HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3

General Information (adopted from Orphanet):

Synonyms, Signs: HNFJ3
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614227
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001970) Tubulointerstitial nephritis 27 / 7739
2
 (HPO:0000112) Nephropathy 92 / 7739
3
 (HPO:0000083) Renal insufficiency 232 / 7739
4
 (OMIM) Defective urinary concentrating ability 1 / 7739
5
 (OMIM) Elevated serum uric acid concentrations 1 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Piret et al. (2011) analyzed function and expression patterns of 28 genes contained in the HNFJ3 interval on chromosome 2p22.1-p21; sequence analysis of the most likely candidate, SLC8A1 (182305), in probands from 5 families with HNFJ mapping to ...