FRTS1
MCID: FNC026
MIFTS: 49

Fanconi Renotubular Syndrome 1 (FRTS1)

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

Aliases & Classifications for Fanconi Renotubular Syndrome 1

MalaCards integrated aliases for Fanconi Renotubular Syndrome 1:

Name: Fanconi Renotubular Syndrome 1 57 12 72 29 13 6 15
Adult Fanconi Syndrome 57 72 29 6 70
Fanconi Renotubular Syndrome 57 72 36
Fanconi Syndrome Without Cystinosis 57 72
Renal Fanconi Syndrome 57 72
Luder-Sheldon Syndrome 57 72
Frts1 57 72
Frts 57 72
Rfs 57 72
Fanconi Renotubular Syndrome; Frts 57
Renal Fanconi Syndrome; Rfs 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
progressive disorder
onset early in the first decade
later onset has been reported
some patients may require renal transplantation


HPO:

31
fanconi renotubular syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080757
OMIM® 57 134600
OMIM Phenotypic Series 57 PS134600
KEGG 36 H01198
MeSH 44 D005198
UMLS 70 C0341703

Summaries for Fanconi Renotubular Syndrome 1

OMIM® : 57 Fanconi renotubular syndrome is an autosomal dominant renal disorder resulting from 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, renal acidosis, and a tendency toward dehydration. 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. The disorder is progressive, and some patients will eventually develop renal insufficiency (summary by Lichter-Konecki et al., 2001). (134600) (Updated 20-May-2021)

MalaCards based summary : Fanconi Renotubular Syndrome 1, also known as adult fanconi syndrome, is related to fanconi syndrome and aminoaciduria. An important gene associated with Fanconi Renotubular Syndrome 1 is GATM (Glycine Amidinotransferase), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and liver, and related phenotypes are muscle weakness and short stature

Disease Ontology : 12 A Fanconi syndrome that has material basis in heterozygous mutation in the GATM gene on chromosome 15q21.

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.

UniProtKB/Swiss-Prot : 72 Fanconi renotubular syndrome 1: 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. FRTS1 inheritance is autosomal dominant.

Related Diseases for Fanconi Renotubular Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 fanconi syndrome 31.1 SLC34A1 RRM2B MYO5B GATM EHHADH
2 aminoaciduria 30.7 SLC34A1 EHHADH
3 diarrhea 2, with microvillus atrophy 29.7 RAB8A MYO5B
4 fanconi renotubular syndrome 2 11.9
5 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 11.8
6 fanconi renotubular syndrome 4 11.5
7 dent disease 1 11.3
8 cystinosis 11.3
9 lowe oculocerebrorenal syndrome 11.3
10 iminoglycinuria 11.2
11 fanconi renotubular syndrome 3 10.9
12 fanconi renotubular syndrome 5 10.9
13 proteinuria, chronic benign 10.4
14 hypophosphatemia 10.3
15 osteomalacia 10.3
16 renal tubular acidosis 10.2
17 metabolic acidosis 10.2
18 hepatitis b 10.1
19 chronic kidney disease 10.1
20 coloboma of macula 10.1
21 maturity-onset diabetes of the young, type 1 10.1
22 fanconi-bickel syndrome 10.1
23 hypophosphatemic rickets, x-linked recessive 10.1
24 maturity-onset diabetes of the young 10.1
25 rickets 10.1
26 hypospadias 10.1
27 nephrocalcinosis 10.1
28 hyperinsulinism 10.1
29 diabetes mellitus 10.1
30 cystitis 10.1
31 congenital diarrhea 10.0 RAB8A MYO5B
32 renal tubular acidosis, proximal 10.0
33 renal glucosuria 10.0
34 mycobacterium tuberculosis 1 10.0
35 autosomal recessive disease 10.0
36 interstitial nephritis 10.0
37 nephrolithiasis 10.0
38 tyrosinemia 10.0
39 hypoglycemia 10.0
40 hnf1b-related autosomal dominant tubulointerstitial kidney disease 10.0
41 bone disease 10.0
42 hyperparathyroidism 10.0
43 liver cirrhosis 10.0
44 pancreatic cancer 10.0
45 tricuspid valve stenosis 10.0 NKX2-5 HEY2
46 tricuspid atresia 9.9 NKX2-5 HEY2
47 saethre-chotzen syndrome 9.9
48 diabetes insipidus, nephrogenic, autosomal 9.9
49 hypercalciuria, absorptive, 2 9.9
50 osteoporosis 9.9

