Snowflake vitreoretinal degeneration
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Snowflake vitreoretinal degeneration | |
| fr | Dégénérescence vitréo-rétinienne en flocons de neige | |
| de | Vitreoretinale Schneeflocken-Degeneration | Schneeflocken-Vitreoretinopathie |
| es | Degeneración vitreorretiniana tipo copo de nieve | |
| it | Degenerazione vitreoretinica a fiocchi di neve | |
| nl | Vitreoretinale degeneratie, sneeuwvlokken-type | |
| pt | Degeneração vitreo-retiniana em floco de neve | |
| pl | Zwyrodnienie ciała szklistego i siatkówki typu "płatki śniegu | |
| cs | Vločkovitá vitreoretinální degenerace | |
| uk | Вітреоретинальна дегенерація за типом сніжинки | |
| zh | 雪花状玻璃体视网膜变性 | |
| tr | Kar tanesi vitreoretinal dejenerasyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193230 | E | validated | |
| ICD-10 | H35.5 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0008663 | E | validated | |
| MeSH | C536677 | E | validated | |
| UMLS | C1860405 | E | validated | |
| GARD | 9706 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:716441Rare isolated progressive vitreoretinopathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNJ13 | Disease-causing germline mutation(s) in | Assessed | HGNC:6259 | ENSG00000115474 | 603208 | 2q37.1 | potassium inwardly rectifying channel subfamily J member 13 | 18179896[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91496
- This record as JSON: /data/d/91496.json