DiseaseID 7584
吉特尔曼综合征
disease
NCI2016_NICHD_1602D:An inherited disorder caused by mutations in the SLC12A3 gene, characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic meta
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Disease: 1Symptom: 11Target: 18Links: 35
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 7584
- Core Entity Id
- 64404
- Source Entity Count
- 1
- Preferred Name
- Gitelman Syndrome
- Name Cn
- 吉特尔曼综合征
- Name Pinyin
- Ji Te Er Man Zong He Zheng
- Name En
- Gitelman Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- NCI2016_NICHD_1602D:An inherited disorder caused by mutations in the SLC12A3 gene, characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.|NCI2016_02D:An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.|MSH2017_2016_08_12: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.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Gitelman Syndrome
Role
preferred
Name
GTLMNS
Role
alias
Name
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
Role
alias
Name
POTASSIUM AND MAGNESIUM DEPLETION
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006317
Me Sh
D053579
Omim
263800
Umls
C0268450
Sym Map
SMDE00072
Do Class
DOID:630DOID:7
Dis Ge Net
C0268450
Umls Sty
T047
Me Sh Class
C12C13C16
Etcm Disease
Gitelman Syndrome
Tcmbank Disease
1765
Itcmdb Generated
ITX-DISEASE-595DDB68DEBD
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Gitelman Syndrome Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Gitelman Syndrome
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Nephrological diseases
Disease Definition
NCI2016_NICHD_1602D:An inherited disorder caused by mutations in the SLC12A3 gene, characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.|NCI2016_02D:An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.|MSH2017_2016_08_12: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.
Me Sh Disease Class
Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Umls Semantic Type Name
Disease or Syndrome