Ocular albinism with late-onset sensorineural deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OASD Ocular albinism with sensorineural deafness Deafness and ocular albinism |
| Number of Symptoms | 15 |
| OrphanetNr: | 1000 |
| OMIM Id: |
300650
|
| ICD-10: |
E70.3 H90.5 |
| UMLs: |
C1845069 |
| MeSH: |
C537043 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 7 cases - PMID: 6542750, 8288253 [IBIS] |
| Inheritance: |
X-linked - PMID: 6542750 [IBIS] |
| Age of onset: |
Adult - PMID: 6542750 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ocular albinism
-Rare eye disease -Rare genetic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Comment:
| Ocular albinism with late-onset sensorineural deafness (OASD) is an X-linked recessive disorder characterized by ocular albinism and progressive sensorineural hearing loss in the fourth and fifth decades of life OASD is caused by mutation in TBL1 (locus Xp22.3) (PMID:10330347). |
Symptom Information:
|
|
(HPO:0000505) | Visual impairment | Very frequent [Orphanet] | 6542750 | IBIS | 297 / 7739 | |
|
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(HPO:0007680) | Depigmented fundus | 6542750 | IBIS | 2 / 7739 | ||
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(HPO:0000613) | Photophobia | Very frequent [Orphanet] | 6542750 | IBIS | 158 / 7739 | |
|
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 6542750 | IBIS | 576 / 7739 | |
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(HPO:0001361) | Nystagmus-induced head nodding | 6542750 | IBIS | 2 / 7739 | ||
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(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 6542750 | IBIS | 555 / 7739 | |
|
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(HPO:0001107) | Ocular albinism | Very frequent [Orphanet] | 6542750 | IBIS | 40 / 7739 | |
|
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(HPO:0008615) | Adult onset sensorineural hearing impairment | 8288253 | IBIS | 4 / 7739 | ||
|
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 8288253 | IBIS | 524 / 7739 | |
|
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(HPO:0001022) | Albinism | 6542750 | IBIS | 43 / 7739 | ||
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(HPO:0005592) | Giant melanosomes in melanocytes | 6542750 | IBIS | 4 / 7739 | ||
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(OMIM) | Macromelanosomes on EM | 6542750 | IBIS | 2 / 7739 | ||
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(OMIM) | Albino pupillary reflex | 6542750 | IBIS | 2 / 7739 | ||
|
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(OMIM) | Prominent choroidal vessels | 6542750 | IBIS | 2 / 7739 | ||
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(OMIM) | Head nodding | 6542750 | IBIS | 5 / 7739 |
Associated genes:
| TBL1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|