Snowflake vitreoretinal degeneration

General Information (adopted from Orphanet):

Synonyms, Signs: SNOWFLAKE VITREORETINAL DEGENERATION
SVD
Number of Symptoms 6
OrphanetNr: 91496
OMIM Id: 193230
ICD-10: H35.5
UMLs: C1860405
MeSH: C536677
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 50 cases [Orphanet]
Inheritance: Autosomal dominant
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Vitreoretinal degeneration
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000518) Cataract 454 / 7739
2
(HPO:0000655) Vitreoretinal degeneration 8 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Fibrillar degeneration, gel liquefaction, and thickened cortical vitreous 1 / 7739
5
(OMIM) Very small, yellow-white retinal dots 1 / 7739
6
(OMIM) Occasional optically empty vitreous cavity 1 / 7739

Associated genes:

KCNJ13;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hirose et al. (1974) first described this disorder. Gheiler et al. (1982) observed it in 3 generations of an Algerian Jewish kindred, with several instances of male-to-male transmission. The characteristic that suggested the name was the presence of very ...
Molecular genetics OMIM Hejtmancik et al. (2008) sequenced 20 of the 59 genes within the critical linkage region defined by Jiao et al. (2004) on the long arm of chromosome 2 in affected members of the original family (Hirose et al., 1974) ...