MCID: FNC059
MIFTS: 34

Fanconi-Like Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Fanconi-Like Syndrome

MalaCards integrated aliases for Fanconi-Like Syndrome:

Name: Fanconi-Like Syndrome 57 12 15
Fanconi Like Syndrome 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
fanconi-like syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090066
OMIM® 57 227850
MedGen 41 C0151638
UMLS 70 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 fanconi syndrome and congenital intrinsic factor deficiency. An important gene associated with Fanconi-Like Syndrome is SLC6A18 (Solute Carrier Family 6 Member 18), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Glucose / Energy Metabolism. Affiliated tissues include lung, kidney and liver, and related phenotypes are osteomyelitis and pancytopenia

More information from OMIM: 227850

Related Diseases for Fanconi-Like Syndrome

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



Diseases related to Fanconi-Like Syndrome

Symptoms & Phenotypes for Fanconi-Like Syndrome

Human phenotypes related to Fanconi-Like Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 osteomyelitis 31 HP:0002754
2 pancytopenia 31 HP:0001876
3 recurrent lower respiratory tract infections 31 HP:0002783
4 multiple cutaneous malignancies 31 HP:0007606
5 multiple bilateral pneumothoraces 31 HP:0005939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skel:
osteomyelitis

Heme:
pancytopenia

Respiratory:
multiple bilateral pneumothoraces
chronic lung infections

Immunology:
recurrent infections
low iga

Skin:
multiple cutaneous malignancies

Clinical features from OMIM®:

227850 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Fanconi-Like Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 ABCC4 CLTRN CUBN LRP2 SLC22A6 SLC5A1
2 renal/urinary system MP:0005367 9.23 ABCC4 CLTRN CUBN LRP2 SLC22A6 SLC5A1

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:

40
Lung, Kidney, Liver

Publications for Fanconi-Like Syndrome

Articles related to Fanconi-Like Syndrome:

(show all 28)
# Title Authors PMID Year
1
Fanconi-like syndrome. Immunologic deficiency, pancytopenia, and cutaneous malignancies. 61 57
4692131 1973
2
Deferasirox-induced liver injury and Fanconi syndrome in a beta-thalassemia major male. 61
32646935 2020
3
Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency. 61
32250467 2020
4
Reliability of calcium-phosphorus (Ca/P) ratio as a new, accurate and inexpensive tool in the diagnosis of some Ca-P disorders. 61
30796757 2019
5
Invasive Pneumococcal Disease Associated with Fanconi-Like Syndrome. 61
31742198 2019
6
Vps34/PI3KC3 deletion in kidney proximal tubules impairs apical trafficking and blocks autophagic flux, causing a Fanconi-like syndrome and renal insufficiency. 61
30237523 2018
7
mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells. 61
27297946 2017
8
A Case of Acute Tubulointerstitial Nephritis Associated with Rifampin Therapy Presenting as Fanconi-like Syndrome. 61
28184344 2017
9
Acquired Bartter syndrome following gentamicin therapy. 61
27942182 2016
10
Acquired Fanconi-like syndrome cases associated with dried chicken and duck meat ingestion. 61
26893338 2016
11
Unusual manifestation of crystalline light chain tubulopathy in patient with multiple myeloma: case report and review of the literature. 61
24512271 2014
12
Acquired Bartter-like syndrome association with netilmicin therapy in an extremely low birth weight infant. 61
24059693 2014
13
Carboplatin-induced Fanconi-like syndrome in rats: amelioration by pentoxifylline. 61
24361643 2014
14
Two unusual cases of severe recalcitrant hypocalcemia due to aminoglycoside-induced hypomagnesemia. 61
24251160 2013
15
Aminoglycoside-induced nephrotoxicity studied by proton magnetic resonance spectroscopy of urine. 61
21372252 2011
16
Clinical monitoring and correlates of nephropathy in SIV-infected macaques during high-dose antiretroviral therapy. 61
21255437 2011
17
Amikacin-induced type 5 Bartter-like syndrome with severe hypocalcemia. 61
19884751 2009
18
Nephrotoxicity in a child with perinatal HIV on tenofovir, didanosine and lopinavir/ritonavir. 61
16773419 2006
19
Nephrolithiasis in a worker with cadmium exposure in the past. 61
16001205 2005
20
Nephrotoxicity related to new therapeutic compounds. 61
15957551 2005
21
Biological effects of short-term or prolonged administration of 9-[2-(phosphonomethoxy)propyl]adenine (tenofovir) to newborn and infant rhesus macaques. 61
15105094 2004
22
Fanconi-like syndrome and rhabdomyolysis in a person with HIV infection on highly active antiretroviral treatment including tenofovir. 61
12963392 2003
23
Aminoglycoside-induced reversible tubular dysfunction. 61
12571406 2003
24
A prospective evaluation of ifosfamide-related nephrotoxicity in children and young adults. 61
8625085 1995
25
Ifosfamide/carboplatin/etoposide (ICE) for recurrent malignant solid tumors of childhood: a Pediatric Oncology Group Phase I/II study. 61
7620926 1995
26
Renal complications in glycogen storage disease type I. 61
8319728 1993
27
Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment. 61
2025544 1991
28
The selective action of nickel on tubule function in rabbit kidneys. 61
6515659 1984

