Nephronophthisis 1

General Information (adopted from Orphanet):

Synonyms, Signs: NPH1
NPHP1
Nephronophthisis, familial juvenile
Number of Symptoms 27
OrphanetNr:
OMIM Id: 256100
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
14211100 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

NPHP1 mutations account for about 25% of cases of nephronophthisis (NPHP). NPHP1 mutations may be associated with congenital oculomotor apraxia (OMA) type Cogan and Senior–Loken syndrome and also give rise to Joubert syndrome and related disorders (JSRD) phenotypes (PMID:19066617).

Symptom Information: Sort by abundance 

1
(HPO:0002027) Abdominal pain 21258817 IBIS 184 / 7739
2
(HPO:0002013) Vomiting 21258817; 14211100 IBIS 191 / 7739
3
(HPO:0000556) Retinal dystrophy 16782989 IBIS 65 / 7739
4
(HPO:0002094) Dyspnea 21258817 IBIS 132 / 7739
5
(HPO:0004322) Short stature 14211100 IBIS 1232 / 7739
6
(HPO:0001824) Weight loss 21258817 IBIS 42 / 7739
7
(HPO:0000969) Edema 21258817 IBIS 117 / 7739
8
(HPO:0000741) Apathy 14211100 IBIS 42 / 7739
9
(HPO:0000737) Irritability 14211100 IBIS 93 / 7739
10
(HPO:0001959) Polydipsia 16782989; 14211100; 21258817 IBIS 43 / 7739
11
(HPO:0000989) Pruritus 21258817 IBIS 111 / 7739
12
(HPO:0000805) Enuresis 14211100; 16782989 IBIS 11 / 7739
13
(HPO:0000017) Nocturia 14211100 IBIS 5 / 7739
14
(HPO:0100515) Pollakisuria 16782989 IBIS 12 / 7739
15
(HPO:0000091) Abnormality of the renal tubule 14211100 IBIS 15 / 7739
16
(HPO:0000092) Tubular atrophy 19066617 IBIS 28 / 7739
17
(HPO:0005583) Tubular basement membrane disintegration 19118152 IBIS 18 / 7739
18
(HPO:0001969) Tubulointerstitial abnormality 19118152; 19066617 IBIS 15 / 7739
19
(HPO:0005576) Tubulointerstitial fibrosis 19066617 IBIS 32 / 7739
20
(HPO:0000108) Renal corticomedullary cysts 19118152; 19066617 IBIS 21 / 7739
21
(HPO:0000090) Nephronophthisis 19066617; 21258817 IBIS 42 / 7739
22
(HPO:0005562) Multiple renal cysts 21258817 IBIS 16 / 7739
23
(HPO:0000089) Renal hypoplasia 14211100; 21258817 IBIS 78 / 7739
24
(HPO:0000103) Polyuria 14211100; 21258817; 16782989 IBIS 60 / 7739
25
(HPO:0003774) Stage 5 chronic kidney disease 27625867; 19118152; 19066617; 21258817 IBIS 78 / 7739
26
(HPO:0001510) Growth delay 14211100 IBIS 295 / 7739
27
(MedDRA:10006469) Bronchopneumonia 14211100 IBIS 2 / 7739

Associated genes:

NPHP1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. It is the most frequent genetic cause of renal failure in children. NPHP may be combined with extrarenal manifestations, such as ...
Clinical Description OMIM Like several other mendelizing disorders, this one was first described by Fanconi et al. (1951). In the various reports, anemia, polyuria, polydipsia, isosthenuria, and death in uremia have been features. Hypertension and proteinuria are conspicuous in their absence. ...
Molecular genetics OMIM Familial nephronophthisis that maps to chromosome 2q13 is associated with mutation in and/or deletion of the NPHP1 gene (see 607100.0001-607100.0005) (Saunier et al., 1997; Hildebrandt et al., 1997). For a complete discussion of the molecular genetics of nephronophthisis-1, ...