Nephronophthisis 18

General Information (adopted from Orphanet):

Synonyms, Signs: NPHP18
Number of Symptoms 17
OrphanetNr:
OMIM Id: 615862
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 families - PMID: 24882706 [IBIS]
Inheritance: Autosomal recessive
- PMID: 27625867 [IBIS]
Age of onset: Childhood
- PMID: 19118152 [IBIS]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000546) Retinal degeneration 24882706 IBIS 61 / 7739
2
 (HPO:0000486) Strabismus rare [HPO:skoehler] 24882706 IBIS 576 / 7739
3
 (HPO:0000822) Hypertension 24882706 IBIS 224 / 7739
4
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 24882706 IBIS 1089 / 7739
5
 (HPO:0000750) Delayed speech and language development 24882706 IBIS 197 / 7739
6
 (HPO:0001396) Cholestasis rare [HPO:skoehler] 24882706 IBIS 136 / 7739
7
 (HPO:0006580) Portal fibrosis rare [HPO:skoehler] 24882706 IBIS 10 / 7739
8
 (HPO:0001999) Abnormal facial shape 24882706 IBIS 169 / 7739
9
 (HPO:0004722) Thickening of the glomerular basement membrane 24882706 IBIS 12 / 7739
10
 (HPO:0000092) Tubular atrophy 24882706 IBIS 28 / 7739
11
 (HPO:0005583) Tubular basement membrane disintegration 19118152 IBIS 18 / 7739
12
 (HPO:0001969) Tubulointerstitial abnormality 19118152; 24882706 IBIS 15 / 7739
13
 (HPO:0005576) Tubulointerstitial fibrosis 24882706 IBIS 32 / 7739
14
 (HPO:0000108) Renal corticomedullary cysts 19118152 IBIS 21 / 7739
15
 (HPO:0000090) Nephronophthisis 24882706 IBIS 42 / 7739
16
 (HPO:0003774) Stage 5 chronic kidney disease 27625867; 19118152; 24882706 IBIS 78 / 7739
17
 (HPO:0000238) Hydrocephalus rare [HPO:skoehler] 24882706 IBIS 278 / 7739

Associated genes:

CEP83;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: