Congenital cataract, Volkmann type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CTRCT8 CATARACT, CONGENITAL, VOLKMANN TYPE CCV |
| Number of Symptoms | 4 |
| OrphanetNr: | 98983 |
| OMIM Id: |
115665
|
| ICD-10: |
Q12.0 |
| UMLs: |
C1861833 |
| MeSH: |
C538285 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Non-syndromic congenital cataract
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000519) | Congenital cataract | 73 / 7739 | ||||
|
|
(HPO:0000529) | Progressive visual loss | 7607651 | IBIS | 54 / 7739 | ||
|
|
(HPO:0100018) | Nuclear cataract | 41/41 [HPO] | 7607651 | IBIS | 14 / 7739 | |
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
The Volkmann type of cataract has been variously described as progressive, central, or zonular, with opacities in the embryonic, fetal, and juvenile nucleus and around the anterior and posterior Y-suture. Expression is highly variable, ranging from hardly recognizable ... |
| Clinical Description OMIM |
In a large Danish kindred by the name of Volkmann, Lund et al. (1992) observed autosomal dominant congenital cataract with variable expressivity. A progressive visual loss appeared during the first decade of life, the majority at 3 to ... |