FRTS1
MCID: FNC026
MIFTS: 36

Fanconi Renotubular Syndrome 1 (FRTS1)

Categories: Bone diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Fanconi Renotubular Syndrome 1

MalaCards integrated aliases for Fanconi Renotubular Syndrome 1:

Name: Fanconi Renotubular Syndrome 1 56 29 13 6
Fanconi Renotubular Syndrome 56 36
Renal Fanconi Syndrome 56 29
Adult Fanconi Syndrome 56 71
Fanconi Syndrome Without Cystinosis 56
Fanconi Renotubular Syndrome; Frts 56
Renal Fanconi Syndrome; Rfs 56
Luder-Sheldon Syndrome 56
Frts1 56
Frts 56
Rfs 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
fanconi renotubular syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 134600
OMIM Phenotypic Series 56 PS134600
KEGG 36 H01198
MedGen 41 C4551503
UMLS 71 C0341703

Summaries for Fanconi Renotubular Syndrome 1

OMIM : 56 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 a tendency toward dehydration. Some will eventually develop renal insufficiency. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low-molecular-weight proteinuria (summary by Lichter-Konecki et al., 2001). (134600)

MalaCards based summary : Fanconi Renotubular Syndrome 1, also known as fanconi renotubular syndrome, is related to fanconi syndrome and fanconi renotubular syndrome 2. An important gene associated with Fanconi Renotubular Syndrome 1 is FRTS1 (Fanconi Renotubular Syndrome). Affiliated tissues include kidney, bone and heart, and related phenotypes are muscle weakness and short stature

KEGG : 36 Fanconi renotubular syndrome (FTS) is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to decreased solute and water reabsorption. Patients had a generalized proximal tubulopathy, renal phosphate wasting, bone mineral deficiency, and decreased glomerular filtration rates. It is reported that mutations in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, may cause this disease.

Related Diseases for Fanconi Renotubular Syndrome 1

Diseases in the Fanconi Renotubular Syndrome 1 family:

Fanconi Renotubular Syndrome 2 Fanconi Renotubular Syndrome 3

Diseases related to Fanconi Renotubular Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 380)
# Related Disease Score Top Affiliating Genes
1 fanconi syndrome 30.8 FRTS1 EHHADH
2 fanconi renotubular syndrome 2 12.8
3 fanconi renotubular syndrome 3 12.8
4 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 12.8
5 dent disease 1 11.8
6 juvenile rheumatoid arthritis 11.7
7 cystinosis 11.7
8 lowe oculocerebrorenal syndrome 11.7
9 rheumatic fever 11.6
10 fanconi-bickel syndrome 11.5
11 iminoglycinuria 11.5
12 rheumatoid factor-negative juvenile idiopathic arthritis 11.3
13 nephrocalcinosis 10.3
14 aminoaciduria 10.3
15 atrial fibrillation 10.3
16 severe acute respiratory syndrome 10.3
17 hypophosphatemia 10.3
18 triiodothyronine receptor auxiliary protein 10.3
19 encephalopathy 10.3
20 47,xyy 10.3
21 hepatocellular carcinoma 10.2
22 rheumatoid arthritis 10.2
23 osteomalacia 10.2
24 rickets 10.2
25 renal tubular acidosis 10.2
26 lymphoma 10.2
27 synovitis 10.1
28 metabolic acidosis 10.1
29 atherosclerosis susceptibility 10.1
30 ataxia and polyneuropathy, adult-onset 10.1
31 aceruloplasminemia 10.1
32 cholera 10.1
33 bacterial vaginosis 10.1
34 scrapie 10.1
35 prion disease 10.1
36 genetic prion diseases 10.1
37 posttransplant acute limbic encephalitis 10.1
38 bladder cancer 10.1
39 haemophilus influenzae 10.1
40 atrioventricular block 10.1
41 leukemia 10.1
42 fibromatosis 10.1
43 syncope 10.1
44 hepatitis b 10.1
45 chronic kidney disease 10.1
46 neurofibromatosis, type ii 10.0
47 autoimmune disease 10.0
48 renal cell carcinoma, nonpapillary 10.0
49 osteoid osteoma 10.0
50 helix syndrome 10.0

Graphical network of the top 20 diseases related to Fanconi Renotubular Syndrome 1:



Diseases related to Fanconi Renotubular Syndrome 1

Symptoms & Phenotypes for Fanconi Renotubular Syndrome 1

Human phenotypes related to Fanconi Renotubular Syndrome 1:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 short stature 31 HP:0004322
3 proteinuria 31 HP:0000093
4 renal tubular dysfunction 31 HP:0000124
5 hypophosphatemia 31 HP:0002148
6 hypokalemia 31 HP:0002900
7 aminoaciduria 31 HP:0003355
8 renal insufficiency 31 HP:0000083
9 rickets 31 HP:0002748
10 osteomalacia 31 HP:0002749
11 acidosis 31 HP:0001941
12 glycosuria 31 HP:0003076
13 lacticaciduria 31 HP:0003648

Symptoms via clinical synopsis from OMIM:

