PedAM

Pediatric Disease Annotations & Medicines


	fanconi syndrome

Disease ID	365
Disease	fanconi syndrome
Definition	A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.
Synonym	fanconi syndrome (disorder) fanconi syndrome [disease/finding] fanconi syndrome, nos fanconi's syndrome fanconis syndrome lignac-fanconi syndrome nephropathic cystinosis proximal renal tubular dysfunction syndrome, fanconi
DOID	DOID:1062
UMLS	C0015624
MeSH	D005198
SNOMED-CT	SNOMEDCT_US_2016_09_01:40488004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:51) C0010690 \| cystinosis \| 6 C0026764 \| multiple myeloma \| 4 C0029442 \| osteomalacia \| 4 C0035579 \| rickets \| 3 C0019158 \| hepatitis \| 3 C0027707 \| interstitial nephritis \| 3 C0011847 \| diabetes \| 3 C0027697 \| nephritis \| 3 C0011848 \| diabetes insipidus \| 3 C0026764 \| myeloma \| 3 C0019163 \| hepatitis b \| 3 C0162283 \| nephrogenic diabetes insipidus \| 3 C0035078 \| renal failure \| 2 C0033687 \| proteinuria \| 2 C0024299 \| lymphoma \| 2 C0041349 \| tubulo-interstitial nephritis \| 2 C0042870 \| vitamin d defic \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0023448 \| lymphocytic leukemia \| 1 C1704375 \| hypophosphatemic rickets \| 1 C0024419 \| waldenstrom macroglobulinemia \| 1 C0022661 \| chronic kidney disease \| 1 C0001339 \| acute pancreatitis \| 1 C0023418 \| leukemia \| 1 C0032285 \| pneumonia \| 1 C0019618 \| histiocytosis \| 1 C0041349 \| tubulointerstitial nephritis \| 1 C0022660 \| acute renal failure \| 1 C0022658 \| kidney disease \| 1 C0022658 \| nephropathy \| 1 C0268647 \| lysinuric protein intolerance \| 1 C1136085 \| monoclonal gammopathy \| 1 C0020459 \| hyperinsulinism \| 1 C1704375 \| hypophosphataemic rickets \| 1 C0878544 \| cardiomyopathy \| 1 C0023241 \| legionella pneumonia \| 1 C0039730 \| thalassemia \| 1 C0028860 \| lowe's syndrome \| 1 C0042870 \| vitamin d deficiency \| 1 C0036202 \| sarcoidosis \| 1 C0024419 \| macroglobulinemia \| 1 C1527336 \| sjogren syndrome \| 1 C0042164 \| uveitis \| 1 C0024305 \| non-hodgkin's lymphoma \| 1 C0024790 \| paroxysmal nocturnal hemoglobinuria \| 1 C1565489 \| renal insufficiency \| 1 C0027709 \| nephrocalcinosis \| 1 C0019829 \| hodgkin's lymphoma \| 1 C0022661 \| end stage renal failure \| 1 C0030305 \| pancreatitis \| 1 C0019048 \| hemoglobinuria \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) GPX3 \| 2878 \| CTD_human SLC2A2 \| 6514 \| CTD_human SLC34A1 \| 6569 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:115) 1595 \| CYP51A1 \| DISEASES 23729 \| SHPK \| DISEASES 1277 \| COL1A1 \| DISEASES 7942 \| TFEB \| DISEASES 1962 \| EHHADH \| DISEASES 525 \| ATP6V1B1 \| DISEASES 8074 \| FGF23 \| DISEASES 5184 \| PEPD \| DISEASES 6568 \| SLC17A1 \| DISEASES 6555 \| SLC10A2 \| DISEASES 1327 \| COX4I1 \| DISEASES 50617 \| ATP6V0A4 \| DISEASES 2012 \| EMP1 \| DISEASES 6927 \| HNF1A \| DISEASES 27283 \| TINAG \| DISEASES 6519 \| SLC3A1 \| DISEASES 1182 \| CLCN3 \| DISEASES 2184 \| FAH \| DISEASES 23531 \| MMD \| DISEASES 6505 \| SLC1A1 \| DISEASES 4924 \| NUCB1 \| DISEASES 4036 \| LRP2 \| DISEASES 10686 \| CLDN16 \| DISEASES 6550 \| SLC9A3 \| DISEASES 259 \| AMBP \| DISEASES 6527 \| SLC5A4 \| DISEASES 5972 \| REN \| DISEASES 5868 \| RAB5A \| DISEASES 3934 \| LCN2 \| DISEASES 5741 \| PTH \| DISEASES 4645 \| MYO5B \| DISEASES 760 \| CA2 \| DISEASES 9056 \| SLC7A7 \| DISEASES 26060 \| APPL1 \| DISEASES 3242 \| HPD \| DISEASES 23516 \| SLC39A14 \| DISEASES 84661 \| DPY30 \| DISEASES 213 \| ALB \| DISEASES 3636 \| INPPL1 \| DISEASES 3990 \| LIPC \| DISEASES 290 \| ANPEP \| DISEASES 189 \| AGXT \| DISEASES 6579 \| SLCO1A2 \| DISEASES 7369 \| UMOD \| DISEASES 54205 \| CYCS \| DISEASES 392 \| ARHGAP1 \| DISEASES 3172 \| HNF4A \| DISEASES 9520 \| NPEPPS \| DISEASES 6569 \| SLC34A1 \| DISEASES 205 \| AK4 \| DISEASES 6514 \| SLC2A2 \| DISEASES 10250 \| SRRM1 \| DISEASES 26276 \| VPS33B \| DISEASES 6524 \| SLC5A2 \| DISEASES 29110 \| TBK1 \| DISEASES 10732 \| TCFL5 \| DISEASES 9376 \| SLC22A8 \| DISEASES 391 \| RHOG \| DISEASES 6575 \| SLC20A2 \| DISEASES 5962 \| RDX \| DISEASES 3921 \| RPSA \| DISEASES 204 \| AK2 \| DISEASES 64116 \| SLC39A8 \| DISEASES 3177 \| SLC29A2 \| DISEASES 8087 \| FXR1 \| DISEASES 617 \| BCS1L \| DISEASES 5167 \| ENPP1 \| DISEASES 10861 \| SLC26A1 \| DISEASES 10724 \| MGEA5 \| DISEASES 4514 \| MT-CO3 \| DISEASES 142680 \| SLC34A3 \| DISEASES 6582 \| SLC22A2 \| DISEASES 9213 \| XPR1 \| DISEASES 55811 \| ADCY10 \| DISEASES 1038 \| CDR1 \| DISEASES 1491 \| CTH \| DISEASES 4952 \| OCRL \| DISEASES 7809 \| BSND \| DISEASES 4694 \| NDUFA1 \| DISEASES 56623 \| INPP5E \| DISEASES 64121 \| RRAGC \| DISEASES 3633 \| INPP5B \| DISEASES 229 \| ALDOB \| DISEASES 1188 \| CLCNKB \| DISEASES 1184 \| CLCN5 \| DISEASES 1041 \| CDSN \| DISEASES 10257 \| ABCC4 \| DISEASES 1471 \| CST3 \| DISEASES 116085 \| SLC22A12 \| DISEASES 8029 \| CUBN \| DISEASES 9356 \| SLC22A6 \| DISEASES 9365 \| KL \| DISEASES 57393 \| TMEM27 \| DISEASES 10670 \| RRAGA \| DISEASES 1183 \| CLCN4 \| DISEASES 6557 \| SLC12A1 \| DISEASES 1497 \| CTNS \| DISEASES 10568 \| SLC34A2 \| DISEASES 6736 \| SRY \| DISEASES 2878 \| GPX3 \| DISEASES 3758 \| KCNJ1 \| DISEASES 2591 \| GALNT3 \| DISEASES 137682 \| NDUFAF6 \| DISEASES 10786 \| SLC17A3 \| DISEASES 219623 \| TMEM26 \| DISEASES 7018 \| TF \| DISEASES 210 \| ALAD \| DISEASES 837 \| CASP4 \| DISEASES 8671 \| SLC4A4 \| DISEASES 6559 \| SLC12A3 \| DISEASES 3831 \| KLC1 \| DISEASES 26137 \| ZBTB20 \| DISEASES 2638 \| GC \| DISEASES 567 \| B2M \| DISEASES 4567 \| MT-TL1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	365
Disease	fanconi syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:48) HP:0002749 \| Osteomalacia \| 4 HP:0001970 \| Interstitial nephritis \| 3 HP:0000873 \| Diabetes insipidus \| 3 HP:0006775 \| Multiple myeloma \| 3 HP:0002748 \| Rickets \| 3 HP:0009806 \| Nephrogenic diabetes insipidus \| 3 HP:0012115 \| Liver inflammation \| 3 HP:0200123 \| Chronic liver inflammation \| 3 HP:0000123 \| Nephritis \| 3 HP:0000083 \| Renal insufficiency \| 3 HP:0002665 \| Lymphoma \| 2 HP:0000093 \| Proteinuria \| 2 HP:0002148 \| Hypophosphataemia \| 2 HP:0003076 \| Glucosuria \| 2 HP:0003355 \| Aminoaciduria \| 2 HP:0002150 \| Hypercalcinuria \| 1 HP:0002090 \| Pneumonia \| 1 HP:0002653 \| Bone pain \| 1 HP:0000117 \| Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate \| 1 HP:0005508 \| Waldenstrom macroglobulinemia \| 1 HP:0003641 \| Hemoglobin in urine \| 1 HP:0001735 \| Acute pancreatitis \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0002909 \| Generalized nonspecific aminoaciduria \| 1 HP:0001941 \| acidemia \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0005550 \| Chronic lymphatic leukemia \| 1 HP:0004912 \| Hypophosphatemic rickets \| 1 HP:0000114 \| Proximal tubular defect \| 1 HP:0003109 \| Hyperphosphaturia \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0001909 \| Leukemia \| 1 HP:0001324 \| Muscular weakness \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0012622 \| Chronic kidney disease \| 1 HP:0000103 \| Polyuria \| 1 HP:0001995 \| Hyperchloremic acidosis \| 1 HP:0012531 \| Pain \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0000121 \| Nephrocalcinosis \| 1 HP:0000112 \| Nephropathy \| 1 HP:0001733 \| Pancreatic inflammation \| 1 HP:0100727 \| Histiocytosis \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0003126 \| Tubular proteinuria \| 1 HP:0002157 \| Azotaemia \| 1 HP:0004818 \| Paroxysmal nocturnal hemoglobinuria \| 1 HP:0000554 \| Uveitis \| 1

