RFS
MCID: FNC026
MIFTS: 32

Fanconi Renotubular Syndrome 1 (RFS)

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 57 6
Fanconi Renotubular Syndrome 57 37 13
Renal Fanconi Syndrome 57 29
Adult Fanconi Syndrome 57 73
Fanconi Syndrome Without Cystinosis 57
Fanconi Renotubular Syndrome; Frts 57
Renal Fanconi Syndrome; Rfs 57
Luder-Sheldon Syndrome 57
Frts1 57
Frts 57
Rfs 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
fanconi renotubular syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fanconi Renotubular Syndrome 1

OMIM : 57 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, skin and liver, 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 125)
# Related Disease Score Top Affiliating Genes
1 fanconi renotubular syndrome 2 12.7
2 fanconi renotubular syndrome 3 12.6
3 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 12.6
4 rheumatic fever 11.5
5 primary fanconi syndrome 11.4
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 10.3
12 arthritis 10.3
13 myeloma, multiple 10.1
14 cystinosis 10.1
15 pityriasis rubra pilaris 10.1
16 bacterial vaginosis 10.1
17 osteomalacia 10.0
18 triiodothyronine receptor auxiliary protein 10.0
19 osteoid osteoma 10.0
20 atrioventricular block 10.0
21 epilepsy 10.0
22 juvenile rheumatoid arthritis 10.0
23 fibromatosis 10.0
24 amyloidosis 9.9
25 prostate cancer 9.9
26 pemphigus foliaceus 9.9
27 wrinkles 9.9
28 atrial fibrillation 9.9
29 patulous eustachian tube 9.9
30 saethre-chotzen syndrome 9.8
31 diabetes insipidus, nephrogenic, autosomal 9.8
32 nephrolithiasis, calcium oxalate 9.8
33 cystinosis, nephropathic 9.8
34 lysinuric protein intolerance 9.8
35 diarrhea 2, with microvillus atrophy 9.8
36 phenylketonuria 9.8
37 sjogren syndrome 9.8
38 hypophosphatemic rickets, x-linked recessive 9.8
39 alpha-thalassemia 9.8
40 chronic kidney failure 9.8
41 holoprosencephaly 9.8
42 liver disease 9.8
43 nephrolithiasis 9.8
44 renal tubular acidosis 9.8
45 severe combined immunodeficiency 9.8
46 thalassemia 9.8
47 hypophosphatemia 9.8
48 rickets 9.8
49 nephrocalcinosis 9.8
50 histiocytosis 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Fanconi Renotubular Syndrome 1:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 short stature 32 HP:0004322
3 renal insufficiency 32 HP:0000083
4 proteinuria 32 HP:0000093
5 renal tubular dysfunction 32 HP:0000124
6 hypophosphatemia 32 HP:0002148
7 rickets 32 HP:0002748
8 hypokalemia 32 HP:0002900
9 osteomalacia 32 HP:0002749
10 glycosuria 32 HP:0003076
11 lacticaciduria 32 HP:0003648

Drugs & Therapeutics for Fanconi Renotubular Syndrome 1

Search Clinical Trials , 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

Anatomical Context for Fanconi Renotubular Syndrome 1

MalaCards organs/tissues related to Fanconi Renotubular Syndrome 1:

41
Kidney, Skin, Liver, Heart, Prostate, T Cells, B Cells

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 GRCh37 Chromosome 3, 184910369: 184910370
2 EHHADH NM_001966.3(EHHADH): c.1816_1817insG (p.Thr606Serfs) insertion Uncertain significance 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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