Usher syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
USH Retinitis pigmentosa - deafness |
| Number of Symptoms | 31 |
| OrphanetNr: | 886 |
| OMIM Id: |
276900
276901 276902 276904 500004 601067 602083 602097 605472 606943 611383 612632 614504 614869 614990 |
| ICD-10: |
H35.5 |
| UMLs: |
C0271097 |
| MeSH: |
D052245 |
| MedDRA: |
10063396 |
| Snomed: |
57838006 |
Prevalence, inheritance and age of onset:
| Prevalence: | 4.8 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic genetic deafness
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease Syndromic retinitis pigmentosa -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000789) | Infertility | Occasional [Orphanet] | 74 / 7739 | |||
|
|
(HPO:0000691) | Microdontia | Occasional [Orphanet] | 104 / 7739 | |||
|
|
(HPO:0000670) | Carious teeth | Occasional [Orphanet] | 145 / 7739 | |||
|
|
(HPO:0011073) | Abnormality of dental color | Occasional [Orphanet] | 24 / 7739 | |||
|
|
(HPO:0000682) | Abnormality of dental enamel | Occasional [Orphanet] | 102 / 7739 | |||
|
|
(HPO:0000545) | Myopia | Frequent [Orphanet] | 286 / 7739 | |||
|
|
(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
|
|
(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
|
|
(HPO:0000483) | Astigmatism | Occasional [Orphanet] | 67 / 7739 | |||
|
|
(HPO:0001123) | Visual field defect | Very frequent [Orphanet] | 30 / 7739 | |||
|
|
(HPO:0000512) | Abnormal electroretinogram | Very frequent [Orphanet] | 61 / 7739 | |||
|
|
(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
|
|
(HPO:0000504) | Abnormality of vision | Very frequent [Orphanet] | 22 / 7739 | |||
|
|
(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
|
|
(HPO:0000540) | Hypermetropia | Frequent [Orphanet] | 99 / 7739 | |||
|
|
(HPO:0011390) | Morphological abnormality of the inner ear | Very frequent [Orphanet] | 21 / 7739 | |||
|
|
(HPO:0000360) | Tinnitus | Occasional [Orphanet] | 29 / 7739 | |||
|
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
|
|
(HPO:0010780) | Hyperacusis | Occasional [Orphanet] | 5 / 7739 | |||
|
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(HPO:0000738) | Hallucinations | Occasional [Orphanet] | 60 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Frequent [Orphanet] | 327 / 7739 | |||
|
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(HPO:0100851) | Abnormal emotion/affect behavior | Occasional [Orphanet] | 85 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Occasional [Orphanet] | 212 / 7739 | |||
|
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(HPO:0001638) | Cardiomyopathy | Occasional [Orphanet] | 192 / 7739 | |||
|
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(HPO:0011025) | Abnormality of cardiovascular system physiology | Occasional [Orphanet] | 41 / 7739 | |||
|
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(HPO:0003457) | EMG abnormality | Occasional [Orphanet] | 78 / 7739 | |||
|
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(HPO:0003198) | Myopathy | Occasional [Orphanet] | 151 / 7739 | |||
|
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(HPO:0002334) | Abnormality of the cerebellar vermis | Occasional [Orphanet] | 137 / 7739 | |||
|
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(HPO:0002120) | Cerebral cortical atrophy | Occasional [Orphanet] | 187 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
|
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(HPO:0030089) | Abnormal muscle fiber protein expression | Occasional [Orphanet] | 64 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|