MCID: FNC026
MIFTS: 32

Fanconi Renotubular Syndrome 1

Categories: Nephrological diseases, Genetic diseases

Aliases & Classifications for Fanconi Renotubular Syndrome 1

MalaCards integrated aliases for Fanconi Renotubular Syndrome 1:

Name: Fanconi Renotubular Syndrome 1 57
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 and liver, and related phenotypes are renal insufficiency and proteinuria

CDC : 3 On This Page

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 52)
# Related Disease Score Top Affiliating Genes
1 fanconi renotubular syndrome 2 12.5
2 fanconi renotubular syndrome 3 12.5
3 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 12.5
4 primary fanconi syndrome 11.3
5 fanconi-bickel syndrome 11.2
6 iminoglycinuria 11.1
7 dent disease 1 11.1
8 rheumatic fever 11.0
9 negative rheumatoid factor polyarthritis 10.9
10 fanconi syndrome 10.6
11 rheumatoid arthritis 10.2
12 arthritis 10.2
13 cystinosis 10.0
14 bacterial vaginosis 10.0
15 epilepsy 9.9
16 fibromatosis 9.9
17 osteomalacia 9.9
18 atrial fibrillation 9.8
19 juvenile rheumatoid arthritis 9.8
20 cryoglobulinemia, familial mixed 9.7
21 prostate cancer 9.7
22 wolff-parkinson-white syndrome 9.7
23 hurler syndrome 9.7
24 saethre-chotzen syndrome 9.7
25 diabetes insipidus, nephrogenic, autosomal 9.7
26 nephrolithiasis, calcium oxalate 9.7
27 cystinosis, nephropathic 9.7
28 lysinuric protein intolerance 9.7
29 diarrhea 2, with microvillus atrophy 9.7
30 phenylketonuria 9.7
31 sjogren syndrome 9.7
32 hypophosphatemic rickets, x-linked recessive 9.7
33 combined immunodeficiency, x-linked 9.7
34 alpha-thalassemia 9.7
35 chronic kidney failure 9.7
36 hepatitis 9.7
37 holoprosencephaly 9.7
38 liver disease 9.7
39 renal tubular acidosis 9.7
40 severe combined immunodeficiency 9.7
41 thalassemia 9.7
42 hypophosphatemia 9.7
43 rickets 9.7
44 nephrocalcinosis 9.7
45 histiocytosis 9.7
46 myopathy 9.7
47 kidney disease 9.7
48 monoclonal gammopathy of uncertain significance 9.7
49 macroglobulinemia 9.7
50 diabetes insipidus 9.7

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

GU:
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 renal insufficiency 32 HP:0000083
2 proteinuria 32 HP:0000093
3 renal tubular dysfunction 32 HP:0000124
4 muscle weakness 32 HP:0001324
5 hypophosphatemia 32 HP:0002148
6 rickets 32 HP:0002748
7 osteomalacia 32 HP:0002749
8 hypokalemia 32 HP:0002900
9 glycosuria 32 HP:0003076
10 lacticaciduria 32 HP:0003648
11 short stature 32 HP:0004322

Drugs & Therapeutics for Fanconi Renotubular Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cure Cystinosis International Registry Recruiting NCT01327807

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

Anatomical Context for Fanconi Renotubular Syndrome 1

MalaCards organs/tissues related to Fanconi Renotubular Syndrome 1:

41
Kidney, Liver

Publications for Fanconi Renotubular Syndrome 1

Articles related to Fanconi Renotubular Syndrome 1:

