Nephronophthisis 7

General Information (adopted from Orphanet):

Synonyms, Signs: NPHP7
Number of Symptoms 6
OrphanetNr:
OMIM Id: 611498
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
27625867 [IBIS]
Age of onset: Childhood
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:0000092) Tubular atrophy 17618285 IBIS 28 / 7739
2
 (HPO:0005583) Tubular basement membrane disintegration 19118152 IBIS 18 / 7739
3
 (HPO:0001969) Tubulointerstitial abnormality 19118152 IBIS 15 / 7739
4
 (HPO:0000108) Renal corticomedullary cysts 19118152 IBIS 21 / 7739
5
 (HPO:0000090) Nephronophthisis 17618285 IBIS 42 / 7739
6
 (HPO:0003774) Stage 5 chronic kidney disease 17618285; 27625867; 19118152 IBIS 78 / 7739

Associated genes:

GLIS2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Attanasio et al. (2007) reported a consanguineous Canadian Oji-Cree family in which 3 members had nephronophthisis. All developed end-stage kidney disease by age 8 years and underwent renal transplantation. Kidney histology of all 3 affected individuals was consistent ...
Molecular genetics OMIM In a Canadian Oji-Cree family with nephronophthisis, Attanasio et al. (2007) identified a homozygous mutation in the GLIS2 gene (608539.0001) that segregated with the disorder.