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Details
Link-It Detail - Disease - Gitelman Syndrome
Debug Stats
  • ### Total Build Time: 204 ms 33.334 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 490 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=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=10 ms Completed: 10 ms rowSize= 574 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.497 KB
  • CONCEPT_RELATIONSHIPS gt=142 ms Completed: 142 ms rowSize= 12.970 KB
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 12.134 KB
  • CONCEPT_XREFS gt=20 ms Completed: 20 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Gitelman Syndrome C0268450
Definition (1)
An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Renal Tubular Transport, Inborn Errors C0035091
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
Relationships (28)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 22
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 9
manifestation_​of : 17
mapped_​to : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN68img genetic aspects C0017399
DISO_to_DISO39img Complication Aspects C1171258
DISO_to_CHEM33img DRUG RECEPT C0034799
DISO_to_CHEM33img Receptors, Drug C0034799
DISO_to_CHEM33img Symporters C0598849
DISO_to_DISO28img Bartter Syndrome C0004775
DISO_to_DISO22img Hypokalemia C0020621
DISO_to_PHYS16img Mutation C0026882
DISO_to_ANAT10img In Blood C0005768
DISO_to_DISOmanifestation_ofimg Caused by mutation in the thiazide-sensitive Na-Cl cotransporter (SLC12A3, 600968.0001) C2749386
DISO_to_DISOmanifestation_ofimg Generalized muscle weakness C0746674
DISO_to_DISOpermuted_term_ofimg Gitelman Syndrome C0268450
DISO_to_DISOmanifestation_ofimg HOMG2 C1835171
DISO_to_DISOmanifestation_ofimg HYPOMAGNESAEMIA C0151723
DISO_to_DISOmanifestation_ofimg Hypocalciuria C0020599
DISO_to_DISOmanifestation_ofimg Hypokalemia C0020621
DISO_to_DISOmanifestation_ofimg Hypokalemic alkalosis C0085570
DISO_to_DISOmanifestation_ofimg Increased plasma renin C1846346
DISO_to_DISOmanifestation_ofimg Increased urine volume C0032617
DISO_to_DISOmanifestation_ofimg Muscle Cramp C0026821
DISO_to_DISOmanifestation_ofimg Onset in childhood (later than in antenatal Bartter syndrome 241200) C1849704
DISO_to_DISOmanifestation_ofimg Paralysis, episodic, after strenuous exercise C2749385
DISO_to_DISOmanifestation_ofimg Paresthesia C0030554
DISO_to_DISOmanifestation_ofimg Polydipsia C0085602
DISO_to_DISOmapped_toimg Potassium and magnesium depletion C2930816
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanSLC12A36559solute carrier family 12 (sodium/chloride transporter), member 3
img GENERIF, Score=840, Pubmed Id: 17654016, UMLKSK CUI: C0268450
img GENERIF, Score=1000, Pubmed Id: 18362449, UMLKSK CUI: C0268450
img GAD, Score=1000, Pubmed Id: 15069170, UMLKSK CUI: C0268450
img GENERIF, Score=1000, Pubmed Id: 17873326, UMLKSK CUI: C0268450
img GENERIF, Score=734, Pubmed Id: 17159356, UMLKSK CUI: C0268450
img GENERIF, Score=1000, Pubmed Id: 18469313, UMLKSK CUI: C0268450
img GENERIF, Score=1000, Pubmed Id: 17329572, UMLKSK CUI: C0268450
img GENERIF, Score=1000, Pubmed Id: 17954289, UMLKSK CUI: C0268450
img GENERIF, Score=1000, Pubmed Id: 14675033, UMLKSK CUI: C0268450
img GENERIF, Score=1000, Pubmed Id: 15102966, UMLKSK CUI: C0268450
img GENERIF, Score=734, Pubmed Id: 12686679, UMLKSK CUI: C0268450
img GENERIF, Score=717, Pubmed Id: 17981812, UMLKSK CUI: C0268450
img GENERIF, Score=1000, Pubmed Id: 16221718, UMLKSK CUI: C0268450
HumanRGS25997regulator of G-protein signaling 2, 24kDa
img GENERIF, Score=734, Pubmed Id: 18398336, UMLKSK CUI: C0268450
HumanPVALB5816parvalbumin
img GENERIF, Score=1000, Pubmed Id: 18469313, UMLKSK CUI: C0268450
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268450Gitelman Syndrome0self