Autosomal recessive medullary cystic kidney disease

General Information (adopted from Orphanet):

Synonyms, Signs: Autosomal recessive nephronophthisis
Number of Symptoms 16
OrphanetNr: 655
OMIM Id: 256100
602088
604387
606966
611498
613159
613820
613824
614377
614817
615382
ICD-10: Q61.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial cystic renal disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
2
 (HPO:0000090) Nephronophthisis 42 / 7739
3
 (HPO:0005576) Tubulointerstitial fibrosis 32 / 7739
4
 (HPO:0000108) Renal corticomedullary cysts 21 / 7739
5
 (HPO:0003158) Hyposthenuria 6 / 7739
6
 (HPO:0000103) Polyuria 60 / 7739
7
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
8
 (HPO:0011037) Decreased urine output Frequent [Orphanet] 47 / 7739
9
 (HPO:0000092) Tubular atrophy 28 / 7739
10
 (HPO:0005583) Tubular basement membrane disintegration 18 / 7739
11
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
12
 (HPO:0001959) Polydipsia 43 / 7739
13
 (HPO:0001510) Growth delay 295 / 7739
14
 (HPO:0000822) Hypertension 224 / 7739
15
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: