DiseaseID 15427
同型胱氨酸尿症
disease
NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficie
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Symptom: 10Target: 12Links: 22
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15427
- Core Entity Id
- 73360
- Source Entity Count
- 1
- Preferred Name
- Homocystinuria
- Name Cn
- 同型胱氨酸尿症
- Name Pinyin
- Tong Xing Guang An Suan Niao Zheng
- Name En
- Homocystinuria
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous 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/homeostasis; Abnormality of the genitourinary system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.|MSH2017_2016_08_12:Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)|HPO2016_07_04:An increased concentration of homocystine in the urine. [HPO:gcarletti]|CSP2006:autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of cystathionine beta-synthase and associated with elevations of homocysteine in plasma and urine; clinical features include a tall, slender habitus, scoliosis, arachnodactyly, muscle weakness, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of mental retardation, and a tendency to develop fibrosis of arteries, frequently complicated by cerebrovascular accidents and myocardial infarction.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Homocystinuria
Role
preferred
Name
Cbs Gene
Role
preferred
Name
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Role
preferred
Name
Mthfr Deficiency, Thermolabile Type
Role
preferred
Name
Cystathionine Beta-Synthase Deficiency Disease
Role
preferred
Name
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Role
preferred
Name
Cystathionine Beta-Synthase Deficiency
Role
alias
Name
High Urine Homocystine Levels
Role
alias
Name
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Role
alias
Name
METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
Role
alias
Name
MTHFR DEFICIENCY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002156
Herb
HBDIS001392HBDIS011193HBDIS017254HBDIS017255HBDIS020626
Me Sh
D006712
Omim
236200236250
Umls
C0019880C1439329C1856058C1856059
Icd10
E72.11
Sym Map
SMDE03295SMDE06830SMDE09530SMDE09615SMDE11109
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0019880C0751202C1856058C1856059C3150344
Umls Sty
T047
Hpo Class
HP:0000119HP:0001939
Me Sh Class
C10C16C17C18
Tcmbank Disease
1560017391306382298769714
Itcmdb Generated
ITX-DISEASE-1A9B0EA78C33ITX-DISEASE-ACA4CFAE47BCITX-DISEASE-D76B7DB18BCBITX-DISEASE-F8821B1A24EE
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Hpo Class Name
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_02D:An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.|MSH2017_2016_08_12:Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)|HPO2016_07_04:An increased concentration of homocystine in the urine. [HPO:gcarletti]|CSP2006:autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of cystathionine beta-synthase and associated with elevations of homocysteine in plasma and urine; clinical features include a tall, slender habitus, scoliosis, arachnodactyly, muscle weakness, genu varis, thin blond hair, malar flush, lens dislocations, an increased incidence of mental retardation, and a tendency to develop fibrosis of arteries, frequently complicated by cerebrovascular accidents and myocardial infarction.
Me Sh Disease Class
Nervous System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome