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	fanconi syndrome

Disease ID	942
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:52) C0029442 \| osteomalacia \| 6 C0010690 \| cystinosis \| 5 C0026764 \| multiple myeloma \| 4 C0162283 \| nephrogenic diabetes insipidus \| 4 C0011848 \| diabetes insipidus \| 4 C0035579 \| rickets \| 4 C0011847 \| diabetes \| 4 C0026764 \| myeloma \| 3 C0019158 \| hepatitis \| 3 C0019163 \| hepatitis b \| 3 C0027707 \| interstitial nephritis \| 2 C0039730 \| thalassemia \| 2 C0033687 \| proteinuria \| 2 C0027697 \| nephritis \| 2 C0042164 \| uveitis \| 2 C0035078 \| renal failure \| 2 C0024299 \| lymphoma \| 2 C1136085 \| monoclonal gammopathy \| 1 C0022658 \| nephropathy \| 1 C0042870 \| vitamin d defic \| 1 C0019829 \| hodgkin's lymphoma \| 1 C0878544 \| cardiomyopathy \| 1 C0024305 \| non-hodgkin's lymphoma \| 1 C0041349 \| tubulo-interstitial nephritis \| 1 C0023418 \| leukemia \| 1 C0001339 \| acute pancreatitis \| 1 C1704375 \| hypophosphatemic rickets \| 1 C1565489 \| renal insufficiency \| 1 C1527336 \| sjogren syndrome \| 1 C0022661 \| end stage renal failure \| 1 C0022661 \| chronic kidney disease \| 1 C0024419 \| waldenstrom macroglobulinemia \| 1 C0042373 \| vascular disease \| 1 C0027709 \| nephrocalcinosis \| 1 C0019569 \| hirschsprung's disease \| 1 C0024790 \| paroxysmal nocturnal hemoglobinuria \| 1 C0042870 \| vitamin d deficiency \| 1 C0028860 \| lowe's syndrome \| 1 C0023448 \| lymphocytic leukemia \| 1 C0024419 \| macroglobulinemia \| 1 C0020459 \| hyperinsulinism \| 1 C0022658 \| kidney disease \| 1 C0019202 \| wilson's disease \| 1 C0019618 \| histiocytosis \| 1 C0019048 \| hemoglobinuria \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0036202 \| sarcoidosis \| 1 C0022660 \| acute renal failure \| 1 C1704375 \| hypophosphataemic rickets \| 1 C0030305 \| pancreatitis \| 1 C0041349 \| tubulointerstitial nephritis \| 1 C0023241 \| legionella pneumonia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 1497 \| CTNS \| CTD_human;ORPHANET;UNIPROT 6514 \| SLC2A2 \| CTD_human 6569 \| SLC34A1 \| CTD_human 2878 \| GPX3 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:68) 10257 \| ABCC4 \| 1.016 \| DISEASES 55811 \| ADCY10 \| 2.334 \| DISEASES 204 \| AK2 \| 2.16 \| DISEASES 205 \| AK4 \| 2.29 \| DISEASES 210 \| ALAD \| 3.325 \| DISEASES 229 \| ALDOB \| 2.704 \| DISEASES 567 \| B2M \| 2.978 \| DISEASES 617 \| BCS1L \| 1.97 \| DISEASES 7809 \| BSND \| 1.652 \| DISEASES 837 \| CASP4 \| 1.407 \| DISEASES 1038 \| CDR1 \| 1.238 \| DISEASES 1041 \| CDSN \| 1.316 \| DISEASES 1183 \| CLCN4 \| 2.303 \| DISEASES 1184 \| CLCN5 \| 5.439 \| DISEASES 1188 \| CLCNKB \| 1.401 \| DISEASES 1471 \| CST3 \| 2.064 \| DISEASES 1491 \| CTH \| 1.227 \| DISEASES 1497 \| CTNS \| 6.427 \| DISEASES 8029 \| CUBN \| 5.046 \| DISEASES 5167 \| ENPP1 \| 1.004 \| DISEASES 8087 \| FXR1 \| 1.786 \| DISEASES 2591 \| GALNT3 \| 1.851 \| DISEASES 2638 \| GC \| 2.485 \| DISEASES 2878 \| GPX3 \| 1.027 \| DISEASES 3633 \| INPP5B \| 2.374 \| DISEASES 56623 \| INPP5E \| 4.104 \| DISEASES 3758 \| KCNJ1 \| 1.211 \| DISEASES 9365 \| KL \| 1.397 \| DISEASES 3831 \| KLC1 \| 2.815 \| DISEASES 10724 \| MGEA5 \| 2.4 \| DISEASES 4514 \| MT-CO3 \| 1.107 \| DISEASES 4567 \| MT-TL1 \| 1.748 \| DISEASES 4694 \| NDUFA1 \| 1.81 \| DISEASES 137682 \| NDUFAF6 \| 3.962 \| DISEASES 9520 \| NPEPPS \| 1.523 \| DISEASES 4952 \| OCRL \| 5.951 \| DISEASES 5962 \| RDX \| 1.072 \| DISEASES 391 \| RHOG \| 2.091 \| DISEASES 3921 \| RPSA \| 1.537 \| DISEASES 10670 \| RRAGA \| 2.618 \| DISEASES 64121 \| RRAGC \| 2.923 \| DISEASES 6557 \| SLC12A1 \| 1.167 \| DISEASES 6559 \| SLC12A3 \| 2.275 \| DISEASES 10786 \| SLC17A3 \| 2.502 \| DISEASES 6575 \| SLC20A2 \| 1.648 \| DISEASES 116085 \| SLC22A12 \| 1.301 \| DISEASES 6582 \| SLC22A2 \| 1.761 \| DISEASES 9356 \| SLC22A6 \| 1.777 \| DISEASES 9376 \| SLC22A8 \| 1.542 \| DISEASES 10861 \| SLC26A1 \| 2.809 \| DISEASES 3177 \| SLC29A2 \| 1.776 \| DISEASES 6514 \| SLC2A2 \| 3.162 \| DISEASES 6569 \| SLC34A1 \| 4.287 \| DISEASES 10568 \| SLC34A2 \| 1.805 \| DISEASES 142680 \| SLC34A3 \| 1.75 \| DISEASES 64116 \| SLC39A8 \| 2.045 \| DISEASES 8671 \| SLC4A4 \| 2.657 \| DISEASES 6524 \| SLC5A2 \| 3.81 \| DISEASES 10250 \| SRRM1 \| 2.044 \| DISEASES 6736 \| SRY \| 3.037 \| DISEASES 29110 \| TBK1 \| 1.233 \| DISEASES 10732 \| TCFL5 \| 1.327 \| DISEASES 7018 \| TF \| 1.505 \| DISEASES 219623 \| TMEM26 \| 2.735 \| DISEASES 57393 \| TMEM27 \| 2.24 \| DISEASES 26276 \| VPS33B \| 2.16 \| DISEASES 9213 \| XPR1 \| 1.918 \| DISEASES 26137 \| ZBTB20 \| 2.017 \| DISEASES
Locus	(Waiting for update.)