Disease ID	365
Disease	fanconi syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:13) C2700526 \| erythrocytosis C1963154 \| renal failure C1962972 \| proteinuria C1000483 \| anemia C0546837 \| esophageal cancer C0151747 \| renal tubular dysfunction C0035579 \| rickets C0029442 \| osteomalacia C0027726 \| nephrotic syndrome C0026764 \| myeloma C0026764 \| multiple myeloma C0017927 \| hepatic glycogenosis C0005944 \| metabolic bone disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0029442 \| osteomalacia \| 4 C0035579 \| rickets \| 3 C0026764 \| multiple myeloma \| 3 C0035078 \| renal failure \| 2 C0033687 \| proteinuria \| 2 C0026764 \| myeloma \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113994205	11855931	1497	CTNS	umls:C2931187	BeFree	Homozygosity for a nonsense mutation in CTNS (753G -->A), encoding a premature termination codon (PTC) at amino acid 138 (W138X), results in nephropathic cystinosis.	0.459583541	2002	CTNS;LOC105371492	17	3655305	G	A
rs113994205	11855931	1497	CTNS	umls:C0015624	BeFree	Homozygosity for a nonsense mutation in CTNS (753G -->A), encoding a premature termination codon (PTC) at amino acid 138 (W138X), results in nephropathic cystinosis.	0.002442977	2002	CTNS;LOC105371492	17	3655305	G	A
rs121908125	11855931	1497	CTNS	umls:C0015624	BeFree	Homozygosity for a nonsense mutation in CTNS (753G -->A), encoding a premature termination codon (PTC) at amino acid 138 (W138X), results in nephropathic cystinosis.	0.002442977	2002	CTNS;LOC105371492	17	3655304	G	A,C
rs121908125	11855931	1497	CTNS	umls:C2931187	BeFree	Homozygosity for a nonsense mutation in CTNS (753G -->A), encoding a premature termination codon (PTC) at amino acid 138 (W138X), results in nephropathic cystinosis.	0.459583541	2002	CTNS;LOC105371492	17	3655304	G	A,C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:12)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0015624	carbamazepine	D002220	298-46-4	fanconi syndrome	MESH:D005198	marker/mechanism	10029255
C0015624	clobazam	C012255	22316-47-8	fanconi syndrome	MESH:D005198	marker/mechanism	7624000
C0015624	diatrizoate	D003973	117-96-4	fanconi syndrome	MESH:D005198	marker/mechanism	3198337
C0015624	cisplatin	D002945	15663-27-1	fanconi syndrome	MESH:D005198	marker/mechanism	1649270
C0015624	ifosfamide	D007069	3778-73-2	fanconi syndrome	MESH:D005198	marker/mechanism	10063969
C0015624	imatinib mesylate	D000068877	-	fanconi syndrome	MESH:D005198	marker/mechanism	18215707
C0015624	indomethacin	D007213	53-86-1	fanconi syndrome	MESH:D005198	therapeutic	3856211
C0015624	pamidronate	C019248	40391-99-9	fanconi syndrome	MESH:D005198	marker/mechanism	12637657
C0015624	ritonavir	D019438	-	fanconi syndrome	MESH:D005198	marker/mechanism	14689363
C0015624	tacrolimus	D016559	109581-93-3	fanconi syndrome	MESH:D005198	marker/mechanism	18186898
C0015624	tenofovir	D000068698	-	fanconi syndrome	MESH:D005198	marker/mechanism	12460055
C0015624	valproic acid	D014635	99-66-1	fanconi syndrome	MESH:D005198	marker/mechanism	10029255

