Fanconi Syndrome malady

Wikipedia: Fanconi syndrome (also known as Fanconi\'s syndrome) is a disease of the proximal renal tubules of the...⁴⁴ more...

MalaCards: Fanconi Syndrome, also known as adult fanconi syndrome, is related to cystinosis and nephropathic cystinosis. An important gene associated with Fanconi Syndrome is FRTS (Fanconi renotubular syndrome), and among its related pathways are Inositol phosphate metabolism and Lysosome. The compounds hyaluronic acid and 99mtc-dmsa have been mentioned in the context of this disorder. Affiliated tissues include kidney and b cells, and related mouse phenotypes are liver/biliary system and growth/size.

Aliases & Descriptions:

fanconi syndrome 6 8 43 adult fanconi syndrome 6 43 infantile nephropathic cystinosis (disorder) 6 fanconi-de toni-debre syndrome (disorder) 6 congenital fanconi syndrome (disorder) 6 cystinosis, infantile nephropathic 43 adult fanconi syndrome (disorder) 6 fanconi syndrome (disorder) 6

de toni-fanconi syndrome 6 fanconi-de-toni syndrome 6 fanconi-de toni syndrome 6 lignac-fanconi syndrome 6 detoni fanconi syndrome 6 adult fanconi anemia 6 fanconi anemia 43

Diseases related to fanconi syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 152)

id	Related Disease	Score	Top Affiliating Genes
1	cystinosis	28.8	CTNS, CUBN, ALB, LRP2
2	nephropathic cystinosis	27.4	CTNS, CUBN, LRP2
3	dent disease	26.4	OCRL, CUBN, INPP5E, CLCN5, CLCN4, LRP2
4	nephrocalcinosis	26.4	OCRL, ALB, CLCN5, NAGLU, LRP2
5	phenylketonuria	26.3	ALB, HNF1A, TF
6	nephritis	25.3	OGDH, TF, ALB, NAGLU, LRP2
7	hepatocellular carcinoma	24.5	SLC2A2, TF, PHKA2, CTSD, HNF1A, ALB
8	carcinoma	24.4	HNF1A, CUBN, CTSD, PHKA2, TF, OCRL
9	hepatitis	21.9	SLC2A2, OGDH, TF, PHKA2, CTSD, CUBN
10	fanconi's anemia	13.9
11	anemia	13.9
12	tyrosinemia type i	13.4	ALAD, FAH
13	glycogen storage disease i	13.4	NEK3, PHKA2
14	microphthalmia with linear skin defects	13.4	ARHGAP1, CLCN4
15	urinary tract obstruction	13.2	AMBP, NAGLU
16	renal tubular acidosis	13.1	OCRL, AMBP, CLCN5
17	mucinous tubular and spindle renal cell carcinoma	13.1	SLC2A2, CLCN5, NAGLU
18	acute kidney tubular necrosis	13.1	ALB, AMBP
19	interstitial nephritis	13.0	OCRL, CTNS, ALB
20	aminoaciduria	13.0	SLC7A7, OCRL, HNF1A, CLCN5
21	lysosomal storage disease	12.9	NAGLU, CTNS, CTSD
22	hypertensive nephropathy	12.9	ALB, AMBP, NAGLU
23	chronic rapidly progressive glomerulonephritis	12.9	ALB, AMBP, NAGLU
24	urolithiasis	12.9	ALB, AMBP, NAGLU
25	nephrolithiasis	12.8	OCRL, AMBP, CLCN5, CLCN4, NAGLU
26	hypophosphatemia	12.8	OCRL, ALB, AMBP, CLCN5
27	acute intermittent porphyria	12.8	AVP, ALAD, TF
28	tyrosinemia	12.8	FAH, ALAD
29	autoimmune disease of central nervous system	12.8	TF, AMBP
30	rickets	12.7	CLCN5, FAH, ALB, OCRL
31	focal glomerulosclerosis	12.6	CLCN5, ALB
32	oculocerebrorenal syndrome	12.6	OCRL, INPP5E, NAGLU, LRP2
33	letterer-siwe disease	12.6	AVP, ALB, CTSD
34	lipoid nephrosis	12.5	TF, ALB
35	hyperuricemia	12.5	ALB, SLC2A6, SLC17A1
36	yellow nail syndrome	12.5	TF, ALB
37	nutritional deficiency disease	12.5	TF, ALB
38	peripheral neuropathy	12.5	AVP, FAH, ALAD, ALB
39	marasmus	12.5	TF, ALB
40	type 1 diabetes mellitus	12.4	HNF1A, ALB, AMBP, NAGLU
41	porphyria cutanea tarda	12.4	TF, ALB, ALAD
42	hypoglycemia	12.4	NEK3, SLC2A2, ALB, IGF2R, AVP
43	steroid-resistant nephrotic syndrome	12.3	TF, ALB, NAGLU
44	uremia	12.2	TF, ALB, ALAD, AMBP
45	pyelonephritis	12.1	TF, ALB, AMBP, NAGLU
46	iron overload	12.1	SLC7A7, TF, ALB, NAGLU
47	galactosemia	12.0	TF, HNF1A, ALB, FAH
48	focal segmental glomerulosclerosis	12.0	TF, ALB, CLCN5, NAGLU
49	hyperglycemia	11.9	SLC2A2, HNF1A, ALB, AVP, NAGLU
50	chronic kidney failure	11.9	TF, ALB, ALAD, CLCN5, NAGLU

