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	bartter disease

Disease ID	1413
Disease	bartter disease
Definition	transmitted as an autosomal recessive trait; characterized by hypertrophy and hyperplasia of the juxtaglomerular cells, and increased concentrations of renin, angiotensin II, and aldosterone in the absence of edema and hypertension.
Synonym	aldosteronism with hyperplasia of the adrenal cortex barter's disease barters disease bartter dis bartter syndrome bartter syndrome (disorder) bartter syndrome [disease/finding] bartter's disease bartter's syndrome bartters dis bartters disease bartters syndrome bartters's syndrome disease bartter's hypokalemic alkalosis juxtaglomerular hyperplasia with secondary aldosteronism pseudoprimary hyperaldosteronism syndrome, bartter syndrome, bartter's
Orphanet	ORPHANET:112
DOID	DOID:445
ICD10	ICD10CM:E26.81
UMLS	C0004775
MeSH	D001477
SNOMED-CT	SNOMEDCT_US_2016_09_01:707742001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:17) C0155550 \| neural deafness \| 2 C0020538 \| hypertension \| 2 C0010674 \| cystic fibrosis \| 2 C0010690 \| cystinosis \| 2 C0018784 \| sensorineural deafness \| 2 C0038220 \| status epilepticus \| 1 C0162283 \| nephrogenic diabetes insipidus \| 1 C0013473 \| eating disorder \| 1 C0268450 \| gitelman's syndrome \| 1 C0206754 \| neuroendocrine tumor \| 1 C0022658 \| nephropathies \| 1 C0268450 \| gitelman syndrome \| 1 C0013473 \| eating disorders \| 1 C0008350 \| gall stone \| 1 C0035078 \| renal failure \| 1 C0013338 \| growth hormone deficiency \| 1 C0027709 \| nephrocalcinosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 5972 \| REN \| CTD_human 1188 \| CLCNKB \| CTD_human;GHR;UNIPROT;UniProtKB-KW 1187 \| CLCNKA \| GHR;UNIPROT;UniProtKB-KW 3758 \| KCNJ1 \| CTD_human;GHR;UNIPROT;UniProtKB-KW 7809 \| BSND \| GHR;UNIPROT;UniProtKB-KW 10916 \| MAGED2 \| UniProtKB-KW 6557 \| SLC12A1 \| CTD_human;GHR;UNIPROT;UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:57) 55811 \| ADCY10 \| 2.865 \| DISEASES 120 \| ADD3 \| 1.458 \| DISEASES 115557 \| ARHGEF25 \| 2.699 \| DISEASES 480 \| ATP1A4 \| 1.345 \| DISEASES 481 \| ATP1B1 \| 2.035 \| DISEASES 551 \| AVP \| 4.351 \| DISEASES 554 \| AVPR2 \| 2.557 \| DISEASES 7809 \| BSND \| 6.874 \| DISEASES 846 \| CASR \| 4.488 \| DISEASES 875 \| CBS \| 2.792 \| DISEASES 1180 \| CLCN1 \| 3.478 \| DISEASES 1184 \| CLCN5 \| 4.563 \| DISEASES 1186 \| CLCN7 \| 3.036 \| DISEASES 1187 \| CLCNKA \| 6.241 \| DISEASES 1188 \| CLCNKB \| 7.495 \| DISEASES 1195 \| CLK1 \| 2.505 \| DISEASES 51428 \| DDX41 \| 2.521 \| DISEASES 1837 \| DTNA \| 1.38 \| DISEASES 83715 \| ESPN \| 1.823 \| DISEASES 22862 \| FNDC3A \| 1.471 \| DISEASES 2710 \| GK \| 1.464 \| DISEASES 3614 \| IMPDH1 \| 1.458 \| DISEASES 3615 \| IMPDH2 \| 1.516 \| DISEASES 3758 \| KCNJ1 \| 7.218 \| DISEASES 3766 \| KCNJ10 \| 2.363 \| DISEASES 3772 \| KCNJ15 \| 2.321 \| DISEASES 3778 \| KCNMA1 \| 1.488 \| DISEASES 9622 \| KLK4 \| 4.018 \| DISEASES 8972 \| MGAM \| 2.016 \| DISEASES 23327 \| NEDD4L \| 1.019 \| DISEASES 4886 \| NPY1R \| 1.126 \| DISEASES 4306 \| NR3C2 \| 1.51 \| DISEASES 27445 \| PCLO \| 1.109 \| DISEASES 5743 \| PTGS2 \| 1.528 \| DISEASES 5999 \| RGS4 \| 1.114 \| DISEASES 6337 \| SCNN1A \| 2.491 \| DISEASES 6338 \| SCNN1B \| 1.407 \| DISEASES 6446 \| SGK1 \| 1.46 \| DISEASES 10110 \| SGK2 \| 2.603 \| DISEASES 6557 \| SLC12A1 \| 7.013 \| DISEASES 6559 \| SLC12A3 \| 6.4 \| DISEASES 57468 \| SLC12A5 \| 2.541 \| DISEASES 9990 \| SLC12A6 \| 2.582 \| DISEASES 84561 \| SLC12A8 \| 2.897 \| DISEASES 6582 \| SLC22A2 \| 1.349 \| DISEASES 9356 \| SLC22A6 \| 1.365 \| DISEASES 9376 \| SLC22A8 \| 1.13 \| DISEASES 1811 \| SLC26A3 \| 3.254 \| DISEASES 6569 \| SLC34A1 \| 1.448 \| DISEASES 142680 \| SLC34A3 \| 2.796 \| DISEASES 8428 \| STK24 \| 2.038 \| DISEASES 27347 \| STK39 \| 2.105 \| DISEASES 6888 \| TALDO1 \| 3.471 \| DISEASES 140803 \| TRPM6 \| 1.285 \| DISEASES 116461 \| TSEN15 \| 2.997 \| DISEASES 283989 \| TSEN54 \| 1.991 \| DISEASES 65267 \| WNK3 \| 2.175 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1413
Disease	bartter disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:25) HP:0002900 \| Hypokalemia \| 4 HP:0000365 \| Hearing impairment \| 3 HP:0002901 \| Hypocalcemia \| 3 HP:0000822 \| Hypertension \| 2 HP:0001948 \| Alkalosis \| 2 HP:0000127 \| Salt wasting \| 2 HP:0001510 \| Growth deficiency \| 2 HP:0001508 \| Weight faltering \| 2 HP:0000103 \| Polyuria \| 2 HP:0000407 \| sensorineural hearing loss \| 2 HP:0200114 \| Metabolic alkalosis \| 2 HP:0003127 \| Low urine calcium levels \| 1 HP:0009806 \| Nephrogenic diabetes insipidus \| 1 HP:0011102 \| Ileal atresia \| 1 HP:0002664 \| Neoplasia \| 1 HP:0002153 \| Elevated serum potassium levels \| 1 HP:0002150 \| Hypercalcinuria \| 1 HP:0002273 \| Tetraparesis \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0002133 \| Status epilepticus \| 1 HP:0100754 \| Mania \| 1 HP:0000121 \| Nephrocalcinosis \| 1 HP:0003527 \| Hyperprostaglandinuria \| 1 HP:0000824 \| Growth hormone deficiency \| 1 HP:0000083 \| Renal insufficiency \| 1

