Fanconi renotubular syndrome 1

General Information (adopted from Orphanet):

Synonyms, Signs: FRTS1
FRTS
RFS
Adult Fanconi syndrome
renal Fanconi syndrome
Fanconi syndrome without cystinosis Luder-Sheldon syndrome, included
Fanconi renotubular syndrome
Number of Symptoms 16
OrphanetNr:
OMIM Id: 134600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Primary Fanconi syndrome
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0003355) Aminoaciduria 25492894 IBIS 65 / 7739
2
 (HPO:0003076) Glycosuria 25492894 IBIS 32 / 7739
3
 (HPO:0000124) Renal tubular dysfunction 25492894 IBIS 46 / 7739
4
 (HPO:0000103) Polyuria 11090339 IBIS 60 / 7739
5
 (HPO:0000083) Renal insufficiency 25492894 IBIS 232 / 7739
6
 (HPO:0003648) Lacticaciduria 6796773 IBIS 6 / 7739
7
 (HPO:0000093) Proteinuria 25492894 IBIS 169 / 7739
8
 (HPO:0011038) Abnormality of renal resorption 25492894 IBIS 6 / 7739
9
 (HPO:0001959) Polydipsia 11090339 IBIS 43 / 7739
10
 (HPO:0002748) Rickets 25492894 IBIS 41 / 7739
11
 (HPO:0002749) Osteomalacia 11090339 IBIS 24 / 7739
12
 (HPO:0001944) Dehydration 11090339 IBIS 59 / 7739
13
 (HPO:0001941) Acidosis 11090339 IBIS 9 / 7739
14
 (HPO:0002148) Hypophosphatemia 11090339 IBIS 43 / 7739
15
 (HPO:0002900) Hypokalemia 25954677 IBIS 45 / 7739
16
 (HPO:0001324) Muscle weakness 20622306 IBIS 859 / 7739

Associated genes:

FRTS1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fanconi renotubular syndrome is a consequence of decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis, and ...
Clinical Description OMIM Ben-Ishay et al. (1961) and Hunt et al. (1966) reported pedigrees consistent with autosomal dominant inheritance of the Fanconi renotubular syndrome. In the family of Hunt et al. (1966), a mother and son had retarded growth, rickets, hypophosphatemia, ...