FRTS1
MCID: FNC026
MIFTS: 32

Fanconi Renotubular Syndrome 1 (FRTS1)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Fanconi Renotubular Syndrome 1

MalaCards integrated aliases for Fanconi Renotubular Syndrome 1:

Name: Fanconi Renotubular Syndrome 1 58 13 6
Fanconi Renotubular Syndrome 58 38
Renal Fanconi Syndrome 58 30
Adult Fanconi Syndrome 58 74
Fanconi Syndrome Without Cystinosis 58
Fanconi Renotubular Syndrome; Frts 58
Renal Fanconi Syndrome; Rfs 58
Luder-Sheldon Syndrome 58
Frts1 58
Frts 58
Rfs 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
fanconi renotubular syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fanconi Renotubular Syndrome 1

OMIM : 58 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 renotubular syndrome 2 and fanconi renotubular syndrome 3. An important gene associated with Fanconi Renotubular Syndrome 1 is FRTS1 (Fanconi Renotubular Syndrome). Affiliated tissues include kidney, prostate and t cells, and related phenotypes are muscle weakness and short stature

CDC : 3 NIOSH research on protecting workers from proven and possible EMF health risks focuses on:

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 174)
# Related Disease Score Top Affiliating Genes
1 fanconi renotubular syndrome 2 12.7
2 fanconi renotubular syndrome 3 12.7
3 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 12.7
4 rheumatic fever 11.5
5 primary fanconi syndrome 11.5
6 fanconi-bickel syndrome 11.4
7 iminoglycinuria 11.3
8 dent disease 1 11.3
9 negative rheumatoid factor polyarthritis 11.1
10 fanconi syndrome 10.7
11 rheumatoid arthritis 10.5
12 arthritis 10.4
13 cystinosis 10.1
14 pityriasis rubra pilaris 10.1
15 triiodothyronine receptor auxiliary protein 10.1
16 cholera 10.1
17 bacterial vaginosis 10.1
18 juvenile rheumatoid arthritis 10.1
19 osteomalacia 10.1
20 intraocular pressure quantitative trait locus 10.0
21 osteoid osteoma 10.0
22 atrioventricular block 10.0
23 atrial fibrillation 10.0
24 patulous eustachian tube 10.0
25 epilepsy 10.0
26 fibromatosis 10.0
27 hypoglycemia 10.0
28 amyloidosis 9.9
29 buschke-ollendorff syndrome 9.9
30 prostate cancer 9.9
31 retinoblastoma 9.9
32 rheumatic fever-related antigen 9.9
33 prostate cancer, hereditary, 8 9.9
34 tropical calcific pancreatitis 9.9
35 prostate cancer, hereditary, 6 9.9
36 hepatitis 9.9
37 pemphigus foliaceus 9.9
38 wrinkles 9.9
39 rheumatic heart disease 9.9
40 heart disease 9.9
41 rheumatic disease 9.9
42 melanoma 9.9
43 dermatitis 9.9
44 polymyositis 9.9
45 streptococcal group a invasive disease 9.9
46 saethre-chotzen syndrome 9.8
47 diabetes insipidus, nephrogenic, autosomal 9.8
48 nephrolithiasis, calcium oxalate 9.8
49 cystinosis, nephropathic 9.8
50 lysinuric protein intolerance 9.8

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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 33 HP:0001324
2 short stature 33 HP:0004322
3 renal insufficiency 33 HP:0000083
4 proteinuria 33 HP:0000093
5 renal tubular dysfunction 33 HP:0000124
6 hypophosphatemia 33 HP:0002148
7 rickets 33 HP:0002748
8 hypokalemia 33 HP:0002900
9 osteomalacia 33 HP:0002749
10 glycosuria 33 HP:0003076
11 lacticaciduria 33 HP:0003648

Symptoms via clinical synopsis from OMIM:

58
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: BioCystinosis (BioCystinosis) 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 30

Anatomical Context for Fanconi Renotubular Syndrome 1

MalaCards organs/tissues related to Fanconi Renotubular Syndrome 1:

42
Kidney, Prostate, T Cells, Liver, Heart, Bone, Eye

Publications for Fanconi Renotubular Syndrome 1

Articles related to Fanconi Renotubular Syndrome 1:

# Title Authors Year
1
Hnf4a deletion in the mouse kidney phenocopies Fanconi renotubular syndrome. ( 30046000 )
2018

Variations for Fanconi Renotubular Syndrome 1

ClinVar genetic disease variations for Fanconi Renotubular Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EHHADH NM_001966.3(EHHADH): c.1816_1817insG (p.Thr606Serfs) insertion Uncertain significance rs1553775828 GRCh37 Chromosome 3, 184910369: 184910370
2 EHHADH NM_001966.3(EHHADH): c.1816_1817insG (p.Thr606Serfs) insertion Uncertain significance rs1553775828 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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