Albinism-deafness syndrome
Synonyms: Albinism-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A rare disorder characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Albinism-deafness syndrome | Albinism-hearing loss syndrome |
| fr | Syndrome d'albinisme-surdité | |
| de | Albinismus-Schwerhörigkeit-Syndrom | ADFN · Albinismus-Taubheit-Syndrom |
| es | Síndrome de albinismo-sordera | Síndrome de albinismo-hipoacusia |
| it | Albinismo - sordità | |
| nl | Albinisme - doofheid-syndroom | |
| pt | Síndrome de albinismo-surdez | |
| pl | Zespół głuchoty i albinizmu | = en |
| cs | Syndrom zahrnující albinismus a hluchotu | = en |
| uk | Синдром альбінізму-глухоти | Синдром альбінізму-втрати слуху |
| zh | 白化病-耳聋综合征 | 白化病-听力丧失综合征 |
| tr | Albinizm-sağırlık sendromu | Albinizm-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300700 | E | validated | |
| ICD-10 | H90.5 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0010403 | E | validated | |
| MeSH | C537042 | E | validated | |
| UMLS | C1845068 | E | validated | |
| GARD | 589 | 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 (3):
- ORPHA:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases - 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 | 1 families | Worldwide | Family(ies) | Validated | 14469778[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14469778[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0007443 | Partial albinism | |
| HP:0007544 | Piebaldism | |
| Occasional (29-5%) | ||
| HP:0001100 | Heterochromia iridis | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/998
- This record as JSON: /data/d/998.json