Congenital hereditary endothelial dystrophy type I
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MAUMENEE CORNEAL DYSTROPHY CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY OF CORNEA CORNEAL DYSTROPHY, CONGENITAL HEREDITARY ENDOTHELIAL CHED1 CHEDI CHED Congenital hereditary endothelial dystrophy type 1 Autosomal dominant congenital hereditary endothelial dystrophy Autosomal dominant CHED |
| Number of Symptoms | 2 |
| OrphanetNr: | 98975 |
| OMIM Id: |
121700
|
| ICD-10: |
H18.5 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Posterior corneal dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
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(HPO:0008005) | Congenital corneal dystrophy | 4/11 [HPO:curators] | 15671264 | IBIS | 3 / 7739 | |
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. There are both autosomal dominant (CHED1) and autosomal recessive (CHED2; ... |
| Clinical Description OMIM |
Maumenee (1960) observed 6 known persons with corneal endothelial dystrophy in 3 generations of 1 family. Pearce et al. (1969) reported a family in which 39 persons in 5 generations had congenital endothelial corneal dystrophy. A ... |