Usher syndrome type 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
USH1 |
| Number of Symptoms | 22 |
| OrphanetNr: | 231169 |
| OMIM Id: |
276900
276904 601067 602083 602097 606943 612632 614869 614990 |
| ICD-10: |
H35.5 |
| UMLs: |
C0339533 |
| MeSH: |
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| MedDRA: |
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| Snomed: |
232057003 |
Prevalence, inheritance and age of onset:
| Prevalence: | 1.5 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Usher syndrome
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
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(HPO:0000682) | Abnormality of dental enamel | Occasional [Orphanet] | 102 / 7739 | |||
|
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
|
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(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000512) | Abnormal electroretinogram | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0000540) | Hypermetropia | Frequent [Orphanet] | 99 / 7739 | |||
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(HPO:0000550) | Undetectable electroretinogram | 25 / 7739 | ||||
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(HPO:0001123) | Visual field defect | Very frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0000504) | Abnormality of vision | Very frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0008555) | Absent vestibular function | 2 / 7739 | ||||
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(HPO:0011390) | Morphological abnormality of the inner ear | Very frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0000738) | Hallucinations | Occasional [Orphanet] | 60 / 7739 | |||
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(HPO:0001270) | Motor delay | 322 / 7739 | ||||
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(HPO:0100851) | Abnormal emotion/affect behavior | Occasional [Orphanet] | 85 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
|
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(HPO:0002120) | Cerebral cortical atrophy | Occasional [Orphanet] | 187 / 7739 | |||
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(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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