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to fanconi syndrome:

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MGI Mouse Phenotypes related to fanconi syndrome:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	8.1	ALB, IGF2R, FAH, ARHGAP1, CLCN5, NAGLU
2	growth/size phenotype	MP:0005378	7.8	SLC2A2, SLC7A7, OCRL, IGF2R, FAH, INPP5E
3	skeleton phenotype	MP:0005390	7.6	SLC7A7, CTNS, HNF1A, IGF2R, INPP5E, ARHGAP1
4	renal/urinary system phenotype	MP:0005367	5.9	LRP2, SLC7A7, OCRL, CTNS, CUBN, HNF1A
5	homeostasis/metabolism phenotype	MP:0005376	5.2	CTNS, CTSD, TF, OCRL, SLC7A7, SLC2A2
6	mortality/aging	MP:0010768	4.6	HNF1A, CUBN, CTSD, TF, OCRL, SLC7A7

Articles related to fanconi syndrome:

(show all 13)

id	Title	Authors	Year	Affiliating Genes
1	Lysosomal enzymuria is a feature of hereditary Fanconi syndrome and is related to elevated CI-mannose-6-P-receptor excretion. (18174267)	Norden A.G.... Unwin R.J.	2008	CTSD, IGF2R, NAGLU
2	Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance. (17530437)	Benninga M.A.... Poll-The B.T.	2007	SLC7A7
3	A rare case of combined syndrome of inappropriate antidiuretic hormone secretion and Fanconi syndrome in an elderly woman. (16797399)	Ishii T.... Kobayashi S.	2006	AVP
4	Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome. (15627171)	Laube G.F.... van't Hoff W.G.	2005	CTNS
5	Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosis. (16129198)	Lino M.... Fakhouri F.	2005	OGDH
6	Urinary megalin deficiency implicates abnormal tubular endocytic function in Fanconi syndrome. (11752029)	Norden A.G.... Moestrup S.K.	2002	LRP2, CUBN
7	Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3. (11090339)	Lichter-Konecki U.... Konecki D.S.	2001	FRTS
8	Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiency. (10872193)	Kuwertz-BrAPking E.... Bulla M.	2000	TF, ALB, AMBP
9	A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato- renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity. (10987651)	Burwinkel B.... Kilimann M.W.	1999	PHKA2, SLC2A2, SLC2A6
10	Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. (8598044)	Pontoglio M.... Yaniv M.	1996	HNF1A
11	Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. (8111383)	Pook M.A.... Thakker R.V.	1993	CLCN5
12	Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency. (8362811)	Sanjad S.A.... Sakati N.A.	1993	NEK3
13	On rat renal aminolevulinate transport and metabolism in experimental Fanconi syndrome. (2288767)	Roth K.S.... Spencer P.D.	1990	ALAD

Genes related to fanconi syndrome according to GeneCards:

