Aliases: DKFZP564I122, cblC.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Methylmalonic Aciduria and Homocystinuria cblL Type | unknown |
mechanism: Reduced MMACHC Expression
|
| Inborn Disorder of Cobalamin Metabolism and Transport | untyped |
mechanism: Impaired intracellular cobalamin cofactor synthesis
subtype: cblC
scoped to subtype: cblC
|
| Inborn Disorder of Methionine Cycle and Sulfur Amino Acid Metabolism | untyped |
mechanism: Cobalamin-Dependent Remethylation and Mutase Cofactor Failure
subtype: cblC disease
|
| MMACHC-related Methylmalonic Aciduria and Homocystinuria, cblC Type | untyped |
mechanism: MMACHC intracellular cobalamin processing deficiency
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 | AR | Definitive 2020-06-29 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.