FRTS2
MCID: FNC034
MIFTS: 33

Fanconi Renotubular Syndrome 2 (FRTS2)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Respiratory diseases

Aliases & Classifications for Fanconi Renotubular Syndrome 2

MalaCards integrated aliases for Fanconi Renotubular Syndrome 2:

Name: Fanconi Renotubular Syndrome 2 57 12 72 29 13 6 15 70
Frts2 57 72
Fanconi Renotubular Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
fanconi renotubular syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080758
OMIM® 57 613388
OMIM Phenotypic Series 57 PS134600
MeSH 44 D005198
MedGen 41 C3150652
UMLS 70 C3150652

Summaries for Fanconi Renotubular Syndrome 2

UniProtKB/Swiss-Prot : 72 Fanconi renotubular syndrome 2: A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS2 inheritance is autosomal recessive.

MalaCards based summary : Fanconi Renotubular Syndrome 2, also known as frts2, is related to hereditary hypophosphatemic rickets and nephrolithiasis/osteoporosis, hypophosphatemic, 1, and has symptoms including muscle weakness An important gene associated with Fanconi Renotubular Syndrome 2 is SLC34A1 (Solute Carrier Family 34 Member 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Parathyroid hormone synthesis, secretion and action. Affiliated tissues include bone, and related phenotypes are osteopenia and muscle weakness

Disease Ontology : 12 A Fanconi syndrome that has material basis in homozygous mutation in the SLC34A1 gene on chromosome 5q35.

More information from OMIM: 613388 PS134600

Related Diseases for Fanconi Renotubular Syndrome 2

Diseases in the Fanconi Renotubular Syndrome 1 family:

Fanconi Renotubular Syndrome 2 Fanconi Renotubular Syndrome 3
Fanconi Renotubular Syndrome 5 Fanconi Renotubular Syndrome 4

Diseases related to Fanconi Renotubular Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 10.0 SLC34A3 SLC34A1
2 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.0 SLC34A3 SLC34A1
3 pulmonary alveolar microlithiasis 10.0 SLC34A3 SLC34A1
4 dent disease 1 9.9 SLC34A3 SLC34A1
5 lesch-nyhan syndrome 9.9 SLC17A3 SLC17A1
6 hyperphosphatemia 9.8 SLC34A1 PHEX
7 hyperuricemia 9.8 SLC17A3 SLC17A1
8 dental abscess 9.7 SLC34A3 PHEX
9 enthesopathy 9.7 SLC34A3 PHEX
10 metaphyseal chondrodysplasia, jansen type 9.7 SLC34A3 PHEX
11 osteoglophonic dysplasia 9.7 SLC34A3 PHEX
12 autosomal recessive hypophosphatemic rickets 9.7 SLC34A3 PHEX
13 arterial calcification of infancy 9.7 SLC34A3 PHEX
14 gout 9.7 SLC17A3 SLC17A1
15 tumoral calcinosis, hyperphosphatemic, familial, 1 9.7 SLC34A3 PHEX
16 schimmelpenning-feuerstein-mims syndrome 9.6 SLC34A3 PHEX
17 hypophosphatemic rickets with hypercalciuria, hereditary 9.6 SLC34A3 SLC34A1 PHEX
18 rickets 9.6 SLC34A3 SLC34A1 PHEX
19 hypophosphatemic rickets, autosomal dominant 9.6 SLC34A3 SLC34A1 PHEX
20 phosphorus metabolism disease 9.6 SLC34A3 SLC34A1 PHEX
21 hypophosphatemic rickets, x-linked recessive 9.6 SLC34A3 SLC34A1 PHEX
22 mineral metabolism disease 9.6 SLC34A3 SLC34A1 PHEX
23 osteomalacia 9.6 SLC34A3 SLC34A1 PHEX
24 bone remodeling disease 9.6 SLC34A3 PHEX
25 hypophosphatemia 9.6 SLC34A3 SLC34A1 PHEX
26 nephrocalcinosis 9.6 SLC34A3 SLC34A1 PHEX
27 hypophosphatemic rickets, x-linked dominant 9.6 SLC34A3 SLC34A1 PHEX
28 fanconi syndrome 9.3 SLC34A3 SLC34A1 SLC17A1 PHEX

Graphical network of the top 20 diseases related to Fanconi Renotubular Syndrome 2:



Diseases related to Fanconi Renotubular Syndrome 2

Symptoms & Phenotypes for Fanconi Renotubular Syndrome 2

Human phenotypes related to Fanconi Renotubular Syndrome 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 HP:0000938
2 muscle weakness 31 HP:0001324
3 short stature 31 HP:0004322
4 hypophosphatemia 31 HP:0002148
5 renal insufficiency 31 HP:0000083
6 rickets 31 HP:0002748
7 hypercalciuria 31 HP:0002150
8 proximal tubulopathy 31 HP:0000114
9 glycosuria 31 HP:0003076
10 generalized aminoaciduria 31 HP:0002909
11 elevated alkaline phosphatase of bone origin 31 HP:0010639

