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Disease Homocystinuria

Name Homocystinuria
Synonyms CBS Deficiencies | CBS Deficiency | CBS DEFICIENCY HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED | Cystathionine Beta Synthase Deficiency | CYSTATHIONINE BETA-SYNTHASE DEFICIENCY | Cystathionine beta Synthase Deficiency Disease | Cystathionine beta-Synthase Deficiency Disease | Deficiencies, CBS | Deficiency, CBS | Deficiency Disease, Cystathionine beta Synthase | Deficiency Disease, Cystathionine beta-Synthase | HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY | HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE
Definition 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)
Categories Connective tissue disease | Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D006712
OMIM® ID 236200
External Links

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Homocystinuria Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Hyperhomocysteinemia Has associated chemicals Has associated genes Has associated exposure references Homocystinuria Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Homocystinuria Has associated chemicals Has associated genes
4. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Homocystinuria Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Homocystinuria Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Hyperhomocysteinemia Has associated chemicals Has associated genes Has associated exposure references Homocystinuria Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Homocystinuria Has associated chemicals Has associated genes

Top ↑ Descendants

Homocystinuria Has associated chemicals Has associated genes
  Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type Has associated chemicals Has associated genes
  Homocystinuria, Pyridoxine-Responsive
  Methylenetetrahydrofolate reductase deficiency Has associated chemicals Has associated genes
  Methylmalonic acidemia with homocystinuria Has associated chemicals Has associated genes
  Mthfr Deficiency, Thermolabile Type