DiseaseID 4551
高亮氨酸血症
disease
HPO2016_07_04:An increased concentration of leucine in the blood. [HPO:gcarletti]
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Disease: 1Symptom: 10Target: 21Links: 34
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4551
- Core Entity Id
- 60917
- Source Entity Count
- 1
- Preferred Name
- Hyperleucinemia
- Name Cn
- 高亮氨酸血症
- Name Pinyin
- Gao Liang An Suan Xue Zheng
- Name En
- Hyperleucinemia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Hemic and Lymphatic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasis
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesHemic and Lymphatic Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- HPO2016_07_04:An increased concentration of leucine in the blood. [HPO:gcarletti]
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hyperleucinemia
Role
preferred
Name
Classic Maple Syrup Urine Disease
Role
preferred
Name
Intermediate Maple Syrup Urine Disease
Role
preferred
Name
Intermittent Maple Syrup Urine Disease
Role
preferred
Name
Maple Syrup Urine Disease
Role
preferred
Name
Maple Syrup Urine Disease, Mild Variant
Role
preferred
Name
Maple Syrup Urine Disease, Thiamine Responsive
Role
preferred
Name
Maple Syrup Urine Disease, Type Ia
Role
preferred
Name
Maple Syrup Urine Disease, Type Ii
Role
preferred
Name
Maple Syrup Urine Disease, Type 1A
Role
preferred
Name
Maple Syrup Urine Disease, Type 1B
Role
preferred
Name
Methemoglobinemia, Type I
Role
preferred
Name
Methemoglobinemia, Type Ii
Role
preferred
Name
NADH cytochrome B5 reductase deficiency
Role
preferred
Name
Nadh-Cytochrome B5 Reductase Deficiency, Type I
Role
preferred
Name
Nadh-Cytochrome B5 Reductase Deficiency, Type Ii
Role
preferred
Name
BCKD DEFICIENCY
Role
alias
Name
BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
Role
alias
Name
BRANCHED-CHAIN KETOACIDURIA
Role
alias
Name
Dihydrolipoamide Dehydrogenase Deficiency
Role
alias
Name
High Blood Leucine Concentration
Role
alias
Name
KETO ACID DECARBOXYLASE DEFICIENCY
Role
alias
Name
MAPLE SYRUP URINE DISEASE, CLASSIC
Role
alias
Name
MAPLE SYRUP URINE DISEASE, INTERMEDIATE
Role
alias
Name
MAPLE SYRUP URINE DISEASE, INTERMITTENT
Role
alias
Name
MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE
Role
alias
Name
MAPLE SYRUP URINE DISEASE, TYPE IB
Role
alias
Name
MSUD
Role
alias
Name
MSUD1A
Role
alias
Name
MSUD1B
Role
alias
Name
MSUD2
Role
alias
Name
MSUDMV
Role
alias
Name
Maple Syrup Urine Disease, Type 2
Role
alias
Name
Methemoglobinemia Due To Deficiency of Methemoglobin Reductase
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0010911
Herb
HBDIS001855HBDIS006211HBDIS006360HBDIS006361HBDIS006365HBDIS011224HBDIS014662HBDIS017148HBDIS017149HBDIS019803HBDIS019804HBDIS019805HBDIS019806HBDIS020184HBDIS020185HBDIS021872
Me Sh
D008375
Omim
246900248600250800615135
Umls
C0024776C0268568C0268569C0268576C0751285C1621920C1855369C1855371C2930990C3554575
Icd10
E71.0
Sym Map
SMDE00223SMDE03854SMDE07238SMDE09623SMDE09970SMDE09973SMDE10723SMDE10724SMDE10725SMDE10962SMDE10963SMDE11275SMDE11276
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0024776C0268193C0268568C0268569C0268576C0751285C1621920C1855369C1855371C2749559C2749560C2749561C2749562C2930989C2930990C3554575
Umls Sty
T047
Hpo Class
HP:0001939
Me Sh Class
C10C15C16C18
Etcm Disease
Maple Syrup Urine DiseaseMaple Syrup Urine Disease, Mild Variant
Tcmbank Disease
1160713101143211785718087190682004222671246422612617226488270829020305759846
Itcmdb Generated
ITX-DISEASE-72173E3F6FB1ITX-DISEASE-B4F588EFAB4DITX-DISEASE-C0FCA36C8E48ITX-DISEASE-F179F5986556
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Maple Syrup Urine Disease Details pageDisease Maple Syrup Urine Disease, Mild Variant Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of metabolism/homeostasis
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Maple Syrup Urine Disease
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Mental diseases;Nephrological diseases;Neuronal diseases
Disease Name
Maple Syrup Urine Disease, Mild Variant
Global Category
Genetic diseases;Metabolic diseases
Anatomical Category
Nephrological diseases;Neuronal diseases
Disease Definition
HPO2016_07_04:An increased concentration of leucine in the blood. [HPO:gcarletti]NCI2016_02D:An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.|MSH2017_2016_08_12:An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)|CSP2006:autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids; metabolites accumulate in body fluids and render a "maple syrup" odor; divided into classic, intermediate, intermittent, and thiamine responsive subtypes; classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia; the intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting.
Me Sh Disease Class
Hemic and Lymphatic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesHemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome