Nephronophthisis 4

General Information (adopted from Orphanet):

Synonyms, Signs: NPHP4
Nephronophthisis 4, juvenile
Number of Symptoms 10
OrphanetNr:
OMIM Id: 606966
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, Adolescent
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:0001903) Anemia 10631142; 11920287 IBIS 289 / 7739
2
(HPO:0001959) Polydipsia 10631142; 11920287 IBIS 43 / 7739
3
(HPO:0010677) Enuresis nocturna 10631142 IBIS 7 / 7739
4
(HPO:0005583) Tubular basement membrane disintegration 19118152 IBIS 18 / 7739
5
(HPO:0001969) Tubulointerstitial abnormality 19118152; 10631142 IBIS 15 / 7739
6
(HPO:0005576) Tubulointerstitial fibrosis 10631142; 19066617 IBIS 32 / 7739
7
(HPO:0000108) Renal corticomedullary cysts 19118152; 10631142; 19066617 IBIS 21 / 7739
8
(HPO:0000090) Nephronophthisis 21068128; 27625867; 19118152; 10631142; 19066617 IBIS 42 / 7739
9
(HPO:0000103) Polyuria 10631142; 11920287 IBIS 60 / 7739
10
(HPO:0003774) Stage 5 chronic kidney disease 27625867; 19118152; 10631142; 11920287; 21068128; 19066617 IBIS 78 / 7739

Associated genes:

NPHP4;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Three loci had been mapped for nephronophthisis, the leading genetic cause of chronic renal failure in young adults: juvenile NPHP1 (256100) on 2q13; infantile nephronophthisis (NPHP2; 602088) on 9q22-q31; and adolescent nephronophthisis (NPHP3; 604387) on 3q21-q22. By renal ...
Molecular genetics OMIM To narrow the location of the NPHP4 gene, Mollet et al. (2002) carried out haplotype analysis of families with nephronophthisis that did not show linkage to NPHP1, NPHP2, or NPHP3, using markers covering the 1p36 region. This allowed ...