FDA approved drug and dosage information(Total Drugs:6)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D005198	norvir	ritonavir	80MG/ML	SOLUTION;ORAL	Prescription	None	Yes	Yes
MESH:D005198	norvir	ritonavir	100MG	CAPSULE;ORAL	Discontinued	None	No	No
MESH:D005198	norvir	ritonavir	100MG	CAPSULE;ORAL	Prescription	None	Yes	Yes
MESH:D005198	norvir	ritonavir	100MG	TABLET;ORAL	Prescription	AB	Yes	Yes
MESH:D005198	gleevec	imatinib mesylate	EQ 50MG BASE Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons	CAPSULE;ORAL	Discontinued	None	Yes	No
MESH:D005198	gleevec	imatinib mesylate	EQ 100MG BASE	TABLET;ORAL	Prescription	AB	Yes	No

FDA labeling changes(Total Drugs:6)
DiseaseID	Pediatric_Labeling_Date	Trade_Name	Generic_Name_or_Proper_Name	Indications Studied	Label Changes Summary	Product Labeling	BPCA(B)	PREA(P)	BPCA(B) and PREA(P)	Pediatric Rule (R)	Sponsor	Pediatric Exclusivity Granted Date	NNPS
MESH:D005198	6/10/2005	norvir	ritonavir	Treatment of HIV-infection in combination with other antiretroviral agents	Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters	Labeling	B	-	-	-	Abbott	06/14/2005	FALSE'
MESH:D005198	6/10/2005	norvir	ritonavir	Treatment of HIV-infection in combination with other antiretroviral agents	Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters	Labeling	B	-	-	-	Abbott	06/14/2005	FALSE'
MESH:D005198	6/10/2005	norvir	ritonavir	Treatment of HIV-infection in combination with other antiretroviral agents	Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters	Labeling	B	-	-	-	Abbott	06/14/2005	FALSE'
MESH:D005198	6/10/2005	norvir	ritonavir	Treatment of HIV-infection in combination with other antiretroviral agents	Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters	Labeling	B	-	-	-	Abbott	06/14/2005	FALSE'
MESH:D005198	09/27/2006	gleevec	imatinib mesylate	Treatment of newly diagnosed pediatric patients with Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) in chronic phase	Extended age range for the treatment of newly diagnosed CML down to pediatric patients There are no data in children < 2 years of age Follow-up in children with newly diagnosed Ph+ chronic phase CML is limited Information on hematologic toxicities, AE profile, clinical studies and dosing guidelines new for newly diagnosed pediatric patients	Labeling	-	-	B, P	-	Novartis	9/6/2006	FALSE'
MESH:D005198	09/27/2006	gleevec	imatinib mesylate	Treatment of newly diagnosed pediatric patients with Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) in chronic phase	Extended age range for the treatment of newly diagnosed CML down to pediatric patients There are no data in children < 2 years of age Follow-up in children with newly diagnosed Ph+ chronic phase CML is limited Information on hematologic toxicities, AE profile, clinical studies and dosing guidelines new for newly diagnosed pediatric patients	Labeling	-	-	B, P	-	Novartis	9/6/2006	FALSE'

Web
Analytics