Autosomal dominant progressive nephropathy with hypertension

General Information (adopted from Orphanet):

Synonyms, Signs: RENAL FAILURE, ADULT-ONSET
NEPHROPATHY, FAMILIAL
NEPHRITIS, FAMILIAL, WITHOUT DEAFNESS OR OCULAR DEFECT
RFH1
AORF
Number of Symptoms 15
OrphanetNr: 88659
OMIM Id: 161900
ICD-10: I15.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hypertension
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency 232 / 7739
2
 (HPO:0000093) Proteinuria 169 / 7739
3
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
4
 (HPO:0000123) Nephritis 18 / 7739
5
 (HPO:0012622) Chronic kidney disease 32 / 7739
6
 (HPO:0002907) Microscopic hematuria 27 / 7739
7
 (HPO:0000822) Hypertension 224 / 7739
8
 (HPO:0003259) Elevated serum creatinine 31 / 7739
9
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
10
 (HPO:0003581) Adult onset 117 / 7739
11
 (OMIM) No complement deposition 1 / 7739
12
 (OMIM) Renal biopsy showed interstitial fibrosis 1 / 7739
13
 (HPO:0003676) Progressive disorder 148 / 7739
14
 (OMIM) No proteinuria 2 / 7739
15
 (OMIM) Some sclerotic glomeruli 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Richmond et al. (1981) reported an autosomal dominant nephropathy in which morphology was primarily interstitial, with secondary glomerular atrophy. Renal failure was documented in 5 females and 2 males. In addition, 2 males and 1 female were thought ...