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 glycosuria 31 HP:0003076
12 acidosis 31 HP:0001941
13 lacticaciduria 31 HP:0003648

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
muscle weakness
muscle cramps

Genitourinary Kidneys:
renal tubular acidosis
proximal renal tubule defect
impaired glomerular filtration rate (gfr)
fibrosis seen on renal biopsy
progressive renal failure

Skeletal:
rickets (in some patients)
osteomalacia (in some patients)
osteopenia (in some patients)
bone pain (in some patients)

Laboratory Abnormalities:
proteinuria
hypophosphatemia
aminoaciduria
glucosuria
phosphaturia
more
Growth Height:
short stature (in some patients)

Clinical features from OMIM®:

134600 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Fanconi Renotubular Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 EHHADH GATM GJA1 NKX2-5 PAX2 RAB8A
2 growth/size/body region MP:0005378 10.02 EHHADH GATM GJA1 HEY2 MYO5B NKX2-5
3 homeostasis/metabolism MP:0005376 10 ADAM19 EHHADH GATM GJA1 HEY2 MYO5B
4 endocrine/exocrine gland MP:0005379 9.97 ADAM19 GATM GJA1 NKX2-5 PAX2 RAB8A
5 mortality/aging MP:0010768 9.93 ADAM19 EHHADH GATM GJA1 HEY2 MYO5B
6 digestive/alimentary MP:0005381 9.88 GATM MYO5B NKX2-5 RAB8A RRM2B SHH
7 muscle MP:0005369 9.61 ADAM19 EHHADH GATM GJA1 HEY2 NKX2-5
8 renal/urinary system MP:0005367 9.1 GATM PAX2 RAB8A RRM2B SHH SLC34A1

Drugs & Therapeutics for Fanconi Renotubular Syndrome 1

Drugs for Fanconi Renotubular Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved 1401-55-4
2
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
3
Cocaine Approved, Illicit 50-36-2 5760 446220
4
Oxymetazoline Approved, Investigational 1491-59-4 4636
5
Lidocaine Approved, Vet_approved 137-58-6 3676
6
Trichostatin A Experimental 58880-19-6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Connection Between Gait Variability Parameters and Balance Performance in Children With Physical Disability Completed NCT00338858
2 Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02837523
3 Cervicogenic Headache Among Subjects With Forward Head Posture: a Correlational Cross-sectional Study. Not yet recruiting NCT04722913
4 Gas Supply, Demand and Middle Ear Gas Balance -- Project 1, Specific Aim 4, Protocol 3 Terminated NCT01974726

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 Adult Fanconi Syndrome 29
2 Fanconi Renotubular Syndrome 1 29 GATM

Anatomical Context for Fanconi Renotubular Syndrome 1

MalaCards organs/tissues related to Fanconi Renotubular Syndrome 1:

