MCID: PRM200
MIFTS: 21

Primary Fanconi Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Primary Fanconi Syndrome

MalaCards integrated aliases for Primary Fanconi Syndrome:

Name: Primary Fanconi Syndrome 53 59
Primary Fanconi Renotubular Syndrome 53 59
De Toni-Debre-Fanconi Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
primary fanconi syndrome
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

ICD10 via Orphanet 34 E72.0
Orphanet 59 ORPHA3337
UMLS 72 C1857395

Summaries for Primary Fanconi Syndrome

NIH Rare Diseases : 53 Fanconi syndrome is a condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.

MalaCards based summary : Primary Fanconi Syndrome, also known as primary fanconi renotubular syndrome, is related to fanconi syndrome and aminoaciduria. An important gene associated with Primary Fanconi Syndrome is EHHADH (Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase). The drugs carbamide peroxide and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and liver, and related phenotype is muscle.

Related Diseases for Primary Fanconi Syndrome

Diseases in the Fanconi Syndrome family:

Fanconi-Like Syndrome Primary Fanconi Syndrome

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 fanconi syndrome 29.2 SLC34A1 EHHADH
2 aminoaciduria 28.5 SLC34A1 EHHADH
3 hypophosphatemia 9.9
4 metabolic acidosis 9.9
5 rickets 9.9
6 renal tubular acidosis 9.9
7 fanconi renotubular syndrome 1 9.8
8 renal tubular acidosis, proximal 9.8
9 renal glucosuria 9.8
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
11 sensorineural hearing loss 9.8
12 cystinosis 9.8
13 nephrocalcinosis 9.8
14 hypokalemia 9.8

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



Diseases related to Primary Fanconi Syndrome

Symptoms & Phenotypes for Primary Fanconi Syndrome

MGI Mouse Phenotypes related to Primary Fanconi Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 EHHADH SLC34A1

Drugs & Therapeutics for Primary Fanconi Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved 124-43-6
2
Calcium Approved, Nutraceutical 7440-70-2 271
3 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460

Search NIH Clinical Center for Primary Fanconi Syndrome

Genetic Tests for Primary Fanconi Syndrome

Anatomical Context for Primary Fanconi Syndrome

MalaCards organs/tissues related to Primary Fanconi Syndrome:

41
Bone, Kidney, Liver

Publications for Primary Fanconi Syndrome

Articles related to Primary Fanconi Syndrome:

# Title Authors PMID Year
1
Comparison of growth in primary Fanconi syndrome and proximal renal tubular acidosis. 38
15703948 2005
2
Long-term outcome of paediatric patients with hereditary tubular disorders. 38
10529632 1999
3
Primary Fanconi syndrome. 38
9357213 1997
4
Adult Fanconi syndrome and liver cirrhosis. 38
2134330 1990
5
Two case studies from a family with primary Fanconi syndrome. 38
2919605 1989
6
Hypercalciuria in a child with primary Fanconi syndrome and hearing loss. 38
6853042 1983

Variations for Primary Fanconi Syndrome

Expression for Primary Fanconi Syndrome

Search GEO for disease gene expression data for Primary Fanconi Syndrome.

Pathways for Primary Fanconi Syndrome

GO Terms for Primary Fanconi Syndrome

Sources for Primary Fanconi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....