Retinal degeneration - nanophthalmos - glaucoma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Mackay-Shek-Carr syndrome |
| Number of Symptoms | 24 |
| OrphanetNr: | 1574 |
| OMIM Id: |
267760
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 7 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic developmental defect of the eye
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Retinal dystrophy -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
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(HPO:0000662) | Nyctalopia | 92 / 7739 | ||||
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(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
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(HPO:0000505) | Visual impairment | Very frequent [Orphanet] | 297 / 7739 | |||
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(HPO:0000501) | Glaucoma | 180 / 7739 | ||||
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(HPO:0007401) | Macular atrophy | 14 / 7739 | ||||
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(HPO:0000546) | Retinal degeneration | 61 / 7739 | ||||
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(HPO:0008028) | Cystoid macular degeneration | 3 / 7739 | ||||
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(HPO:0000512) | Abnormal electroretinogram | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0000545) | Myopia | Very frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0001146) | Pigmentary retinal degeneration | 15 / 7739 | ||||
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(HPO:0007756) | Slitlike anterior chamber angles in children | 1 / 7739 | ||||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Diffuse scleroidal thickening on eye ultrasound | 1 / 7739 | ||||
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(OMIM) | Progressive synechial angle closure | 1 / 7739 | ||||
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(OMIM) | Hyperlopia | 1 / 7739 | ||||
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(OMIM) | Macular atrophy | 5 / 7739 | ||||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 | |||
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(OMIM) | ERG shows absent rod signals, with normal cone wave form and near-normal b-wave amplitudes but markedly delayed cone b-wave implicit times, progressing to severely diminished or extinguished electroretinograms | 1 / 7739 | ||||
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(OMIM) | Visual field restriction | 2 / 7739 | ||||
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(OMIM) | Progressive pigmentary retinal degeneration | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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