Nephronophthisis 13

General Information (adopted from Orphanet):

Synonyms, Signs: NPHP13
Number of Symptoms 9
OrphanetNr:
OMIM Id: 614377
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family - PMID: 22019273 [IBIS]
Inheritance: Autosomal recessive
- PMID: 27625867 [IBIS]
Age of onset: Childhood
- PMID: 19118152 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive medullary cystic kidney disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0000091) Abnormality of the renal tubule 22019273 IBIS 15 / 7739
2
(HPO:0005583) Tubular basement membrane disintegration 19118152 IBIS 18 / 7739
3
(HPO:0001969) Tubulointerstitial abnormality 19118152 IBIS 15 / 7739
4
(HPO:0005576) Tubulointerstitial fibrosis 22019273 IBIS 32 / 7739
5
(HPO:0000108) Renal corticomedullary cysts 19118152 IBIS 21 / 7739
6
(HPO:0000090) Nephronophthisis 22019273 IBIS 42 / 7739
7
(HPO:0000089) Renal hypoplasia 22019273 IBIS 78 / 7739
8
(HPO:0003774) Stage 5 chronic kidney disease 27625867; 19118152; 22019273 IBIS 78 / 7739
9
(HPO:0012595) Mild proteinuria rare [HPO:skoehler] 22019273 IBIS 1 / 7739

Associated genes:

WDR19;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bredrup et al. (2011) studied a nonconsanguineous Moroccan family in which 3 of 6 sibs had nephronophthisis, 1 had mild proteinuria and a glomerular filtration rate at the lower limit of normal, and 2 sibs were unaffected. The ...
Molecular genetics OMIM Bredrup et al. (2011) performed haplotype analysis in a nonconsanguineous Moroccan family with nephronophthisis and found that the affected sibs shared 11 chromosomal regions, none of which encompassed known NPHP loci. Exome sequencing in 1 of the affected ...