40
Bone, Kidney, Liver, Heart

Publications for Fanconi Renotubular Syndrome 1

Articles related to Fanconi Renotubular Syndrome 1:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. 57 6
29654216 2018
2
The adult Fanconi syndrome. II. Review of eighteen cases. 61 57
13381735 1957
3
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B. 6
32827185 2020
4
Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3. 57
11090339 2001
5
Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects. 57
1627757 1992
6
Renal failure in adult onset hypophosphatemic osteomalacia with Fanconi syndrome: a family study and review of the literature. 57
1649711 1991
7
Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion. 57
2356624 1990
8
Two case studies from a family with primary Fanconi syndrome. 57
2919605 1989
9
A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life. 57
7032774 1981
10
The adult presenting idiopathic Fanconi syndrome. 57
6796773 1981
11
Spontaneous Fanconi syndrome in the dog. 57
619225 1978
12
Autosomal dominant Fanconi syndrome with early renal failure. 57
263440 1978
13
Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance. Possible relationship with diabetes mellitus. 57
948541 1976
14
Fanconi syndrome with hypouricemia in an adult: family study. 57
13867012 1961
15
A Familial Tubular Absorption Defect of Glucose and Amino Acids. 57
21032379 1961
16
Hereditary forms of rickets and osteomalacia. 57
13295329 1956
17
A familial tubular absorption defect of glucose and amino acids. 57
14377624 1955
18
The genetics of cystinuria. 57
24541401 1951
19
Bisphosphonate-Induced Deterioration of Osteomalacia in Undiagnosed Adult Fanconi Syndrome. 61
32803107 2020
20
Plasma cell morphology in multiple myeloma and related disorders. 61
25899140 2015
21
Osteomalacia due to adult Fanconi syndrome in multiple myeloma. 61
21281229 2011
22
[A case of IgA kappa light chain deposition disease and combined adult Fanconi syndrome with auer rod-like intracytoplasmic inclusions in plasma cells and proximal renal tubular cells]. 61
18094584 2007
23
Skeletal scintigraphy in acquired adult Fanconi syndrome. 61
11805488 2002
24
Is there any significance for intracellular crystals in plasma cells from patients with monoclonal gammopathies? 61
11722600 2001
25
[Intracytoplasmic crystals and Fanconi syndrome in a patient with IgA kappa myeloma]. 61
11464657 2001
26
Adult Fanconi syndrome secondary to light chain gammopathy. Clinicopathologic heterogeneity and unusual features in 11 patients. 61
10844934 2000
27
Crystal-storing histiocytosis: a disorder occurring in plasmacytic tumors expressing immunoglobulin kappa light chain. 61
10667422 1999
28
V-domain deposition of lambda Bence Jones protein in the renal tubular epithelial cells in a patient with the adult Fanconi syndrome with myeloma. 61
9686306 1998
29
Light-chain-induced renal tubular acidosis: effect of sodium bicarbonate on sodium-proton exchange. 61
7724027 1995
30
Adult Fanconi syndrome with proximal muscle weakness and hypophosphatemic osteomalacia: report of a case. 61
7858457 1994
31
Excretion of beta 2-glycoprotein I (apolipoprotein H) in renal tubular disease. 61
1703052 1991
32
Adult Fanconi syndrome and liver cirrhosis. 61
2134330 1990
33
Adult Fanconi syndrome secondary to kappa-light chain myeloma: improvement of tubular functions after treatment for myeloma. 61
2115147 1990
34
Adult Fanconi syndrome in primary amyloidosis with lambda light-chain proteinuria. 61
2509772 1989
35
Hypophosphatemic osteomalacia and adult Fanconi syndrome due to light-chain nephropathy. Another form of oncogenous osteomalacia. 61
3101497 1987
36
Adult Fanconi syndrome in kappa light chain myeloma. 61
3101650 1987
37
Tubular proteinuria in children without other defects of renal function. 61
4010847 1985
38
Adult Fanconi syndrome progressing to multiple myeloma. 61
6438183 1984
39
[A case of primary adult Fanconi syndrome with refractory anemia closely related to sideroblastic anemia]. 61
6491461 1984
40
[A case of IgG-Bence Jones protein kappa type multiple myeloma complicated by adult Fanconi syndrome and osteomalacia]. 61
6431148 1984
41
Nature of intracytoplasmic crystalline inclusions in myeloma cells (morphologic, cytochemical, ultrastructural, and immunofluorescent studies). 61
6192701 1983
42
Unique amino acid sequences of Bence Jones proteins in the urine of patients with adult Fanconi syndrome. 61
6804793 1982
43
[Adult Fanconi syndrome following the ingestion of degraded tetracycline. Presentation of a case]. 61
7255796 1981
44
Occurrence of adult Fanconi syndrome in benign monoclonal gammopathy. 61
7468311 1980
45
[Adult Fanconi syndrome during multiple myeloma]. 61
724448 1978
46
[A case of Bence Jones protein kappa type myeloma with adult Fanconi syndrome (author's transl)]. 61
100635 1978
47
Kappa light chain--myeloma associated with adult Fanconi syndrome: response of the nephropathy to treatment of myeloma. 61
96325 1978
48
A unique amino acid sequence of a k-chain obtained from a patient with adult Fanconi syndrome: a new subset sequence. 61
413788 1977
49
Neurogenic muscle atrophy and osteomalacia in adult Fanconi syndrome. 61
889295 1977
50
Hyperuricosuria in the Fanconi syndrome. 61
848505 1977