Disease ID	1413
Disease	bartter disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0011053 \| deafness \| 3 C0020538 \| hypertension \| 2 C0027709 \| nephrocalcinosis \| 1 C0235394 \| wasting \| 1

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

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

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909132	24058621	1188	CLCNKB	umls:C0004775	BeFree	The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a founder mutation that causes most of type III Bartter syndrome cases in Spain.	0.138779147	2013	CLCNKB	1	16048537	G	A
rs121909136	15717167	1188	CLCNKB	umls:C0004775	BeFree	Direct sequencing analysis of the chloride channel CLC-Kb gene identified a heterozygous nonsense mutation (W610X) in exon 16 indicating a diagnosis of Bartter syndrome type III.	0.138779147	2005	CLCNKB	1	16055508	G	A
rs121909136	23772144	1188	CLCNKB	umls:C0004775	BeFree	BS III is the most common genotype in Korean patients with BS and W610X is the most common CLCNKB mutation in Korean BS III.	0.138779147	2013	CLCNKB	1	16055508	G	A
rs74315289	21269598	7809	BSND	umls:C0004775	BeFree	Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.	0.018236263	2011	BSND	1	54999325	G	A
rs74315289	16572343	7809	BSND	umls:C0004775	BeFree	Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.	0.018236263	2006	BSND	1	54999325	G	A

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	1413
Disease	bartter disease
Case	(Waiting for update.)

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