All conditions under M
All 200+ conditions are caused by changes to specific genes. These genes are shown underneath each condition.
Skip to conditionsConditions
- Mannose Phosphate Isomerase (MPI) - Congenital Disorders of Glycosylation
Associated gene: MPI
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Maple Syrup Urine Disease
3 associated genes- DBT
- BCKDHA
- BCKDHB
- Medium-chain acyl-CoA dehydrogenase deficiency
Associated gene: ACADM
-
Megaloblastic anaemia
3 associated genes- SLC19A1
- SLC19A2
- DHFR
- Metachromatic leukodystrophy
Associated gene: ARSA
- Methylenetetrahydrofolate Reductase Deficiency
Associated gene: MTHFR
-
Methylmalonic acidaemia and homocystinuria
4 associated genes- MMADHC
- MMACHC
- LMBRD1
- ABCD4
- Mild non-BH4-deficient hyperphenylalaninemia
Associated gene: DNAJC12
- MIRAGE syndrome
Associated gene: SAMD9
- Mitochondrial complex I deficiency, nuclear type 20
Associated gene: ACAD9
- Mucopolysaccharidosis Type I
Associated gene: IDUA
- Mucopolysaccharidosis Type II
Associated gene: IDS
- Mucopolysaccharidosis Type IVA
Associated gene: GALNS
- Mucopolysaccharidosis Type VI
Associated gene: ARSB
- Mucopolysaccharidosis Type VII
Associated gene: GUSB
-
Multiple Acyl-CoA Dehydrogenase Deficiency
3 associated genes- ETFA
- ETFB
- ETFDH
- Multiple endocrine neoplasia II
Associated gene: RET
- Myoglobinuria
Associated gene: LPIN1