RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO

General Information (adopted from Orphanet):

Synonyms, Signs: CYSRD
Number of Symptoms 12
OrphanetNr:
OMIM Id: 601331
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000110) Renal dysplasia 44 / 7739
2
(HPO:0004719) Hyperechogenic kidneys 10 / 7739
3
(HPO:0000800) Cystic renal dysplasia 31 / 7739
4
(HPO:0012211) Abnormal renal physiology 23 / 7739
5
(HPO:0000107) Renal cyst 126 / 7739
6
(HPO:0000083) Renal insufficiency 232 / 7739
7
(HPO:0000076) Vesicoureteral reflux rare [HPO:skoehler] 94 / 7739
8
(HPO:0000822) Hypertension 224 / 7739
9
(HPO:0002089) Pulmonary hypoplasia 80 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(HPO:0003577) Congenital onset 133 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sase et al. (1996) described a family in which 3 sibs, a male and 2 females, were affected with nonsyndromic diffuse cystic dysplasia of the kidneys. The parents were nonconsanguineous and had no renal abnormality. A possibly similar ...
Molecular genetics OMIM In 2 (2%) of 92 children with isolated renal abnormalities who were negative for mutations in the HNF1B gene (189907), Kraus et al. (2012) identified 2 different heterozygous loss-of-function or hypomorphic mutations in the BICC1 gene (614295.0001 and ...