Corneal dystrophy - perceptive deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CORNEAL DYSTROPHY AND SENSORINEURAL DEAFNESS CDPD CDPD1 harboyan syndrome Corneal dystrophy with progressive deafness |
| Number of Symptoms | 10 |
| OrphanetNr: | 1490 |
| OMIM Id: |
217400
|
| ICD-10: |
H18.5 |
| UMLs: |
C1857572 |
| MeSH: |
C535473 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 10 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndromic corneal dystrophy
-Rare eye disease -Rare genetic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0007759) | Opacification of the corneal stroma | 77 / 7739 | ||||
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(HPO:0001131) | Corneal dystrophy | Very frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0007957) | Corneal opacity | 84 / 7739 | ||||
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(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Very frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Hearing loss, perceptive | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Harboyan et al. (1971) described 3 sibs from a consanguineous mating with late-onset sensorineural deafness and corneal clouding similar to that of congenital hereditary corneal endothelial dystrophy (217700). Whereas corneal opacities were present at birth, hearing loss began ... |
| Molecular genetics OMIM | In 3 consanguineous and 3 nonconsanguineous families with CDPD, Desir et al. (2007) identified homozygosity or compound heterozygosity, respectively, for mutations in the SLC4A11 gene (see 610206.0009-610206.0016). |