Disease ID	942
Disease	fanconi syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:51) HP:0002749 \| Osteomalacia \| 7 HP:0009806 \| Nephrogenic diabetes insipidus \| 4 HP:0002748 \| Rickets \| 4 HP:0000873 \| Diabetes insipidus \| 4 HP:0000083 \| Renal insufficiency \| 3 HP:0012115 \| Liver inflammation \| 3 HP:0002148 \| Hypophosphataemia \| 3 HP:0003076 \| Glucosuria \| 3 HP:0200123 \| Chronic liver inflammation \| 3 HP:0001970 \| Interstitial nephritis \| 3 HP:0000123 \| Nephritis \| 3 HP:0006775 \| Multiple myeloma \| 3 HP:0002909 \| Generalized nonspecific aminoaciduria \| 2 HP:0002665 \| Lymphoma \| 2 HP:0003109 \| Hyperphosphaturia \| 2 HP:0003355 \| Aminoaciduria \| 2 HP:0000093 \| Proteinuria \| 2 HP:0000554 \| Uveitis \| 2 HP:0000114 \| Proximal tubular defect \| 1 HP:0002157 \| Azotaemia \| 1 HP:0000613 \| Extreme light sensitivity \| 1 HP:0002653 \| Bone pain \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0003641 \| Hemoglobin in urine \| 1 HP:0000117 \| Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate \| 1 HP:0001941 \| acidemia \| 1 HP:0001735 \| Acute pancreatitis \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0002150 \| Hypercalcinuria \| 1 HP:0000112 \| Nephropathy \| 1 HP:0100727 \| Histiocytosis \| 1 HP:0000103 \| Polyuria \| 1 HP:0001324 \| Muscular weakness \| 1 HP:0001909 \| Leukemia \| 1 HP:0012531 \| Pain \| 1 HP:0007099 \| Arnold Chiari type I malformation \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0005550 \| Chronic lymphatic leukemia \| 1 HP:0002090 \| Pneumonia \| 1 HP:0001508 \| Weight faltering \| 1 HP:0003126 \| Tubular proteinuria \| 1 HP:0004912 \| Hypophosphatemic rickets \| 1 HP:0000121 \| Nephrocalcinosis \| 1 HP:0005508 \| Waldenstrom macroglobulinemia \| 1 HP:0001995 \| Hyperchloremic acidosis \| 1 HP:0004818 \| Paroxysmal nocturnal hemoglobinuria \| 1 HP:0001733 \| Pancreatic inflammation \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0012622 \| Chronic kidney disease \| 1 HP:0001638 \| Cardiomyopathy \| 1

Disease ID	942
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 \| 7 C0035579 \| rickets \| 3 C0026764 \| multiple myeloma \| 3 C0033687 \| proteinuria \| 2 C0035078 \| renal failure \| 2 C0026764 \| myeloma \| 1

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

Text Mining Genotype(Total 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.)

Disease ID	942
Disease	fanconi syndrome
Case	(Waiting for update.)

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