DiseaseID 1136
磺基半胱氨酸尿症
disease
Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
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Disease: 1Formula: 21Herb: 1Symptom: 12Target: 23Links: 58
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 1136
- Core Entity Id
- 1283
- Source Entity Count
- 1
- Preferred Name
- Sulfocysteinuria
- Name Cn
- 磺基半胱氨酸尿症
- Name Pinyin
- Huang Ji Ban Guang An Suan Niao Zheng
- Name En
- Sulfocysteinuria
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsNervous System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasisAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasisAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Sulfocysteinuria
Role
preferred
Name
Cystathioninuria
Role
preferred
Name
Homocystinuria, Cbld Type, Variant 1
Role
preferred
Name
Hypermethioninemia
Role
preferred
Name
Hypermethioninemia Due To Adenosine Kinase Deficiency
Role
preferred
Name
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Role
preferred
Name
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Role
preferred
Name
Methylmalonic Acidemia, Cblh Type, Formerly
Role
preferred
Name
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Role
preferred
Name
Methylmalonic Aciduria, Cbld Type, Variant 2
Role
preferred
Name
Methylmalonic Aciduria, Cblh Type, Formerly
Role
preferred
Name
Classic Homocystinuria
Role
preferred
Name
Cystathionase Deficiency
Role
preferred
Name
Disorder of Sulfur-Bearing Amino Acid Metabolism
Role
preferred
Name
Gamma-Cystathionase Deficiency
Role
preferred
Name
Hepatic Methionine Adenosyltransferase Deficiency
Role
preferred
Name
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Role
preferred
Name
Hypermethioninemia Due To Deficiency of Glycine N-Methyltransferase
Role
preferred
Name
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
Role
preferred
Name
Methylmalonic Acidemia With Homocystinuria
Role
preferred
Name
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Role
preferred
Name
S-Adenosylhomocysteine Hydrolase Deficiency
Role
preferred
Name
Sulfite Oxidase Deficiency
Role
preferred
Name
CblC Defect
Role
alias
Name
CblD Defect
Role
alias
Name
Cobalamin C Defect
Role
alias
Name
Cobalamin D Defect
Role
alias
Name
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type CblC
Role
alias
Name
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type CblD
Role
alias
Name
Disorders of Sulfur-Bearing Amino-Acid Metabolism
Role
alias
Name
Glycine N-Methyltransferase Deficiency
Role
alias
Name
High Urine Cystathionine Levels
Role
alias
Name
Hypermethioninemia With Deficiency of S-Adenosylhomocysteine Hydrolase
Role
alias
Name
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Role
alias
Name
Increased Methionine In Blood
Role
alias
Name
Isolated Sulfite Oxidase Deficiency
Role
alias
Name
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8, FORMERLY
Role
alias
Name
METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, CblD TYPE METHYLMALONIC ACIDURIA, CblH TYPE, FORMERLY
Role
alias
Name
MRT8, FORMERLY
Role
alias
Name
Mahcc
Role
alias
Name
Mat Deficiency
Role
alias
Name
Methionine Adenosyltransferase I/Iii Deficiency
Role
alias
Name
Methioninemia
Role
alias
Name
Methylmalonic Aciduria And Homocystinuria Type Cblc
Role
alias
Name
Methylmalonic Aciduria And Homocystinuria Type Cbld
Role
alias
Name
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Role
alias
Name
Methylmalonic Aciduria With Homocystinuria, Type CblC
Role
alias
Name
Methylmalonic Aciduria With Homocystinuria, Type CblD
Role
alias
Name
Molybdenum Cofactor Deficiency
Role
alias
Name
Sulfite Oxidase Deficiency, Isolated
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0003153HP:0003235HP:0003643
Herb
HBDIS004543HBDIS006379HBDIS006381HBDIS006383HBDIS006385HBDIS016407HBDIS016475HBDIS020342HBDIS020748HBDIS021294HBDIS021509HBDIS025315HBDIS027599HBDIS028877HBDIS028878HBDIS028879
Omim
219500250850272300277400277410606664613752614300
Umls
C0220993C0268624C0751202C1848552C1848553C1848554C1848578C1856057C2678262C2678263C2931746C3280381C3495552C4048705
Icd10
E72.1
Med Dra
10071093
Sym Map
SMDE00234SMDE00269SMDE01182SMDE02246SMDE02570SMDE02664SMDE02911SMDE04084SMDE05161SMDE09531SMDE09629SMDE10964SMDE10965SMDE10966
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0220993C0268613C0268616C0268621C0268624C1847720C1848552C1848553C1848554C1848561C2931746C3151058C3280381C3495552C4048705C4693974
Orphanet
2169394792827928379284
Umls Sty
T047
Hpo Class
HP:0000119HP:0001939
Me Sh Class
C10C16C17C18C23
Etcm Disease
CystathioninuriaHomocystinuria-Megaloblastic Anemia, Cble Complementation TypeHypermethioninemia Due to Adenosine Kinase DeficiencyMethylmalonic Acidemia with HomocystinuriaMethylmalonic Aciduria and Homocystinuria, Cbld TypeMethylmalonic Aciduria and Homocystinuria, Cblf Type
Tcmbank Disease
152391829222093237332380724450265927475294783102531030311023234351725620
Itcmdb Generated
ITX-DISEASE-0144676D5B42ITX-DISEASE-03E8C47FAEAEITX-DISEASE-081E0572ECB5ITX-DISEASE-1BE385E73050ITX-DISEASE-202CDBE4AFCEITX-DISEASE-2CE78E1784C4ITX-DISEASE-492049911EDEITX-DISEASE-4C18B184DE19ITX-DISEASE-4C73D6129C5EITX-DISEASE-89B247EB7FE6ITX-DISEASE-AE7EF94B665FITX-DISEASE-C3B7724235C0ITX-DISEASE-C4505DC50B68ITX-DISEASE-F4973CB85052
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Cystathioninuria Details pageDisease Homocystinuria-Megaloblastic Anemia, Cble Complementation Type Details pageDisease Hypermethioninemia Due to Adenosine Kinase Deficiency Details pageDisease Methylmalonic Acidemia with Homocystinuria Details pageDisease Methylmalonic Aciduria and Homocystinuria, Cbld Type Details pageDisease Methylmalonic Aciduria and Homocystinuria, Cblf Type Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of metabolism/homeostasisAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasisAbnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Cystathioninuria
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Nephrological diseases
Disease Name
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Neuronal diseases
Disease Name
Hypermethioninemia Due to Adenosine Kinase Deficiency
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Methylmalonic Acidemia with Homocystinuria
Global Category
Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Mental diseases;Neuronal diseases
Disease Name
Methylmalonic Aciduria and Homocystinuria, Cbld Type
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Nephrological diseases;Neuronal diseases
Disease Name
Methylmalonic Aciduria and Homocystinuria, Cblf Type
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases
Disease Definition
Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.HPO2016_07_04:Abnormally reduced sulfite oxidase activity. [HPO:probinson]cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megcblD type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by var
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsNervous System Diseases; Skin and Connective Tissue 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 DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome