Nephronophthisis 9

General Information (adopted from Orphanet):

Synonyms, Signs: NPHP9
Number of Symptoms 37
OrphanetNr:
OMIM Id: 613824
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 families - PMID: 26697755 [IBIS]
Inheritance: Autosomal recessive
- PMID: 27625867 [IBIS]
Age of onset: Antenatal, Neonatal, Infancy, Childhood
- PMID: 23418306; 26697755; 19118152 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Genetic and functional data support the assumption that mutations in NEK8 cause nephronophthisis (NPHP9), adding another link between proteins mutated in cystic kidney disease and their localization to cilia and centrosomes (PMID:18199800).

Symptom Information: Sort by abundance 

1
 (HPO:0002098) Respiratory distress 26697755 IBIS 75 / 7739
2
 (HPO:0001696) Situs inversus totalis 26967905 IBIS 44 / 7739
3
 (HPO:0001903) Anemia 18199800 IBIS 289 / 7739
4
 (HPO:0001959) Polydipsia 18199800 IBIS 43 / 7739
5
 (HPO:0002823) Abnormality of the femur 26967905 IBIS 61 / 7739
6
 (HPO:0000774) Narrow chest 26967905 IBIS 167 / 7739
7
 (HPO:0001274) Agenesis of corpus callosum 26967905 IBIS 142 / 7739
8
 (HPO:0002244) Abnormality of the small intestine 26697755 IBIS 12 / 7739
9
 (HPO:0001392) Abnormality of the liver 23418306 IBIS 28 / 7739
10
 (HPO:0001080) Biliary tract abnormality 26967905 IBIS 26 / 7739
11
 (HPO:0001396) Cholestasis 26697755 IBIS 136 / 7739
12
 (HPO:0002240) Hepatomegaly 26697755 IBIS 467 / 7739
13
 (HPO:0001732) Abnormality of the pancreas 26967905; 23418306 IBIS 5 / 7739
14
 (HPO:0001627) Abnormal heart morphology 23418306 IBIS 19 / 7739
15
 (HPO:0001640) Cardiomegaly 26967905 IBIS 81 / 7739
16
 (HPO:0001655) Patent foramen ovale 26697755 IBIS 31 / 7739
17
 (HPO:0200128) Biventricular hypertrophy 26697755 IBIS 11 / 7739
18
 (HPO:0011662) Tricuspid atresia 26697755 IBIS 4 / 7739
19
 (HPO:0001650) Aortic valve stenosis 26697755 IBIS 49 / 7739
20
 (HPO:0001643) Patent ductus arteriosus 26697755 IBIS 228 / 7739
21
 (HPO:0004935) Pulmonary artery atresia 26697755 IBIS 12 / 7739
22
 (HPO:0001642) Pulmonic stenosis 26697755 IBIS 89 / 7739
23
 (HPO:0001669) Transposition of the great arteries 26697755 IBIS 36 / 7739
24
 (HPO:0000077) Abnormality of the kidney 26697755 IBIS 73 / 7739
25
 (HPO:0005583) Tubular basement membrane disintegration 19118152 IBIS 18 / 7739
26
 (HPO:0001969) Tubulointerstitial abnormality 19118152 IBIS 15 / 7739
27
 (HPO:0005576) Tubulointerstitial fibrosis 26697755 IBIS 32 / 7739
28
 (HPO:0000108) Renal corticomedullary cysts 19118152 IBIS 21 / 7739
29
 (HPO:0000090) Nephronophthisis 18199800 IBIS 42 / 7739
30
 (HPO:0000105) Enlarged kidneys 26697755; 23418306 IBIS 30 / 7739
31
 (HPO:0000107) Renal cyst 26967905 IBIS 126 / 7739
32
 (HPO:0005562) Multiple renal cysts 26697755; 23418306 IBIS 16 / 7739
33
 (HPO:0000103) Polyuria 18199800 IBIS 60 / 7739
34
 (HPO:0003774) Stage 5 chronic kidney disease 27625867; 19118152; 18199800 IBIS 78 / 7739
35
 (HPO:0001510) Growth delay 18199800 IBIS 295 / 7739
36
 (HPO:0002904) Hyperbilirubinemia 26697755 IBIS 32 / 7739
37
 (HPO:0002335) Agenesis of cerebellar vermis 26967905 IBIS 25 / 7739

Associated genes:

NEK8;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Nephronophthisis (NPHP) is an autosomal recessive kidney disease that leads to kidney cyst formation and progressive renal failure. NPHP is the most frequent genetic cause of end-stage renal failure in the first 3 decades of life (summary by ...
Clinical Description OMIM Otto et al. (2008) reported a Kurdish patient, born of consanguineous parents, with nephronophthisis. The patient had end-stage renal failure at age 3 years with microcysts on renal biopsy. There was no ocular involvement.
Molecular genetics OMIM In 1 of 188 patients with nephronophthisis, Otto et al. (2008) identified a homozygous mutation in the NEK8 gene (609799.0001). NEK8 mutations were not identified in 400 additional patients with NPHP, indicating that NEK8 mutations are a very ...