DiseaseID 3423
Liddle综合征
disease
Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.
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Disease: 1Formula: 12Herb: 12Symptom: 10Target: 24Links: 58
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3423
- Core Entity Id
- 59628
- Source Entity Count
- 1
- Preferred Name
- Liddle Syndrome
- Name Cn
- Liddle综合征
- Name Pinyin
- Liddle Zong He Zheng
- Name En
- Liddle 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 ComplicationsMale Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
- 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 DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Liddle Syndrome
Role
preferred
Name
Bartter Disease
Role
preferred
Name
Bartter Syndrome
Role
alias
Name
Liddle Syndrome 1
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000303HBDIS004565
Me Sh
D001477D056929
Omim
177200
Umls
C0004775C0221043
Icd10
E26.81I15.1
Med Dra
1003711310052313
Sym Map
SMDE00808SMDE06278
Do Class
DOID:630DOID:7
Dis Ge Net
C0004775C0221043
Orphanet
526
Umls Sty
T047
Me Sh Class
C12C13C16C19
Etcm Disease
Bartter Disease
Tcmbank Disease
155683224832321
Itcmdb Generated
ITX-DISEASE-AEF0FFE15E32ITX-DISEASE-B2E1611C2250
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Bartter Disease 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
Bartter Disease
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Ear diseases;Nephrological diseases
Disease Definition
Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.NCI2016_NICHD_1602D:A rare, inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Affected individuals have high concentration of plasma renin that is not associated with hypertension.|NCI2016_02D:A rare inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Patients have high levels of plasma renin concentration which is not associated with hypertension.|MSH2017_2016_08_12: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.|JABL99:Hypertrophy and hyperplasia of the juxtaglomerular apparatus with secondary hyperaldosteronism with normal blood pressure and hyperkalemic alkalosis in the absence of edema. Most patients show growth and mental retardation. Nephrocalcinosis and hypercalcinuria occur in some cases. Diuretic abuse may produce a syndrome with similar characteristics (pseudo-Bartter or factitious Bartter syndrome).|CSP2006: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.
Me Sh Disease Class
Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy ComplicationsMale Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
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 DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Umls Semantic Type Name
Disease or Syndrome