ORPHA:2222
Hypertrichosis lanuginosa congenita
Synonyms: Hypertrichosis universalis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypertrichosis lanuginosa congenita | Hypertrichosis universalis |
| fr | Hypertrichose congénitale lanugineuse | Hypertrichose universelle |
| de | Hypertrichosis lanuginosa, kongenitale | = en |
| es | Hipertricosis lanuginosa congénita | |
| it | Ipertricosi lanuginosa congenita | Ipertricosi universale |
| nl | Hypertrichosis lanuginosa congenita | = en |
| pt | Hipertricose lanuginosa congénita | Hipertricose universal |
| pl | Wrodzona hipertrichoza płodowa | = en |
| cs | Vrozená lanuginózní hypertrichóza | = en |
| uk | Вроджений пушковий гіпертрихоз | Універсальний гіпертрихоз |
| zh | 先天性多毛柔毛症 | 全身性多毛症 |
| tr | Hipertrikoz lanuginosa konjenita | Universal hipertrikoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145700 | BTNT | validated | |
| OMIM | 145701 | BTNT | validated | |
| OMIM | 307150 | BTNT | validated | |
| ICD-10 | Q84.2 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0016381 | E | validated | |
| MeSH | C538389 | E | validated | |
| UMLS | C0235864 | E | validated | |
| GARD | 2865 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:79365Rare disorder with hypertrichosis
rare genetic diseases; rare skin diseases
4
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| SOX3 | ORPHA:79495X-linked congenital generalized hypertrichosis | Disease-causing germline mutation(s) in | Assessed | HGNC:11199 | ENSG00000134595 | 313430 | Xq27.1 | SRY-box transcription factor 3 | 21636067[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
6
HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000365 | Hearing impairment | |
| HP:0000574 | Thick eyebrow | |
| Frequent (79-30%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| Occasional (29-5%) | ||
| HP:0000212 | Gingival overgrowth | |
Run the differential on the 5 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2222
- This record as JSON: /data/d/2222.json