POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 263100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000800) Cystic renal dysplasia 31 / 7739
2
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
3
 (HPO:0000518) Cataract 454 / 7739
4
 (HPO:0007875) Congenital blindness 9 / 7739
5
 (HPO:0007770) Hypoplasia of the retina 3 / 7739
6
 (HPO:0000618) Blindness 124 / 7739
7
 (HPO:0000556) Retinal dystrophy 65 / 7739
8
 (OMIM) Absent ciliary body 1 / 7739
9
 (OMIM) Complex ocular dysplasia 1 / 7739
10
 (OMIM) Atrophic kidneys 2 / 7739
11
 (OMIM) Persistent fetal iridocorneal angle 1 / 7739
12
 (OMIM) Central cataract 2 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Renal pyramidal cysts 1 / 7739
15
 (OMIM) Retinal aplasia 2 / 7739
16
 (OMIM) Microcoria 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: