FANCONI RENOTUBULAR SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: FRTS2
Number of Symptoms 25
OrphanetNr:
OMIM Id: 613388
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: No data available.

Comment:

The studies refer to two siblings, male and female, that has been visited as chidren and 20 years later (PMID:2842681, PMID:20335586). The authors identified a homozygous duplication (p.I154_V160dup) in SLC34A1 (FRTS2), encoding NaPi-IIa, as the cause of autosomal recessive Fanconi’s syndrome 2, associated with hypophosphatemic rickets and renal failure (PMID:20335586).

Symptom Information: Sort by abundance 

1
 (HPO:0002150) Hypercalciuria 2842681 IBIS 45 / 7739
2
 (HPO:0012213) Decreased glomerular filtration rate 20335586 IBIS 21 / 7739
3
 (HPO:0000093) Proteinuria 20335586 IBIS 169 / 7739
4
 (HPO:0000117) Renal phosphate wasting 20335586 IBIS 14 / 7739
5
 (HPO:0000114) Proximal tubulopathy 20335586 IBIS 18 / 7739
6
 (HPO:0000083) Renal insufficiency 25492894 IBIS 232 / 7739
7
 (HPO:0000124) Renal tubular dysfunction 20335586 IBIS 46 / 7739
8
 (HPO:0005574) Non-acidotic proximal tubulopathy 20335586 IBIS 2 / 7739
9
 (HPO:0003076) Glycosuria 20335586 IBIS 32 / 7739
10
 (HPO:0002909) Generalized aminoaciduria 20335586 IBIS 13 / 7739
11
 (HPO:0003152) Increased serum 1,25-dihydroxyvitamin D3 20335586 IBIS 7 / 7739
12
 (HPO:0002748) Rickets 20335586 IBIS 41 / 7739
13
 (HPO:0002980) Femoral bowing 20335586 IBIS 36 / 7739
14
 (HPO:0004349) Reduced bone mineral density 20335586 IBIS 165 / 7739
15
 (HPO:0000938) Osteopenia 20335586 IBIS 138 / 7739
16
 (HPO:0004322) Short stature 20335586 IBIS 1232 / 7739
17
 (HPO:0010639) Elevated alkaline phosphatase of bone origin 20335586 IBIS 3 / 7739
18
 (HPO:0002148) Hypophosphatemia 25492894 IBIS 43 / 7739
19
 (HPO:0001252) Muscular hypotonia 2842681 IBIS 990 / 7739
20
 (OMIM) Urinary excretion of low-molecular-weight proteins, mild 20335586 IBIS 1 / 7739
21
 (OMIM) Increased fractional excretion of uric acid 20335586 IBIS 1 / 7739
22
 (OMIM) Proximal tubulopathy, generalized 20335586 IBIS 1 / 7739
23
 (OMIM) Renal failure, mild to moderate 20335586 IBIS 1 / 7739
24
 (OMIM) 1,25-dihydroxyvitamin D was elevated in childhood but deficient in adulthood 2842681 IBIS 1 / 7739
25
 (OMIM) Rickets, severe 20335586 IBIS 1 / 7739

Associated genes:

SLC34A1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tieder et al. (1988) reported a 14-year-old boy and his 18-year-old sister from a consanguineous Arab family with renal Fanconi syndrome who had severe rickets and osteopenia, marked hypercalciuria without renal tubular acidosis, and, in contrast to previously ...
Molecular genetics OMIM In an affected brother and sister from a consanguineous Arab family with renal Fanconi syndrome mapping to chromosome 5q35.1-q35.3, originally reported by Tieder et al. (1988), Magen et al. (2010) analyzed the candidate gene SLC34A1 (182309) and identified ...