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

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 SLCO4A1 SLCO1C1 SLCO1A2 SLC6A18 SLC5A2 SLC5A1
2 12.16 SLC5A2 SLC5A1 ABCC4
3
Show member pathways
11.67 SLCO1A2 SLC22A6 ABCC4
4 11.62 SLC6A18 SLC5A2 SLC5A1 ABCC4
5 11.5 SLCO1A2 SLC5A1 ABCC4
7 10.78 SLC22A6 ABCC4
8
Show member pathways
10.63 SLCO1A2 SLC22A6
9 10.48 SLC22A6 ABCC4
10
Show member pathways
10.43 SLCO1A2 SLC22A6 ABCC4
11 10.22 SLC22A6 ABCC4

GO Terms for Fanconi-Like Syndrome

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.06 SLCO4A1 SLCO1C1 SLCO1A2 SLC6A18 SLC5A2 SLC5A1
2 integral component of membrane GO:0016021 9.96 SLCO4A1 SLCO1C1 SLCO1A2 SLC6A18 SLC5A2 SLC5A1
3 extracellular exosome GO:0070062 9.91 SLC5A2 SLC5A1 SLC22A6 LRP2 CUBN CLTRN
4 integral component of plasma membrane GO:0005887 9.85 SLCO4A1 SLCO1C1 SLCO1A2 SLC6A18 SLC5A1 SLC22A6
5 plasma membrane GO:0005886 9.7 SLCO4A1 SLCO1C1 SLCO1A2 SLC6A18 SLC5A2 SLC5A1
6 basolateral plasma membrane GO:0016323 9.58 SLCO1C1 SLC22A6 ABCC4
7 apical plasma membrane GO:0016324 9.55 SLC6A18 SLC5A1 LRP2 CUBN ABCC4
8 clathrin-coated pit GO:0005905 9.49 LRP2 CUBN
9 endocytic vesicle GO:0030139 9.48 LRP2 CUBN
10 brush border GO:0005903 9.46 LRP2 CUBN
11 brush border membrane GO:0031526 8.92 SLC6A18 SLC5A1 LRP2 CUBN

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.77 SLCO4A1 SLCO1C1 SLCO1A2 SLC5A2 SLC5A1
2 anion transmembrane transport GO:0098656 9.51 SLC22A6 ABCC4
3 transmembrane transport GO:0055085 9.5 SLCO4A1 SLCO1C1 SLCO1A2 SLC5A2 SLC5A1 SLC22A6
4 carbohydrate transport GO:0008643 9.49 SLC5A2 SLC5A1
5 bile acid and bile salt transport GO:0015721 9.48 SLCO1C1 SLCO1A2
6 sodium ion import across plasma membrane GO:0098719 9.46 SLC5A2 SLC5A1
7 vitamin D metabolic process GO:0042359 9.43 LRP2 CUBN
8 thyroid hormone transport GO:0070327 9.4 SLCO4A1 SLCO1C1
9 organic anion transport GO:0015711 9.33 SLCO1C1 SLCO1A2 SLC22A6
10 glucose import across plasma membrane GO:0098708 9.32 SLC5A2 SLC5A1
11 alpha-glucoside transport GO:0000017 9.26 SLC5A2 SLC5A1
12 sodium-independent organic anion transport GO:0043252 8.92 SLCO4A1 SLCO1C1 SLCO1A2 SLC22A6

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.61 SLC6A18 SLC5A2 SLC5A1
2 bile acid transmembrane transporter activity GO:0015125 9.46 SLCO1C1 SLCO1A2
3 transmembrane transporter activity GO:0022857 9.43 SLCO4A1 SLCO1C1 SLCO1A2 SLC5A2 SLC5A1 SLC22A6
4 glucose:sodium symporter activity GO:0005412 9.4 SLC5A2 SLC5A1
5 D-glucose transmembrane transporter activity GO:0055056 9.37 SLC5A2 SLC5A1
6 organic anion transmembrane transporter activity GO:0008514 9.33 SLCO1C1 SLCO1A2 SLC22A6
7 thyroid hormone transmembrane transporter activity GO:0015349 9.32 SLCO4A1 SLCO1C1
8 alpha-glucoside transmembrane transporter activity GO:0015151 9.26 SLC5A2 SLC5A1
9 sodium-independent organic anion transmembrane transporter activity GO:0015347 8.92 SLCO4A1 SLCO1C1 SLCO1A2 SLC22A6

Sources for Fanconi-Like Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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