(show all 27)

id	Symbol	Description	Score	GeneCards Section Context
1	FRTS	Fanconi renotubular syndrome	11.0	Publications
2	SLC2A6	solute carrier family 2 (facilitated glucose transporter), member 6	11.0	Publications
3	CTNS	cystinosin, lysosomal cystine transporter	10.9	Publications
4	NEK3	NIMA (never in mitosis gene a)-related kinase 3	10.9	Publications
5	INPP5E	inositol polyphosphate-5-phosphatase, 72 kDa	10.9
6	ALAD	aminolevulinate dehydratase	10.9	Publications
7	AVP	arginine vasopressin	10.9	Publications
8	SLC7A7	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	10.9	Publications
9	PHKA2	phosphorylase kinase, alpha 2 (liver)	10.9	Publications
10	SLC2A2	solute carrier family 2 (facilitated glucose transporter), member 2	10.9	Publications
11	OCRL	oculocerebrorenal syndrome of Lowe	10.9
12	OGDH	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	10.9	Publications
13	SLC17A1	solute carrier family 17 (sodium phosphate), member 1	10.9
14	AMBP	alpha-1-microglobulin/bikunin precursor	10.9	Publications
15	CLCN5	chloride channel, voltage-sensitive 5	10.9	Publications
16	ARHGAP1	Rho GTPase activating protein 1	10.9
17	CLCN4	chloride channel, voltage-sensitive 4	10.9
18	FAH	fumarylacetoacetate hydrolase (fumarylacetoacetase)	10.9
19	NAGLU	N-acetylglucosaminidase, alpha	10.9	Publications
20	HNF1A	HNF1 homeobox A	10.9	Publications
21	IGF2R	insulin-like growth factor 2 receptor	10.9	Publications
22	CTSD	cathepsin D	10.9	Publications
23	INPP5A	inositol polyphosphate-5-phosphatase, 40kDa	10.9
24	LRP2	low density lipoprotein receptor-related protein 2	10.9	Publications
25	CUBN	cubilin (intrinsic factor-cobalamin receptor)	10.9	Publications
26	TF	transferrin	10.9	Publications
27	ALB	albumin	10.9	Publications

Pathways related to fanconi syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Inositol phosphate metabolism20	9.6	INPP5A, INPP5E, OCRL
2	Lysosome20	9.1	CTSD, CTNS, IGF2R, NAGLU
3	Selected targets of HNF110	9.1	ALB, HNF1A, SLC2A2
4	Selected targets of C/EBPalpha10	8.9	ALB, TF, SLC2A2

Compounds related to fanconi syndrome according to GeneDecks:

(show all 50)

id	Compound	Score	Top Affiliating Genes
1	hyaluronic acid32 18	11.3	CTSD
2	99mtc-dmsa32	10.3	NAGLU, AMBP
3	amikacin32	10.3	NAGLU, AMBP
4	dmsa32	10.2	NAGLU, AMBP, ALAD
5	trichloroethylene32	10.1	NAGLU, AMBP, ALAD
6	fructose32 9 9	12.0	SLC2A6, SLC2A2, ALAD, NAGLU
7	iopentol32	10.0	NAGLU, ALB
8	p-aminohippuric acid32	9.9	NAGLU, ALB
9	iohexol32	9.8	ALB, AMBP, NAGLU
10	inulin32	9.8	ALB, AMBP, NAGLU
11	cadmium32 18	10.8	HNF1A, ALAD, AMBP, NAGLU
12	enalapril32 9 9	11.8	NAGLU, AMBP, ALB
13	fluoride32	9.7	CTSD, ARHGAP1, NAGLU
14	aminoglycosides32	9.6	LRP2, NAGLU
15	c-peptide32	9.6	NAGLU, HNF1A, SLC2A2
16	succinylacetone32	9.6	FAH, ALAD, TF
17	aluminium32 9 9	11.6	NAGLU, TF
18	glycogen32 18	10.5	NEK3, SLC2A2, OGDH, PHKA2, IGF2R
19	kp-101932	9.5	TF, ALB
20	pyruvate32	9.5	SLC2A2, OGDH, PHKA2, CTSD, HNF1A
21	uric acid32 18	10.5	ALB, ALAD, AMBP, AVP, NAGLU
22	Bismuth Subsalicylate9 9	10.4	ALB, TF
23	ifosfamide32 9 9	11.4	NAGLU, AMBP, TF
24	nh4cl32	9.4	TF, CTSD, AMBP
25	bismuth32 18	10.3	TF, ALB
26	sialic acid32	9.2	TF, CTNS, AMBP, NAGLU
27	gentamicin32 9 9	11.2	LRP2, NAGLU, TF
28	proline32	9.1	SLC2A6, SLC2A2, PHKA2, HNF1A, AVP
29	25-hydroxyvitamin d32	9.1	CUBN, ALB, LRP2
30	potassium32 9 18 9	12.1	SLC2A2, HNF1A, ALB, ALAD, AMBP, NAGLU
31	gelfoam32	9.0	ALB, TF
32	citrate32	8.9	SLC2A6, OGDH, TF, ALB, NAGLU
33	Heme9 18 9	10.8	AMBP, ALAD, ALB, TF
34	vitamin d32	8.6	CUBN, ALB, ALAD, NAGLU, LRP2
35	magnesium32 9 18 9	11.6	NEK3, ALB, ALAD, FAH, ARHGAP1, NAGLU
36	sodium32 18	9.5	SLC17A1, SLC2A2, SLC7A7, ALB, AMBP, AVP
37	calcitriol32 42 9 18 9	12.5	CTSD, CUBN, ALB, LRP2
38	vitamin a32 9 18 9	11.4	TF, ALB, AMBP, NAGLU, LRP2
39	vitamin b1232	8.3	TF, CUBN, ALB, ALAD, LRP2
40	steroid32	8.2	CTSD, CUBN, HNF1A, AMBP, AVP, NAGLU
41	folate32	8.2	LRP2, ALB, CUBN, TF
42	aspartate32	8.0	OGDH, TF, CTSD, ALB, AMBP, FAH
43	lactate32	8.0	NEK3, OGDH, TF, CTSD, ALB, ALAD
44	alanine32	7.9	NAGLU, AVP, FAH, AMBP, ALB, CTSD
45	iron32 18	8.9	TF, CUBN, ALB, ALAD, NAGLU, LRP2
46	glucose32	7.8	SLC2A6, SLC2A2, OGDH, PHKA2, CTSD, HNF1A
47	lipid32	7.3	OCRL, OGDH, CUBN, HNF1A, ALB, ALAD
48	creatinine32	7.1	NAGLU, NEK3, OCRL, OGDH, TF, CTSD
49	cholesterol32 9 18 9	10.0	TF, CTSD, CUBN, HNF1A, ALB, IGF2R
50	calcium32 9 18 9	9.0	ALB, CUBN, CTSD, PHKA2, OGDH, NEK3

Cellular components related to fanconi syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	brush border membrane	GO:031526	9.1	LRP2, CUBN, SLC2A2
2	lysosomal lumen	GO:043202	9.1	NAGLU, CUBN, CTSD
3	lysosome	GO:005764	8.8	LRP2, NAGLU, CTNS, CTSD
4	endocytic vesicle	GO:030139	8.7	TF, IGF2R, LRP2
5	coated pit	GO:005905	8.4	LRP2, CUBN, TF, OCRL

Biological processes related to fanconi syndrome according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	phosphatidylinositol phosphorylation	GO:046854	9.8	INPP5A, INPP5E, OCRL
2	generation of precursor metabolites and energy	GO:006091	9.6	OGDH, PHKA2, AVP
3	hemoglobin import	GO:020028	9.4	LRP2, CUBN
4	vitamin D metabolic process	GO:042359	9.3	LRP2, CUBN
5	receptor-mediated endocytosis	GO:006898	9.0	CUBN, IGF2R, LRP2
6	lipid metabolic process	GO:006629	8.5	LRP2, ALB, CUBN, OCRL
7	transmembrane transport	GO:055085	8.3	SLC17A1, SLC2A6, SLC2A2, SLC7A7, TF, ALB
8	small molecule metabolic process	GO:044281	7.2	LRP2, SLC2A2, OCRL, OGDH, PHKA2, CUBN

Molecular functions related to fanconi syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	GO:004439	10.0	INPP5E, OCRL
2	inositol-polyphosphate 5-phosphatase activity	GO:004445	9.9	INPP5A, INPP5E
3	hemoglobin binding	GO:030492	9.0	LRP2, CUBN