MMADHC Chromosome 2
Metabolism of cobalamin associated D
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What This Gene Does
This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
Associated Conditions (7)
Methylmalonic aciduria and homocystinuria type cblD
Disorders of Intracellular Cobalamin Metabolism
MMADHC-related disorder
Cobalamin C disease
Homocystinuria-megaloblastic anemia cblD type
Isolated methylmalonic aciduria cblD type
See cases
Key Variants
RS1408840913
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
Health Risk
RS144111552
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD, Disorders of Intracellular Cobalamin Metabolism
Health Risk
RS147318949
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD, Disorders of Intracellular Cobalamin Metabolism
Health Risk
RS147370143
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD, MMADHC-related disorder
Health Risk
RS1553453945
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblD, MMADHC-related disorder, Methylmalonic aciduria and homocystinuria type cblD
Health Risk
RS1682617973
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
Health Risk
RS180812156
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblD, Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD
Health Risk
RS199528296
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD, Disorders of Intracellular Cobalamin Metabolism
Health Risk
RS530553915
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblD, Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD
Health Risk
RS754142876
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblD, MMADHC-related disorder, Methylmalonic aciduria and homocystinuria type cblD
Health Risk
RS886054920
Conflicting classifications of pathogenicity
Methylmalonic aciduria and homocystinuria type cblD, Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD
Health Risk
RS886054923
Conflicting classifications of pathogenicity
Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD, Disorders of Intracellular Cobalamin Metabolism
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2467644943 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS2467645024 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS2467647793 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS2467648001 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS374702278 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS397509361 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Isolated methylmalonic aciduria cblD type, Methylmalonic aciduria and homocystinuria type cblD |
| RS397509362 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Isolated methylmalonic aciduria cblD type, Methylmalonic aciduria and homocystinuria type cblD |
| RS397509363 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS397509364 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS864309741 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS864309742 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS864309743 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS886039425 | Health Risk | Pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Cobalamin C disease, Methylmalonic aciduria and homocystinuria type cblD |
| RS1162948308 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS118204044 | Health Risk | Pathogenic/Likely pathogenic | Homocystinuria-megaloblastic anemia cblD type, Methylmalonic aciduria and homocystinuria type cblD, Homocystinuria-megaloblastic anemia cblD type |
| RS118204046 | Health Risk | Pathogenic/Likely pathogenic | Homocystinuria-megaloblastic anemia cblD type, Methylmalonic aciduria and homocystinuria type cblD, See cases |
| RS118204048 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS141093638 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Disorders of Intracellular Cobalamin Metabolism, MMADHC-related disorder |
| RS1558845002 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS2105042238 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |
| RS751159722 | Health Risk | Pathogenic/Likely pathogenic | Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD |