ORPHA:444
Marie Unna hereditary hypotrichosis
Synonyms: Hypotrichosis, Marie Unna type · MUHH · Marie Unna congenital hypotrichosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Marie Unna hereditary hypotrichosis | Hypotrichosis, Marie Unna type · MUHH · Marie Unna congenital hypotrichosis |
| fr | Hypotrichose héréditaire de Marie Unna | Hypotrichose congénitale de Marie Unna · Hypotrichose type Marie Unna · MUHH |
| de | Hypotrichose, hereditäre, Typ Marie Unna | Hypotrichose Typ Marie Unna · MUHH · Marie Unna kongenitale Hypotrichose |
| es | Hipotricosis hereditaria de Marie Unna | Hipotricosis congénita de Marie Unna · Hipotricosis tipo Marie Unna · MUHH |
| it | Ipotricosi ereditaria di Marie Unna | Ipotricosi congenita di Marie Unna · Ipotricosi, tipo Marie Unna · MUHH |
| nl | Erfelijke hypotrichose, Marie Unna-type | Congenitale hypotrichose van Marie Unna · Hypotrichose, Marie Unna-type · MUHH |
| pt | Hipotricose congénita de Marie-Unna | |
| pl | Dziedziczna hipotrichoza Marie Unna | Dziedziczna hipotrichoza Marie Unna · Hipotrichoza, typu Marie Unna · MUHH |
| cs | Hereditární hypotrichóza Marie Unnové | Hypotrichóza, typ Marie Unnová · MUHH · Vrozená hypotrichóza Marie Unnové |
| uk | Спадковий гіпотрихоз Марії Унни | Гіпотрихоз, тип Марії Унни · Вроджений гіпотрихоз Марії Унни · MUHH |
| zh | Marie-Unna遗传性稀毛症 | 先天性少毛症Marie Unna型 |
| tr | Marie Unna kalıtsal hipotrikoz | MUHH · Hipotrikoz, Marie Unna tipi · Marie Unna doğumsal hipotrikoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146550 | BTNT | validated | |
| OMIM | 612841 | BTNT | validated | |
| ICD-10 | Q84.0 | NTBT | attributed | validated |
| ICD-11 | EC21.2 | NTBT | index | validated |
| MONDO | 0018631 | E | validated | |
| MeSH | C535912 | E | validated | |
| UMLS | C2931059 | E | validated | |
| GARD | 3390 | 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 (2):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:481771Genetic alopecia
rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EPS8L3 | Disease-causing germline mutation(s) in | Assessed | HGNC:21297 | ENSG00000198758 | 614989 | 1p13.3 | EPS8 signaling adaptor L3 | 23099647[PMID] |
| HR | Disease-causing germline mutation(s) in | Assessed | HGNC:5172 | ENSG00000168453 | 602302 | 8p21.3 | HR lysine demethylase and nuclear receptor corepressor | 19122663[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0002208 | Coarse hair | |
| HP:0200102 | Sparse or absent eyelashes | |
| HP:0002209 | Sparse scalp hair | |
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/444
- This record as JSON: /data/d/444.json