Macular corneal dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MACULAR CORNEAL DYSTROPHY, TYPE I MACULAR CORNEAL DYSTROPHY, TYPE II, INCLUDED CORNEAL DYSTROPHY, MACULAR TYPE GROENOUW TYPE II CORNEAL DYSTROPHY MCD MCDC1 Fehr corneal dystrophy Corneal dystrophy Groenouw type II |
| Number of Symptoms | 13 |
| OrphanetNr: | 98969 |
| OMIM Id: |
217800
|
| ICD-10: |
H18.5 |
| UMLs: |
C0024439 |
| MeSH: |
|
| MedDRA: |
10025406 |
| Snomed: |
60258001 |
Prevalence, inheritance and age of onset:
| Prevalence: | 1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Stromal corneal dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
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(HPO:0000495) | Recurrent corneal erosions | 20 / 7739 | ||||
|
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(HPO:0007856) | Punctate opacification of the cornea | 2 / 7739 | ||||
|
|
(HPO:0007754) | Macular dystrophy | 26 / 7739 | ||||
|
|
(HPO:0001131) | Corneal dystrophy | 56 / 7739 | ||||
|
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(HPO:0000613) | Photophobia | 158 / 7739 | ||||
|
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
|
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(HPO:0003621) | Juvenile onset | 105 / 7739 | ||||
|
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(OMIM) | Acid mucopolysaccharides demonstrable in corneal fibroblasts | 1 / 7739 | ||||
|
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(OMIM) | Corneal sensitivity reduced | 1 / 7739 | ||||
|
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(OMIM) | Foreign body sensations | 2 / 7739 | ||||
|
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(OMIM) | Minute, gray, punctate corneal opacities | 1 / 7739 | ||||
|
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(OMIM) | Painful attacks | 1 / 7739 | ||||
|
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|