Retinitis pigmentosa
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 30 |
| OrphanetNr: | 791 |
| OMIM Id: |
180100
180104 180105 180210 268000 268025 268060 300029 300155 300424 300605 312600 312612 400004 600059 600105 600132 600138 600852 601414 601718 602594 602772 604232 604393 606068 607921 608133 608380 609913 609923 610282 610359 610599 611131 612095 612165 612572 612712 612943 613194 613341 613428 613464 613575 613581 613582 613617 613660 613731 613750 613756 613758 613767 613769 613794 613801 613809 613810 613827 613861 613862 613983 614180 614181 614494 614500 615233 615434 615565 |
| ICD-10: |
H35.5 |
| UMLs: |
C0035334 |
| MeSH: |
D012174 |
| MedDRA: |
10038914 |
| Snomed: |
28835009 |
Prevalence, inheritance and age of onset:
| Prevalence: | 30 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive Autosomal dominant X-linked X-linked recessive Mitochondrial [Orphanet] |
| Age of onset: |
Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Retinal dystrophy -Rare eye disease -Rare genetic disease |
Symptom Information:
|
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(HPO:0008734) | Decreased testicular size | Very frequent [Orphanet] | 105 / 7739 | |||
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(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
|
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(HPO:0000431) | Wide nasal bridge | Very frequent [Orphanet] | 290 / 7739 | |||
|
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(HPO:0100692) | Increased corneal curvature | Frequent [Orphanet] | 13 / 7739 | |||
|
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(HPO:0000504) | Abnormality of vision | Very frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0000505) | Visual impairment | Very frequent [Orphanet] | 297 / 7739 | |||
|
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(HPO:0000512) | Abnormal electroretinogram | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0000613) | Photophobia | Very frequent [Orphanet] | 158 / 7739 | |||
|
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
|
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(HPO:0007688) | Undetectable light- and dark-adapted electroretinogram | 9 / 7739 | ||||
|
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(HPO:0000662) | Nyctalopia | 92 / 7739 | ||||
|
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(HPO:0008046) | Abnormality of the retinal vasculature | Very frequent [Orphanet] | 41 / 7739 | |||
|
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(HPO:0000501) | Glaucoma | Frequent [Orphanet] | 180 / 7739 | |||
|
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(HPO:0007737) | Bone spicule pigmentation of the retina | 26 / 7739 | ||||
|
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(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
|
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(HPO:0001133) | Constriction of peripheral visual field | 33 / 7739 | ||||
|
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(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 555 / 7739 | |||
|
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(HPO:0000597) | Ophthalmoparesis | Frequent [Orphanet] | 71 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | Very frequent [Orphanet] | 164 / 7739 | |||
|
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
|
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(HPO:0001347) | Hyperreflexia | Occasional [Orphanet] | 363 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000842) | Hyperinsulinemia | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0005978) | Type II diabetes mellitus | Occasional [Orphanet] | 68 / 7739 | |||
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(HPO:0001513) | Obesity | Frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0000987) | Atypical scarring of skin | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|