lanosi | Sindrome ereditaria dei capelli lanosi · Sindrome familiare dei capelli lanosi |
| nl | Wollig haar | Erfelijk kroeshaarsyndroom · Erfelijk wooly hair-syndroom · Familiaal kroeshaarsyndroom · Familiaal woolly hair-syndroom · Wooly hair |
| pt | Cabelo lanoso | |
| pl | Włosy wełniste | Dziedziczny zespół włosów wełnistych · Rodzinny zespół włosów wełnistych |
| cs | Vlněné vlasy | Familiární syndrom vlněných vlasů · Hereditární syndrom vlněných vlasů |
| uk | Вовняне волосся | Сімейний синдром вовняного волосся · Сімейний синдром вовняного волосся · Спадковий синдром вовняного волосся · Спадковий синдром вовняного волосся · Шерстяне волосся |
| zh | 羊毛状发 | 遗传性羊毛综合症 |
| tr | Yünlü saç | Kıllı saç · Ailesel kıllı saç sendromu · Ailesel kıllı saç sendromu · Kalıtsal kıllı saç sendromu · Kalıtsal yünlü saç sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 194300 | E | validated | |
| OMIM | 278150 | BTNT | validated | |
| OMIM | 604379 | BTNT | validated | |
| OMIM | 615896 | BTNT | validated | |
| OMIM | 616760 | BTNT | validated | |
| ICD-10 | Q84.1 | NTBT | index | validated |
| ICD-11 | EC21.0 | NTBT | index | validated |
| MONDO | 0008686 | E | validated | |
| MeSH | C536745 | E | validated | |
| UMLS | C0343073 | E | validated | |
| GARD | 5597 | E | validated | |
| MedDRA | 10048017 | 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:1409Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome moved to · inactive
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT25 | Disease-causing germline mutation(s) in | Assessed | HGNC:30839 | ENSG00000204897 | 616646 | 17q21.2 | keratin 25 | 26160856[PMID] |
| KRT71 | Disease-causing germline mutation(s) in | Assessed | HGNC:28927 | ENSG00000139648 | 608245 | 12q13.13 | keratin 71 | 22592156[PMID] |
| KRT74 | Disease-causing germline mutation(s) in | Assessed | HGNC:28929 | ENSG00000170484 | 608248 | 12q13.13 | keratin 74 | 20346438[PMID]_21188418[PMID] |
| LIPH | Disease-causing germline mutation(s) in | Assessed | HGNC:18483 | ENSG00000163898 | 607365 | 3q27.2 | lipase H | 21426374[PMID] |
| LPAR6 | Disease-causing germline mutation(s) in | Assessed | HGNC:15520 | ENSG00000139679 | 609239 | 13q14.2 | lysophosphatidic acid receptor 6 | 21426374[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010719 | Abnormality of hair texture | |
| HP:0002299 | Brittle hair | |
| HP:0002213 | Fine hair | |
| HP:0002224 | Woolly hair | |
| Frequent (79-30%) | ||
| HP:0005599 | Hypopigmentation of hair | |
| HP:0002217 | Slow-growing hair | |
| Occasional (29-5%) | ||
| HP:0000615 | Abnormal pupil morphology | |
| HP:0000479 | Abnormal retinal morphology | |
| HP:0000518 | Cataract | |
| HP:0002231 | Sparse body hair | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0000486 | Strabismus | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/170
- This record as JSON: /data/d/170.json