MCID: FNC059
MIFTS: 33

Fanconi-Like Syndrome

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Fanconi-Like Syndrome

MalaCards integrated aliases for Fanconi-Like Syndrome:

Name: Fanconi-Like Syndrome 57 12 15
Fanconi Like Syndrome 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
fanconi-like syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 227850
Disease Ontology 12 DOID:0090066
MedGen 42 C0151638
UMLS 73 C0151638

Summaries for Fanconi-Like Syndrome

Disease Ontology : 12 A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.

MalaCards based summary : Fanconi-Like Syndrome, also known as fanconi like syndrome, is related to dent disease 1 and fanconi syndrome. An important gene associated with Fanconi-Like Syndrome is ATP6V0A4 (ATPase H+ Transporting V0 Subunit A4), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism. Affiliated tissues include lung, and related phenotypes are pancytopenia and osteomyelitis

Description from OMIM: 227850

Related Diseases for Fanconi-Like Syndrome

Diseases in the Fanconi Syndrome family:

Fanconi-Like Syndrome Primary Fanconi Syndrome

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 dent disease 1 10.1 CUBN LRP2
2 fanconi syndrome 10.1 CUBN LRP2
3 cystinosis 10.0 CUBN LRP2
4 mineral metabolism disease 10.0 ATP6V0A4 CASR
5 diabetes insipidus, nephrogenic, autosomal 9.9 ATP6V0A4 CASR
6 ureteral obstruction 9.8 LRP2 PTGS2
7 pancytopenia 9.8
8 inner ear disease 9.7 ATP6V0A4 B2M
9 osteitis fibrosa 9.5 B2M CASR
10 urinary tract obstruction 9.5 B2M PTGS2
11 membranous nephropathy 9.2 B2M LRP2
12 uremia 9.2 B2M CASR
13 urinary system disease 9.2 ATP6V0A4 B2M LRP2
14 chronic kidney failure 8.9 B2M CASR

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



Diseases related to Fanconi-Like Syndrome

Symptoms & Phenotypes for Fanconi-Like Syndrome

Symptoms via clinical synopsis from OMIM:

57
Heme:
pancytopenia

Respiratory:
chronic lung infections
multiple bilateral pneumothoraces

Skin:
multiple cutaneous malignancies

Immunology:
recurrent infections
low iga

Skel:
osteomyelitis


Clinical features from OMIM:

227850

Human phenotypes related to Fanconi-Like Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 pancytopenia 32 HP:0001876
2 osteomyelitis 32 HP:0002754
3 recurrent lower respiratory tract infections 32 HP:0002783
4 multiple bilateral pneumothoraces 32 HP:0005939
5 multiple cutaneous malignancies 32 HP:0007606

MGI Mouse Phenotypes related to Fanconi-Like Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 ATP6V0A4 B2M CASR CUBN LRP2 PTGS2
2 homeostasis/metabolism MP:0005376 9.63 ATP6V0A4 B2M CASR CUBN LRP2 PTGS2
3 digestive/alimentary MP:0005381 9.62 B2M CASR LRP2 PTGS2
4 mortality/aging MP:0010768 9.43 ATP6V0A4 B2M CASR CUBN LRP2 PTGS2
5 renal/urinary system MP:0005367 9.02 CASR CUBN LRP2 PTGS2 ATP6V0A4

Drugs & Therapeutics for Fanconi-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Fanconi-Like Syndrome

Genetic Tests for Fanconi-Like Syndrome

Anatomical Context for Fanconi-Like Syndrome

MalaCards organs/tissues related to Fanconi-Like Syndrome:

41
Lung

Publications for Fanconi-Like Syndrome

Articles related to Fanconi-Like Syndrome:

# Title Authors Year
1
A Case of Acute Tubulointerstitial Nephritis Associated with Rifampin Therapy Presenting as Fanconi-like Syndrome. ( 28184344 )
2017
2
Acquired Fanconi-like syndrome cases associated with dried chicken and duck meat ingestion. ( 26893338 )
2016
3
Carboplatin-induced Fanconi-like syndrome in rats: Amelioration by pentoxifylline. ( 24361643 )
2013
4
Fanconi-like syndrome and rhabdomyolysis in a person with HIV infection on highly active antiretroviral treatment including tenofovir. ( 12963392 )
2003
5
Fanconi-like syndrome. Immunologic deficiency, pancytopenia, and cutaneous malignancies. ( 4692131 )
1973

Variations for Fanconi-Like Syndrome

Expression for Fanconi-Like Syndrome

Search GEO for disease gene expression data for Fanconi-Like Syndrome.

Pathways for Fanconi-Like Syndrome

GO Terms for Fanconi-Like Syndrome

Cellular components related to Fanconi-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.63 ATP6V0A4 CUBN LRP2
2 lysosomal membrane GO:0005765 9.5 ATP6V0A4 CUBN LRP2
3 apical plasma membrane GO:0016324 9.46 ATP6V0A4 CASR CUBN LRP2
4 phagocytic vesicle membrane GO:0030670 9.43 ATP6V0A4 B2M
5 apical part of cell GO:0045177 9.43 ATP6V0A4 CUBN LRP2
6 clathrin-coated pit GO:0005905 9.4 CUBN LRP2
7 endocytic vesicle GO:0030139 9.37 CUBN LRP2
8 brush border GO:0005903 9.13 ATP6V0A4 CUBN LRP2
9 brush border membrane GO:0031526 8.8 ATP6V0A4 CUBN LRP2

Biological processes related to Fanconi-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.43 CUBN LRP2 PTGS2
2 response to organic cyclic compound GO:0014070 9.4 CASR PTGS2
3 cellular response to hypoxia GO:0071456 9.37 CASR PTGS2
4 ossification GO:0001503 9.32 ATP6V0A4 CASR
5 positive regulation of vasoconstriction GO:0045907 9.16 CASR PTGS2
6 lipoprotein transport GO:0042953 8.96 CUBN LRP2
7 vitamin D metabolic process GO:0042359 8.62 CUBN LRP2

Molecular functions related to Fanconi-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.13 CASR CUBN LRP2
2 drug binding GO:0008144 8.8 CASR CUBN LRP2

Sources for Fanconi-Like Syndrome

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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