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
osteopenia
rickets, severe

Growth Height:
short stature

Genitourinary Kidneys:
proximal tubulopathy, generalized
decreased renal tubular reabsorption of phosphate
renal failure, mild to moderate

Muscle Soft Tissue:
muscle weakness

Laboratory Abnormalities:
hypophosphatemia
glucosuria
increased serum alkaline phosphatase activity of skeletal origin
1,25-dihydroxyvitamin d was elevated in childhood but deficient in adulthood
hypercalciuria (in childhood)
more

Clinical features from OMIM®:

613388 (Updated 05-Apr-2021)

UMLS symptoms related to Fanconi Renotubular Syndrome 2:


muscle weakness

Drugs & Therapeutics for Fanconi Renotubular Syndrome 2

Search Clinical Trials , NIH Clinical Center for Fanconi Renotubular Syndrome 2

Genetic Tests for Fanconi Renotubular Syndrome 2

Genetic tests related to Fanconi Renotubular Syndrome 2:

# Genetic test Affiliating Genes
1 Fanconi Renotubular Syndrome 2 29 SLC34A1

Anatomical Context for Fanconi Renotubular Syndrome 2

MalaCards organs/tissues related to Fanconi Renotubular Syndrome 2:

40
Bone

Publications for Fanconi Renotubular Syndrome 2

Articles related to Fanconi Renotubular Syndrome 2:

# Title Authors PMID Year
1
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. 57 6
20335586 2010
2
Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome. 57 6
2842681 1988

Variations for Fanconi Renotubular Syndrome 2

ClinVar genetic disease variations for Fanconi Renotubular Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC34A1 NM_003052.5(SLC34A1):c.460_480dup (p.Ile154_Val160dup) Duplication Pathogenic 12933 rs1554095263 GRCh37: 5:176813493-176813494
GRCh38: 5:177386492-177386493
2 SLC34A1 NM_003052.5(SLC34A1):c.909G>C (p.Gln303His) SNV Uncertain significance 983516 GRCh37: 5:176815346-176815346
GRCh38: 5:177388345-177388345

Expression for Fanconi Renotubular Syndrome 2

Search GEO for disease gene expression data for Fanconi Renotubular Syndrome 2.

Pathways for Fanconi Renotubular Syndrome 2

GO Terms for Fanconi Renotubular Syndrome 2

Cellular components related to Fanconi Renotubular Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.56 SLC34A1 SLC17A3 SLC17A1 PHEX
2 apical plasma membrane GO:0016324 9.26 SLC34A3 SLC34A1 SLC17A3 SLC17A1
3 brush border GO:0005903 9.16 SLC34A3 SLC34A1
4 brush border membrane GO:0031526 8.8 SLC34A3 SLC34A1 SLC17A3

Biological processes related to Fanconi Renotubular Syndrome 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.81 SLC34A3 SLC34A1 SLC17A3 SLC17A1
2 anion transport GO:0006820 9.52 SLC17A3 SLC17A1
3 phosphate ion transmembrane transport GO:0035435 9.49 SLC34A1 SLC17A1
4 response to growth hormone GO:0060416 9.48 SLC34A1 PHEX
5 urate metabolic process GO:0046415 9.46 SLC17A3 SLC17A1
6 sodium ion transport GO:0006814 9.46 SLC34A3 SLC34A1 SLC17A3 SLC17A1
7 cellular response to parathyroid hormone stimulus GO:0071374 9.43 SLC34A1 PHEX
8 cellular phosphate ion homeostasis GO:0030643 9.4 SLC34A3 SLC34A1
9 urate transport GO:0015747 9.37 SLC17A3 SLC17A1
10 sialic acid transport GO:0015739 9.32 SLC17A3 SLC17A1
11 sodium-dependent phosphate transport GO:0044341 9.26 SLC34A3 SLC34A1
12 sodium ion transmembrane transport GO:0035725 9.26 SLC34A3 SLC34A1 SLC17A3 SLC17A1
13 phosphate ion transport GO:0006817 8.92 SLC34A3 SLC34A1 SLC17A3 SLC17A1

Molecular functions related to Fanconi Renotubular Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.26 SLC34A3 SLC34A1 SLC17A3 SLC17A1
2 sialic acid transmembrane transporter activity GO:0015136 9.16 SLC17A3 SLC17A1
3 sodium:phosphate symporter activity GO:0005436 8.92 SLC34A3 SLC34A1 SLC17A3 SLC17A1

Sources for Fanconi Renotubular Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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