Details of Disease

General Information of Disease (ID: DISUDX17)

• Disease Name: Methylmalonic aciduria and homocystinuria type cblC
• Synonyms: methylmalonic acidemia with homocystinuria, type cblC; vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase; methylmalonic aciduria and homocystinuria cblC; cblC methylmalonic acidemia and homocystinuria; cblC - cobalamin locus c; methylmalonic aciduria and homocystinuria, cblC type, digenic; methylmalonic aciduria and homocystinuria, vitamin B12-responsive; methylmalonic aciduria and homocystinuria, cblC type; cblC; methylmalonic acidemia with homocystinuria type cblC; methylmalonic acidemia and homocystinuria, cblC type; methylmalonic acidemia and homocystinuria cblC; MAHCC; cobalamin locus c variant; cblC defect; methylmalonic aciduria with homocystinuria, type cblC; combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC; methylmalonic aciduria and homocystinuria type cblC; cobalamin c disease; cobalamin C deficiency; cobalamin C defect
• Definition: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.
• Disease Hierarchy:
  DISSYRHC: Hereditary peripheral neuropathy
  DIS5921T: Methylmalonic aciduria and homocystinuria
  DISUDX17: Methylmalonic aciduria and homocystinuria type cblC
• Disease Identifiers:
  MONDO ID: MONDO_0010184
  MESH ID: C537359
  UMLS CUI: C1848561
  OMIM ID: 277400
  MedGen ID: 341256
  Orphanet ID: 79282
  SNOMED CT ID: 74653006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRDX1	OTZ3BEC4	Strong	Autosomal recessive	[1]
MMACHC	OTX0TT3W	Definitive	Autosomal recessive	[2]

References

• [1] APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 Jan 4;9(1):67. doi: 10.1038/s41467-017-02306-5.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.