CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, SUSCEPTIBILITY TO

General Information (adopted from Orphanet):

Synonyms, Signs: RHDNS1
RENAL HYPODYSPLASIA, NONSYNDROMIC, 1
CAKUT
Number of Symptoms 8
OrphanetNr:
OMIM Id: 610805
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0000076) Vesicoureteral reflux 94 / 7739
2
(HPO:0000074) Ureteropelvic junction obstruction 15 / 7739
3
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
4
(OMIM) Renal hypodysplasia 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(HPO:0003577) Congenital onset 133 / 7739
7
(HPO:0003829) Incomplete penetrance 85 / 7739
8
(OMIM) Solitary kidney 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital anomalies of the kidney and urinary tract (CAKUT) is a disorder characterized by variable anatomic defects of the kidney (e.g., renal hypodysplasia, renal agenesis, solitary kidney) and ureter (e.g., ureteropelvic junction obstruction (UPJO), vesicoureteral reflex) (summary by ...
Clinical Description OMIM Sanna-Cherchi et al. (2007) studied 7 multiplex kindreds ascertained via an index case with a nonsyndromic solitary kidney or renal hypoplasia. Systemic ultrasonographic screening revealed that many family members harbored malformations such as solitary kidney, hypodysplasia, or ureteric ...
Molecular genetics OMIM In 7 affected members of a Sardinian family (K100) with congenital anomalies of the kidney and urinary tract, originally reported by Sanna-Cherchi et al. (2007), Sanna-Cherchi et al. (2013) identified a heterozygous splice site mutation in the DSTYK ...