Variations for Fanconi Renotubular Syndrome 1

ClinVar genetic disease variations for Fanconi Renotubular Syndrome 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATM NM_001482.3(GATM):c.958C>T (p.Pro320Ser) SNV Pathogenic 917493 GRCh37: 15:45658264-45658264
GRCh38: 15:45366066-45366066
2 GATM NM_001482.3(GATM):c.1006A>G (p.Thr336Ala) SNV Pathogenic 917494 GRCh37: 15:45657031-45657031
GRCh38: 15:45364833-45364833
3 GATM NM_001482.3(GATM):c.1007C>T (p.Thr336Ile) SNV Pathogenic 917495 GRCh37: 15:45657030-45657030
GRCh38: 15:45364832-45364832
4 GATM NM_001482.3(GATM):c.1022C>T (p.Pro341Leu) SNV Pathogenic 917496 GRCh37: 15:45657015-45657015
GRCh38: 15:45364817-45364817
5 RRM2B NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp) SNV Likely pathogenic 977276 GRCh37: 8:103226285-103226285
GRCh38: 8:102214057-102214057
6 EHHADH NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs) Insertion Uncertain significance 548610 rs1553775828 GRCh37: 3:184910369-184910370
GRCh38: 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

Pathways related to Fanconi Renotubular Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.59 SHH PAX2 NKX2-5
2 11.05 SHH PAX2 NKX2-5 GJA1
3 10.79 SHH NKX2-5 HEY2

GO Terms for Fanconi Renotubular Syndrome 1

Cellular components related to Fanconi Renotubular Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.13 SLC34A1 SHH GJA1
2 protein-DNA complex GO:0032993 8.62 PAX2 NKX2-5

Biological processes related to Fanconi Renotubular Syndrome 1 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.93 SHH PAX2 NKX2-5 HEY2 GATM
2 positive regulation of gene expression GO:0010628 9.78 SHH HEY2 GJA1 ADAM19
3 kidney development GO:0001822 9.61 SLC34A1 SHH RRM2B
4 branching involved in ureteric bud morphogenesis GO:0001658 9.56 SHH PAX2
5 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.55 NKX2-5 HEY2
6 ventricular septum morphogenesis GO:0060412 9.52 NKX2-5 HEY2
7 cochlea development GO:0090102 9.51 PAX2 HEY2
8 aortic valve morphogenesis GO:0003180 9.49 NKX2-5 HEY2
9 thyroid gland development GO:0030878 9.46 SHH NKX2-5
10 atrial septum morphogenesis GO:0060413 9.4 NKX2-5 HEY2
11 metanephric collecting duct development GO:0072205 9.37 SHH PAX2
12 cellular response to parathyroid hormone stimulus GO:0071374 9.32 SLC34A1 GJA1
13 artery development GO:0060840 9.26 SHH HEY2
14 heart development GO:0007507 9.26 SHH NKX2-5 HEY2 GJA1
15 ventricular cardiac muscle cell development GO:0055015 9.16 NKX2-5 HEY2
16 vasculogenesis GO:0001570 8.8 SHH NKX2-5 HEY2

Molecular functions related to Fanconi Renotubular Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.44 SLC34A1 SHH RRM2B RAB8A PAX2 NKX2-5

Sources for Fanconi Renotubular Syndrome 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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