Nephronophthisis 14

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS19, included
NPHP14 Joubert syndrome 19, included
Number of Symptoms 10
OrphanetNr:
OMIM Id: 614844
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases - PMID: 22863007 [IBIS]
Inheritance: Autosomal recessive
- PMID: 27625867 [IBIS]
Age of onset: Infancy, Childhood
- PMID: 22863007; 19118152 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Joubert syndrome with oculorenal defect
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000546) Retinal degeneration rare [HPO:skoehler] 22863007 IBIS 61 / 7739
2
 (HPO:0001696) Situs inversus totalis rare [HPO:skoehler] 22863007 IBIS 44 / 7739
3
 (HPO:0005583) Tubular basement membrane disintegration 19118152 IBIS 18 / 7739
4
 (HPO:0001969) Tubulointerstitial abnormality 19118152 IBIS 15 / 7739
5
 (HPO:0000108) Renal corticomedullary cysts 19118152 IBIS 21 / 7739
6
 (HPO:0000090) Nephronophthisis 22863007 IBIS 42 / 7739
7
 (HPO:0000113) Polycystic kidney dysplasia 22863007 IBIS 75 / 7739
8
 (HPO:0003774) Stage 5 chronic kidney disease 27625867; 19118152 IBIS 78 / 7739
9
 (HPO:0001320) Cerebellar vermis hypoplasia 22863007 IBIS 57 / 7739
10
 (MedDRA:10070667) Leber's congenital amaurosis 22863007 IBIS 4 / 7739

Associated genes:

ZNF423;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Chaki et al. (2012) reported 2 Turkish sibs, born of consanguineous parents, with infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Chaki et al. (2012) also reported 2 unrelated patients with Joubert syndrome. One patient had cerebellar ...
Molecular genetics OMIM By homozygosity mapping and whole-exome sequencing of 2 Turkish sibs with nephronophthisis, Chaki et al. (2012) identified a homozygous mutation in the ZNF423 gene (P913L; 604557.0001). The mutation was predicted to result in a loss of function. Two ...