Nephronophthisis 3

General Information (adopted from Orphanet):

Synonyms, Signs: NPHP3
NPH3
Number of Symptoms 37
OrphanetNr:
OMIM Id: 604387
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
27625867 [IBIS]
Age of onset: Neonatal, Infancy, Childhood, Adolescent
27625867; 19303681 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Mutations in NPHP3 can produce diverse phenotypes. Mutations were originally identified in a large Venezuelan kindred who exhibited nephronophthisis (NPHP). Mutations in NPHP3 were associated with hepatic fibrosis and retinal degeneration in some affected individuals. Recently the phenotype of NPHP3 mutations has been expanded to include Meckel-Gruber like syndrome (PMID:19066617).

Symptom Information: Sort by abundance 

1
(HPO:0000510) Rod-cone dystrophy 19177160 IBIS 266 / 7739
2
(HPO:0000546) Retinal degeneration 19066617 IBIS 61 / 7739
3
(HPO:0002089) Pulmonary hypoplasia 19303681 IBIS 80 / 7739
4
(HPO:0002098) Respiratory distress 19303681 IBIS 75 / 7739
5
(HPO:0002837) Recurrent bronchitis 19177160 IBIS 21 / 7739
6
(HPO:0006549) Unilateral primary pulmonary dysgenesis 19303681 IBIS 2 / 7739
7
(HPO:0001696) Situs inversus totalis 19303681 IBIS 44 / 7739
8
(HPO:0001508) Failure to thrive 19177160 IBIS 454 / 7739
9
(HPO:0001712) Left ventricular hypertrophy 19303681 IBIS 76 / 7739
10
(HPO:0001671) Abnormality of the cardiac septa 19303681 IBIS 55 / 7739
11
(HPO:0001654) Abnormality of the heart valves 19177160 IBIS 49 / 7739
12
(HPO:0004760) Congenital septal defect 19177160 IBIS 69 / 7739
13
(HPO:0001643) Patent ductus arteriosus 19303681 IBIS 228 / 7739
14
(HPO:0000822) Hypertension 19177160; 19303681 IBIS 224 / 7739
15
(HPO:0001903) Anemia 19177160 IBIS 289 / 7739
16
(HPO:0001959) Polydipsia 19177160 IBIS 43 / 7739
17
(HPO:0001562) Oligohydramnios 19303681 IBIS 75 / 7739
18
(HPO:0002414) Spina bifida 19303681 IBIS 47 / 7739
19
(HPO:0010579) Cone-shaped epiphysis 19177160 IBIS 54 / 7739
20
(HPO:0001392) Abnormality of the liver 19177160 IBIS 28 / 7739
21
(HPO:0002910) Elevated hepatic transaminases 19177160 IBIS 158 / 7739
22
(HPO:0001395) Hepatic fibrosis 19066617; 19177160 IBIS 67 / 7739
23
(HPO:0000369) Low-set ears 19303681 IBIS 372 / 7739
24
(HPO:0000014) Abnormality of the bladder 19303681 IBIS 3 / 7739
25
(HPO:0004722) Thickening of the glomerular basement membrane 19177160 IBIS 12 / 7739
26
(HPO:0000092) Tubular atrophy 19066617 IBIS 28 / 7739
27
(HPO:0005583) Tubular basement membrane disintegration 19118152 IBIS 18 / 7739
28
(HPO:0001969) Tubulointerstitial abnormality 19118152; 19177160 IBIS 15 / 7739
29
(HPO:0005576) Tubulointerstitial fibrosis 19066617 IBIS 32 / 7739
30
(HPO:0000108) Renal corticomedullary cysts 19118152; 19066617 IBIS 21 / 7739
31
(HPO:0000090) Nephronophthisis 19066617; 19303681 IBIS 42 / 7739
32
(HPO:0000105) Enlarged kidneys 19177160; 19303681 IBIS 30 / 7739
33
(HPO:0004719) Hyperechogenic kidneys 19177160 IBIS 10 / 7739
34
(HPO:0005562) Multiple renal cysts 19177160; 19303681 IBIS 16 / 7739
35
(HPO:0000089) Renal hypoplasia 19177160; 19303681 IBIS 78 / 7739
36
(HPO:0000103) Polyuria 19177160 IBIS 60 / 7739
37
(HPO:0003774) Stage 5 chronic kidney disease 27625867; 19118152; 19066617; 19177160 IBIS 78 / 7739

Associated genes:

NPHP3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nephronophthisis, an autosomal recessive cystic kidney disease, is the most frequent monogenic cause of renal failure in childhood. Omran et al. (2000) described a form of this disorder, adolescent nephronophthisis, that they considered clearly distinct by clinical and ...
Molecular genetics OMIM Olbrich et al. (2003) reported the identification of a novel gene, NPHP3, encoding a 1,330-amino acid protein that interacts with nephrocystin-1 (607100), the protein that is mutant in nephronophthisis-1 (NPHP1; 256100). They described mutations in the NPHP3 gene ...