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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00183 | Homocystinuria | Homocystinuria (HC) is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems. | Inherited metabolic disorder |
CBS [HSA:875] [KO:K01697] MTHFR [HSA:4524] [KO:K25004] (HMAE) MTRR [HSA:4552] [KO:K00597] (HMAG) MTR [HSA:4548] [KO:K00548] |
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| H00262 | Neural tube defects, folate-sensitive | Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. It has been demonstrated that folate status ... | Congenital malformation |
MTHFR [HSA:4524] [KO:K25004] MTR [HSA:4548] [KO:K00548] MTRR [HSA:4552] [KO:K00597] MTHFD1 [HSA:4522] [KO:K00288] |
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| H01552 |
Down syndrome Trisomy 21 |
... frequency of polymorphism of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase gene (MTRR) in mothers with DS child. The phenotypic features of DS are quite variable from person to person ... | Chromosomal abnormality |
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