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Details
Link-It Detail - Disease - Bartter Syndrome
Debug Stats
  • ### Total Build Time: 57 ms 42.260 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 518 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=9 ms Completed: 9 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1,010 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 6.776 KB
  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 13.243 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 19.057 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Bartter Syndrome C0004775
Definition (1)
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Renal Tubular Transport, Inborn Errors C0035091
img Hyperaldosteronism C0020428
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Renal Tubular Transport, Inborn Errors C0035091
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Renal Tubular Transport, Inborn Errors C0035091
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Renal Tubular Transport, Inborn Errors C0035091
img Male Urogenital Diseases C1720894img Urologic Diseases C00420755img Renal Tubular Transport, Inborn Errors C0035091
img Endocrine System Diseases C0014130img Adrenal Gland Diseases C00016215img Hyperaldosteronism C0020428
Relationships (43)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 22
diso_​to_​diso : 16
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 20
classifies : 1
clinically_​similar : 1
mapped_​to : 4
may_​treat : 14
permuted_​term_​of : 1
use : 2
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN60img genetic aspects C0017399
DISO_to_PHEN50img genetic aspects C0017399
DISO_to_DISO39img Complication Aspects C1171258
DISO_to_DISO38img Complication Aspects C1171258
DISO_to_DISO28img Gitelman Syndrome C0268450
DISO_to_CHEM17img Chloride Channels C0055363
DISO_to_DISO16img Hypokalemia C0020621
DISO_to_CHEM12img Chloride Channels C0055363
DISO_to_CHEM12img Membrane Associated Proteins C0025252
DISO_to_PHYS12img Mutation C0026882
DISO_to_ANAT8img In Blood C0005768
DISO_to_CHEM8img Anion Transport Proteins C0051913
DISO_to_DISO8img Hypertension C0020538
DISO_to_ANAT7img In Blood C0005768
DISO_to_CHEM7img Angiotensin II C0003009
DISO_to_CHEM7img Cotransporter, NaCl-KCl C0074777
DISO_to_CHEM7img Potassium Channels, Inwardly Rectifying C0214230
DISO_to_CHEM7img Sodium-Potassium-Chloride Symporters C0074777
DISO_to_DISO7img Hypokalemia C0020621
DISO_to_DISO7img Kidney Diseases C0022658
DISO_to_CHEMmay_treatimg CAPTOPRIL 100 MG ORAL TABLET C0975226
DISO_to_CHEMmay_treatimg CAPTOPRIL 12.5 MG ORAL TABLET C0975227
DISO_to_CHEMmay_treatimg CAPTOPRIL 25 MG ORAL TABLET C0991765
DISO_to_CHEMmay_treatimg CAPTOPRIL 50 MG ORAL TABLET C0975229
DISO_to_CHEMmay_treatimg Captopril C0006938
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanBSND7809Bartter syndrome, infantile, with sensorineural deafness (Barttin)
img GENERIF, Score=694, Pubmed Id: 18094726, UMLKSK CUI: C0004775
img GENERIF, Score=901, Pubmed Id: 16572343, UMLKSK CUI: C0004775
img GENERIF, Score=1000, Pubmed Id: 12761627, UMLKSK CUI: C0004775
img OMIM, Score=833, UMLKSK CUI: C0004775
img GENERIF, Score=694, Pubmed Id: 18776122, UMLKSK CUI: C0004775
img GENERIF, Score=901, Pubmed Id: 16773427, UMLKSK CUI: C0004775
HumanSLC12A36559solute carrier family 12 (sodium/chloride transporter), member 3
img OMIM, Score=833, UMLKSK CUI: C0004775
img OMIM, Score=1000, UMLKSK CUI: C0004775
HumanSLC12A16557solute carrier family 12 (sodium/potassium/chloride transporter), member 1
img OMIM, Score=806, UMLKSK CUI: C0004775
img GENERIF, Score=1000, Pubmed Id: 16807401, UMLKSK CUI: C0004775
img GENERIF, Score=660, Pubmed Id: 17998760, UMLKSK CUI: C0004775
HumanSCNN1G6340sodium channel, non-voltage-gated 1, gamma subunit
img OMIM, Score=1000, UMLKSK CUI: C0004775
HumanSCNN1B6338sodium channel, non-voltage-gated 1, beta subunit
img OMIM, Score=1000, UMLKSK CUI: C0004775
HumanRGS25997regulator of G-protein signaling 2, 24kDa
img GENERIF, Score=1000, Pubmed Id: 18398336, UMLKSK CUI: C0004775
HumanKCNJ13758potassium inwardly-rectifying channel, subfamily J, member 1
img GENERIF, Score=734, Pubmed Id: 17401586, UMLKSK CUI: C0004775
img OMIM, Score=806, UMLKSK CUI: C0004775
img GENERIF, Score=694, Pubmed Id: 12589089, UMLKSK CUI: C0004775
HumanCYP17A11586cytochrome P450, family 17, subfamily A, polypeptide 1
img OMIM, Score=1000, UMLKSK CUI: C0004775
HumanCLCNKB1188chloride channel, voltage-sensitive Kb
img GENERIF, Score=861, Pubmed Id: 11865110, UMLKSK CUI: C0004775
img GENERIF, Score=861, Pubmed Id: 17622951, UMLKSK CUI: C0004775
img GENERIF, Score=1000, Pubmed Id: 12472765, UMLKSK CUI: C0004775
img OMIM, Score=833, UMLKSK CUI: C0004775
img GENERIF, Score=1000, Pubmed Id: 16902263, UMLKSK CUI: C0004775
HumanCLCNKA1187chloride channel, voltage-sensitive Ka
img OMIM, Score=833, UMLKSK CUI: C0004775
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0004775Bartter Syndrome0self