Statements (45)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Genetic disorder
Metabolic disorder |
| gptkbp:accumulates |
gptkb:Methionine
Homocysteine |
| gptkbp:affects |
Amino acid metabolism
|
| gptkbp:category |
Amino acid disorder
Disorder of sulfur amino acid metabolism Inborn error of metabolism |
| gptkbp:causedBy |
Cystathionine beta-synthase deficiency
MTHFR deficiency Methionine synthase deficiency |
| gptkbp:complication |
Stroke
Lens dislocation Mental retardation Vascular events |
| gptkbp:diagnosedBy |
Genetic testing
Plasma homocysteine measurement |
| gptkbp:firstDescribed |
1962
|
| gptkbp:frequency |
Rare
|
| gptkbp:gene |
gptkb:CBS
gptkb:MTHFR gptkb:MTR gptkb:MTRR |
| https://www.w3.org/2000/01/rdf-schema#label |
Homocystinuria
|
| gptkbp:ICD-10_code |
E72.1
|
| gptkbp:inheritance |
Autosomal recessive
|
| gptkbp:inheritsFrom |
Autosomal recessive
|
| gptkbp:OMIM |
236200
|
| gptkbp:prevalence |
1 in 200,000 to 1 in 335,000
|
| gptkbp:relatedTo |
gptkb:Marfan_syndrome
|
| gptkbp:symptom |
gptkb:Ectopia_lentis
Osteoporosis Myopia Intellectual disability Developmental delay Tall stature Thromboembolism Skeletal abnormalities |
| gptkbp:treatment |
gptkb:Vitamin_B12
Folate Vitamin B6 Betaine Low-methionine diet |
| gptkbp:bfsParent |
gptkb:Weill-Marchesani_syndrome
|
| gptkbp:bfsLayer |
8
|