Statements (48)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic disorder |
| gptkbp:affects |
gptkb:skeletal_muscle
gptkb:nervous_system circulatory system skeletal system |
| gptkbp:biochemicalMarker |
methionine
cystathionine homocysteine |
| gptkbp:category |
rare disease
inborn error of metabolism amino acid disorder |
| gptkbp:causedBy |
defect in methionine metabolism
deficiency of cystathionine beta-synthase mutation in CBS gene |
| gptkbp:complication |
gptkb:cardiovascular_disease
stroke seizures mental retardation |
| gptkbp:diagnosedBy |
elevated homocysteine in blood
elevated methionine in blood urine homocystine test |
| gptkbp:firstDescribed |
1962
|
| gptkbp:gene |
gptkb:CBS
|
| https://www.w3.org/2000/01/rdf-schema#label |
homocystinuria
|
| gptkbp:ICD-10_code |
E72.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
21q22.3
|
| gptkbp:namedAfter |
homocystine
|
| gptkbp:OMIM |
236200
|
| gptkbp:prevalence |
1 in 200,000 to 1 in 335,000 worldwide
|
| gptkbp:relatedTo |
gptkb:Marfan_syndrome
|
| gptkbp:screenedAt |
newborn screening
|
| gptkbp:symptom |
gptkb:bone
intellectual disability myopia tall stature developmental delay skeletal abnormalities thromboembolism lens dislocation |
| gptkbp:treatment |
folic acid
vitamin B12 vitamin B6 (pyridoxine) betaine low-methionine diet |
| gptkbp:bfsParent |
gptkb:Cystathionine_beta-synthase
|
| gptkbp:bfsLayer |
7
|