Ermine phenotype
Synonyms: O'Doherty syndrome · Pigmentary disorder with deafness · Pigmentary disorder with hearing loss
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ermine phenotype | O'Doherty syndrome · Pigmentary disorder with deafness · Pigmentary disorder with hearing loss |
| fr | Phénotype hermine | Syndrome d'O'Doherty |
| de | Albinismus, kutaner, Hermelin-Phänotyp | O'Doherty-Syndrom · Pigmentstörung mit Hörverlust |
| es | Albinismo cutáneo, fenotipo Hermine | Síndrome de O'Doherty · Trastorno pigmentario con hipoacusia · Trastorno pigmentario con sordera |
| it | Fenotipo ermellino | |
| nl | Hermelijn-fenotype | Pigmentatiestoornis met gehoorverlies · Syndroom van O'Doherty |
| pt | Fenótipo Hermine | Albinismo cutâneo fenótipo Hermine · Síndrome O'Doherty |
| pl | Fenotyp gronostaja | Zaburzenia pigmentacji z utratą słuchu · Zespół O'Doherty |
| cs | Hermelínový fenotyp | O'Dohertyho syndrom · Porucha pigmentace se ztrátou sluchu |
| uk | Фенотип горностая | Синдром ОДоерті · Пігментний розлад з глухотою · Пігментний розлад зі зниженням слуху |
| zh | 色素紊乱伴发听力损失 | 色素异常伴听力丧失 |
| tr | Ermin fenotipi | O'Doherty sendromu · Sağırlık ile seyreden pigment bozukluğu · İşitme kaybı ile seyreden pigment bozukluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 227010 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009196 | E | validated | |
| MeSH | C535508 | E | validated | |
| UMLS | C1856899 | E | validated | |
| GARD | 407 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 3055988[PMID]_19449401[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3055988[PMID]_19449401[PMID] |
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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0001256 | Intellectual disability, mild | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000366 | Abnormality of the nose | |
| HP:0000483 | Astigmatism | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001252 | Hypotonia | |
| HP:0007730 | Iris hypopigmentation | |
| HP:0000252 | Microcephaly | |
| HP:0000639 | Nystagmus | |
| HP:0001107 | Ocular albinism | |
| HP:0000613 | Photophobia | |
| HP:0001770 | Toe syndactyly | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/999
- This record as JSON: /data/d/999.json