Primary Fanconi syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Primary Fanconi renotubular syndrome
Number of Symptoms 32
OrphanetNr: 3337
OMIM Id: 134600
613388
ICD-10: E72.0
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: Genetic renal tubular disease
 -Rare genetic disease
Rare renal tubular disease
 -Rare renal disease

Comment:

Fanconi syndrome (FS) is a more generalized dysfunction of the proximal tubule, characterized by impaired reabsorption of bicarbonate, phosphate, aminoacids, glucose, and uric acid, and concomitant losses of sodium and potassium (PMID:15703948). It is an uncommon tubulopathy. Hypercalciuria is usually not a feature of Fanconi Syndrome. Most cases of Fanconi Syndrome have a low tubular reabsorption of phosphorous (TRP below 80-85%) (PMID:9357213). Primary Fanconi syndrome is caused by a missense mutation in Na phosphate cotransporter (NaPi-II) of the proximal tubular apical membrane (PMID:23235953). Primary Fanconi Syndrome currently remains a diagnosis of exclusion. The diagnosis can be easily missed unless appropriate investigations are undertaken in patients with failure to thrive and resistant rickets (PMID:9357213). Involved genes: SLC34A1 (PMID:23235953); EHHADH (Orphanet);

Symptom Information: Sort by abundance 

1
 (HPO:0003270) Abdominal distention 9357213 IBIS 46 / 7739
2
 (HPO:0003155) Elevated alkaline phosphatase 9357213 IBIS 52 / 7739
3
 (HPO:0011947) Respiratory tract infection 9357213 IBIS 28 / 7739
4
 (HPO:0001942) Metabolic acidosis 15703948 IBIS 81 / 7739
5
 (HPO:0002049) Proximal renal tubular acidosis 2919605 IBIS 8 / 7739
6
 (HPO:0001508) Failure to thrive 9357213 IBIS 454 / 7739
7
 (HPO:0002150) Hypercalciuria 6853042 IBIS 45 / 7739
8
 (HPO:0002901) Hypocalcemia 9357213 IBIS 56 / 7739
9
 (HPO:0002148) Hypophosphatemia Frequent [IBIS] 15703948 IBIS 43 / 7739
10
 (HPO:0008732) Renal hypophosphatemia 2919605 IBIS 2 / 7739
11
 (HPO:0003076) Glycosuria 2919605 IBIS 32 / 7739
12
 (HPO:0002909) Generalized aminoaciduria 2919605 IBIS 13 / 7739
13
 (HPO:0002900) Hypokalemia 2919605 IBIS 45 / 7739
14
 (HPO:0003537) Hypouricemia 2919605 IBIS 13 / 7739
15
 (HPO:0001270) Motor delay 9357213 IBIS 322 / 7739
16
 (HPO:0002540) Inability to walk 9357213 IBIS 19 / 7739
17
 (HPO:0012101) Decreased serum creatinine 9357213 IBIS 1 / 7739
18
 (HPO:0003149) Hyperuricosuria 9357213 IBIS 7 / 7739
19
 (HPO:0002748) Rickets Frequent [IBIS] 50% (n=6) 15703948 IBIS 41 / 7739
20
 (HPO:0002757) Recurrent fractures 2919605 IBIS 47 / 7739
21
 (HPO:0002240) Hepatomegaly 9357213 IBIS 467 / 7739
22
 (HPO:0000114) Proximal tubulopathy 15703948 IBIS 18 / 7739
23
 (HPO:0000092) Tubular atrophy 2919605 IBIS 28 / 7739
24
 (HPO:0000121) Nephrocalcinosis 2919605 IBIS 57 / 7739
25
 (HPO:0008672) Calcium oxalate nephrolithiasis 2919605 IBIS 10 / 7739
26
 (HPO:0000103) Polyuria 9357213 IBIS 60 / 7739
27
 (MedDRA:10038457) Renal glycosuria 2919605 IBIS 2 / 7739
28
 (HPO:0000083) Renal insufficiency 2919605 IBIS 232 / 7739
29
 (HPO:0000124) Renal tubular dysfunction 9357213 IBIS 46 / 7739
30
 (HPO:0000093) Proteinuria 9357213 IBIS 169 / 7739
31
 (HPO:0000117) Renal phosphate wasting 2919605 IBIS 14 / 7739
32
 (HPO:0001510) Growth delay Frequent [IBIS] 15703948 IBIS 295 / 7739

Associated genes:

SLC34A1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: