Nephronophthisis 2

General Information (adopted from Orphanet):

Synonyms, Signs: NPHP2
NPH2
Number of Symptoms 38
OrphanetNr:
OMIM Id: 602088
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
27625867 [IBIS]
Age of onset: Infancy
27625867 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Mutations in INVS/NPHP2 give rise to infantile NPHP. These mutations are rare and account for less than 1% of all cases of nephronophthisis (NPHP) worldwide (PMID:19066617).

Symptom Information: Sort by abundance 

1
(HPO:0002018) Nausea 2884728 IBIS 44 / 7739
2
(HPO:0000510) Rod-cone dystrophy 16522655 IBIS 266 / 7739
3
(HPO:0002837) Recurrent bronchitis 19177160 IBIS 21 / 7739
4
(HPO:0001696) Situs inversus totalis rare [HPO:skoehler] 19177160; 12872123; 18218308; 2884728 IBIS 44 / 7739
5
(HPO:0005976) Hyperkalemic metabolic acidosis 9792867 IBIS 1 / 7739
6
(HPO:0004322) Short stature 16522655 IBIS 1232 / 7739
7
(HPO:0001508) Failure to thrive 19177160 IBIS 454 / 7739
8
(HPO:0001629) Ventricular septal defect 12872123 IBIS 316 / 7739
9
(HPO:0001653) Mitral regurgitation 19177160 IBIS 64 / 7739
10
(HPO:0001654) Abnormality of the heart valves 19177160 IBIS 49 / 7739
11
(HPO:0004760) Congenital septal defect 19177160 IBIS 69 / 7739
12
(HPO:0000822) Hypertension 19177160; 9792867; 12872123 IBIS 224 / 7739
13
(HPO:0001903) Anemia 16522655; 9792867; 19177160 IBIS 289 / 7739
14
(HPO:0001263) Global developmental delay 19177160 IBIS 853 / 7739
15
(HPO:0001959) Polydipsia 19177160 IBIS 43 / 7739
16
(HPO:0002315) Headache 2884728 IBIS 175 / 7739
17
(HPO:0003259) Elevated serum creatinine 9792867 IBIS 31 / 7739
18
(HPO:0001562) Oligohydramnios 9792867 IBIS 75 / 7739
19
(HPO:0001806) Onycholysis 19177160 IBIS 20 / 7739
20
(HPO:0001392) Abnormality of the liver 19177160 IBIS 28 / 7739
21
(HPO:0000092) Tubular atrophy 19066617 IBIS 28 / 7739
22
(HPO:0005583) Tubular basement membrane disintegration 19118152 IBIS 18 / 7739
23
(HPO:0001969) Tubulointerstitial abnormality 19118152; 19177160 IBIS 15 / 7739
24
(HPO:0005576) Tubulointerstitial fibrosis 19066617; 19177160 IBIS 32 / 7739
25
(HPO:0001970) Tubulointerstitial nephritis 2884728 IBIS 27 / 7739
26
(HPO:0004743) Chronic tubulointerstitial nephritis 9792867 IBIS 2 / 7739
27
(HPO:0005564) Absence of renal corticomedullary differentiation 9792867 IBIS 2 / 7739
28
(HPO:0004734) Renal cortical microcysts 19177160 IBIS 10 / 7739
29
(HPO:0000108) Renal corticomedullary cysts 19118152; 19066617 IBIS 21 / 7739
30
(HPO:0000090) Nephronophthisis 19066617; 16522655; 18218308 IBIS 42 / 7739
31
(HPO:0000105) Enlarged kidneys 16522655; 19177160 IBIS 30 / 7739
32
(HPO:0004719) Hyperechogenic kidneys 9792867; 19177160 IBIS 10 / 7739
33
(HPO:0005562) Multiple renal cysts 9792867; 19177160; 12872123; 2884728 IBIS 16 / 7739
34
(HPO:0000089) Renal hypoplasia 19177160; 2884728 IBIS 78 / 7739
35
(HPO:0000103) Polyuria 19177160 IBIS 60 / 7739
36
(HPO:0003774) Stage 5 chronic kidney disease Very frequent [IBIS] 27625867; 19118152; 19066617; 16522655; 9792867; 19177160; 12872123; 2884728 IBIS 78 / 7739
37
(HPO:0001272) Cerebellar atrophy 19177160 IBIS 197 / 7739
38
(HPO:0002878) Respiratory failure 9792867 IBIS 57 / 7739

Associated genes:

INVS;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gagnadoux et al. (1989) described observations taken over a 15-year period in 7 children (4 girls, 3 boys) presented within the first months of life with severe renal failure and acidosis, associated with hypertension in 5 patients and ...
Molecular genetics OMIM Otto et al. (2003) identified inversin (INVS; 243305) as the gene mutated in NPHP2 with and without situs inversus. They showed molecular interaction of inversin with nephrocystin (256100), the product of the gene mutated in NPHP1, and interaction ...