56
Growth:
short stature

Skel:
rickets
osteomalacia

G U:
renal failure
renal tubular defect

Lab:
proteinuria
hypophosphatemia
hypokalemia
aminoaciduria
glycosuria
more
Metabolic:
acidosis

Muscle:
adult onset muscle weakness

Clinical features from OMIM:

134600

Drugs & Therapeutics for Fanconi Renotubular Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cure Cystinosis International Registry Recruiting NCT01327807
2 Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02837523

Search NIH Clinical Center for Fanconi Renotubular Syndrome 1

Genetic Tests for Fanconi Renotubular Syndrome 1

Genetic tests related to Fanconi Renotubular Syndrome 1:

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

Anatomical Context for Fanconi Renotubular Syndrome 1

MalaCards organs/tissues related to Fanconi Renotubular Syndrome 1:

40
Kidney, Bone, Heart, Prostate, Liver, Breast, T Cells

Publications for Fanconi Renotubular Syndrome 1

Articles related to Fanconi Renotubular Syndrome 1:

(show top 50) (show all 236)
# Title Authors PMID Year
1
Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3. 61 56
11090339 2001
2
Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects. 56
1627757 1992
3
Two case studies from a family with primary Fanconi syndrome. 56
2919605 1989
4
A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life. 56
7032774 1981
5
The adult presenting idiopathic Fanconi syndrome. 56
6796773 1981
6
Spontaneous Fanconi syndrome in the dog. 56
619225 1978
7
Autosomal dominant Fanconi syndrome with early renal failure. 56
263440 1978
8
Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance. Possible relationship with diabetes mellitus. 56
948541 1976
9
Fanconi syndrome with hypouricemia in an adult: family study. 56
13867012 1961
10
A Familial Tubular Absorption Defect of Glucose and Amino Acids. 56
21032379 1961
11
Hereditary forms of rickets and osteomalacia. 56
13295329 1956
12
A familial tubular absorption defect of glucose and amino acids. 56
14377624 1955
13
The genetics of cystinuria. 56
24541401 1951
14
Mitochondrial DNA mutations in renal disease: an overview. 61
31925537 2020
15
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A. 61
31875549 2019
16
A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease. 61
31687264 2019
17
Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression. 61
31548351 2019
18
CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report. 61
31672123 2019
19
Management of bone disease in cystinosis: Statement from an international conference. 61
31177550 2019
20
Oh cystinosin: let me count the ways! 61
31331465 2019
21
Learning Physiology From Inherited Kidney Disorders. 61
31215303 2019
22
Potential use of stem cells as a therapy for cystinosis. 61
29789935 2019
23
Intrinsic Bone Defects in Cystinotic Mice. 61
30794806 2019
24
The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. 61
30413946 2019
25
Effects of long-term cysteamine treatment in patients with cystinosis. 61
29260317 2019
26
The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis. 61
31800572 2019
27
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. 61
30949462 2019
28
A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome. 61
31949432 2019
29
Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome. 61
29746006 2019
30
Adult Idiopathic Renal Fanconi Syndrome: A Case Report. 61
30899310 2018
31
Skeletal Consequences of Nephropathic Cystinosis. 61
29905968 2018
32
Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report. 61
30200082 2018
33
Osteomalacia, renal Fanconi syndrome, and bone tumor. 61
29614898 2018
34
[Cystinosis : Diagnosis, cystine-depleting therapy, and transition]. 61
29671012 2018
35
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. 61
29654216 2018
36
HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature. 61
30005691 2018
37
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. 61
29924459 2018
38
Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. 61
29116606 2018
39
Slow progression of renal failure in a child with infantile cystinosis. 61
29446030 2018
40
Renal Fanconi syndrome with meropenem-containing regimen in drug-resistant tuberculosis. 61
29567720 2018
41
Incidence of renal Fanconi syndrome in patients taking antiretroviral therapy including tenofovir disoproxil fumarate. 61
28764611 2018
42
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease. 61
29594088 2018
43
Renal Fanconi syndrome with meropenem/amoxicillin-clavulanate during treatment of extensively drug-resistant tuberculosis. 61
29284688 2017
44
Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease. 61
29029121 2017
45
[GENETIC DISORDERS OF RENAL PHOSPHATE HANDLING]. 61
29072386 2017
46
Nephrolithiasis and Osteomalacia associated with adefovir-induced Fanconi syndrome in a patient with hepatitis B. 61
28851305 2017
47
Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome. 61
28497274 2017
48
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. 61
28669993 2017
49
Fainting Fanconi syndrome clarified by proxy: a case report. 61
28693455 2017
50
The lipid 5-phoshatase SHIP2 controls renal brush border ultrastructure and function by regulating the activation of ERM proteins. 61
28302370 2017

Variations for Fanconi Renotubular Syndrome 1

ClinVar genetic disease variations for Fanconi Renotubular Syndrome 1:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EHHADH NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs)insertion Uncertain significance 548610 rs1553775828 3:184910369-184910370 3:185192581-185192582

Expression for Fanconi Renotubular Syndrome 1

Search GEO for disease gene expression data for Fanconi Renotubular Syndrome 1.

Pathways for Fanconi Renotubular Syndrome 1

GO Terms for Fanconi Renotubular Syndrome 1

Sources for Fanconi Renotubular Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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