(show all 33)
# Title Authors Year
1
Osteomalacia due to adult Fanconi syndrome in multiple myeloma. ( 21281229 )
2011
2
Skeletal scintigraphy in acquired adult Fanconi syndrome. ( 11805488 )
2002
3
Adult Fanconi syndrome secondary to light chain gammopathy. Clinicopathologic heterogeneity and unusual features in 11 patients. ( 10844934 )
2000
4
V-domain deposition of lambda Bence Jones protein in the renal tubular epithelial cells in a patient with the adult Fanconi syndrome with myeloma. ( 9686306 )
1998
5
Adult Fanconi syndrome secondary to kappa-light chain myeloma: improvement of tubular functions after treatment for myeloma. ( 2115147 )
1990
6
Adult Fanconi syndrome and liver cirrhosis. ( 2134330 )
1990
7
Adult Fanconi syndrome in primary amyloidosis with lambda light-chain proteinuria. ( 2509772 )
1989
8
Adult Fanconi syndrome in kappa light chain myeloma. ( 3101650 )
1987
9
Hypophosphatemic osteomalacia and adult Fanconi syndrome due to light-chain nephropathy. Another form of oncogenous osteomalacia. ( 3101497 )
1987
10
Adult Fanconi syndrome progressing to multiple myeloma. ( 6438183 )
1984
11
Unique amino acid sequences of Bence Jones proteins in the urine of patients with adult Fanconi syndrome. ( 6804793 )
1982
12
Occurrence of adult Fanconi syndrome in benign monoclonal gammopathy. ( 7468311 )
1980
13
Kappa light chain--myeloma associated with adult Fanconi syndrome: response of the nephropathy to treatment of myeloma. ( 96325 )
1978
14
Neurogenic muscle atrophy and osteomalacia in adult Fanconi syndrome. ( 889295 )
1977
15
A unique amino acid sequence of a k-chain obtained from a patient with adult Fanconi syndrome: a new subset sequence. ( 413788 )
1977
16
Light chain myeloma with features of the adult Fanconi syndrome: six years remission following one course of melphalan. ( 820162 )
1976
17
Adult Fanconi syndrome, amyloidosis and marked kappa-light chain proteinuria. ( 4571924 )
1973
18
Multiple myeloma presenting as adult Fanconi syndrome. ( 5020828 )
1972
19
The adult Fanconi syndrome: observations on etiology, morphology, renal function and mineral metabolism in three patients. ( 5013635 )
1972
20
Adult Fanconi syndrome and multiple myelomatosis. ( 5798628 )
1969
21
Some problems of the adult Fanconi-syndrome. ( 5604980 )
1967
22
Adult Fanconi syndrome with monoclonal abnormality of immunoglobulin light chain. ( 6016886 )
1967
23
Adult Fanconi syndrome. Study of a family. ( 5905530 )
1966
24
The adult Fanconi syndrome. ( 5902903 )
1966
25
ADULT FANCONI SYNDROME. ( 14227575 )
1965
26
ADULT FANCONI SYNDROME AND CIRRHOSIS. ( 14238685 )
1965
27
TREATMENT OF THE ADULT FANCONI SYNDROME WITH ORAL PHOSPHATE SUPPLEMENTS AND ALKALI. REPORT OF TWO CASES ASSOCIATED WITH NEPHROLITHIASIS. ( 14072374 )
1963
28
The adult Fanconi syndrome. Report of two cases, one with multiple myeloma. ( 14026368 )
1963
29
Aminoaciduria produced by hydrocortisone in normals and in members of a family with adult Fanconi syndrome. ( 13992202 )
1963
30
Metabolic studies of renal osteodystrophy. I. Calcium, phosphorus and nitrogen metabolism in rickets, osteomalacia and hyperparathyroidism complicating chronic uremia and in the osteomalacia of the adult Fanconi syndrome. ( 13916186 )
1962
31
Progressive muscular weakness and pain as symptoms of adult Fanconi syndrome. ( 13666930 )
1959
32
Multiple myeloma and the adult Fanconi syndrome. I. Report of a case with crystal-like deposits in the tumor cells and in the epithelial cells of the kidney. ( 13381734 )
1957
33
The adult Fanconi syndrome. II. Review of eighteen cases. ( 13381735 )
1957

Variations for Fanconi Renotubular Syndrome 1

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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