2.5.1.151 alkylcobalamin dealkylase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32186706&form=6&db=m The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology. causal interaction,therapeutic application,unassigned 4,1,0 2.5.1.151 alkylcobalamin dealkylase deficiency http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34147638&form=6&db=m Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice. causal interaction,therapeutic application,unassigned 3,1,0 2.5.1.151 Anemia, Megaloblastic http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23825108&form=6&db=m Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia. unassigned - 2.5.1.151 Avitaminosis http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=31905202&form=6&db=m THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation. causal interaction,unassigned 3,0 2.5.1.151 Craniofacial Abnormalities http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25281006&form=6&db=m Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. unassigned - 2.5.1.151 Genetic Diseases, Inborn http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26464686&form=6&db=m Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#. diagnostic usage,therapeutic application,unassigned 3,1,0 2.5.1.151 Glycogen Storage Disease Type VI http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24974159&form=6&db=m First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type. causal interaction,diagnostic usage,ongoing research,unassigned 1,4,1,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18164228&form=6&db=m Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. therapeutic application,unassigned 1,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=18848477&form=6&db=m Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. ongoing research,unassigned 2,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19370762&form=6&db=m Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. causal interaction,unassigned 3,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19836982&form=6&db=m Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. causal interaction,diagnostic usage,unassigned 4,2,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20610126&form=6&db=m Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. causal interaction,unassigned 2,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=20631720&form=6&db=m Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. causal interaction,therapeutic application,unassigned 3,1,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21835369&form=6&db=m Combined Methylmalonic Aciduria and Homocystinuria cblC Type of a Taiwanese Infant With c.609G>A and c.567dupT Mutations in the MMACHC Gene. causal interaction,therapeutic application,unassigned 4,1,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23580368&form=6&db=m Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. causal interaction,therapeutic application,unassigned 4,1,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24210589&form=6&db=m Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. causal interaction,unassigned 4,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25687216&form=6&db=m Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy. causal interaction,unassigned 3,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26149271&form=6&db=m Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC. causal interaction,unassigned 4,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26283149&form=6&db=m MMACHC gene mutation in familial hypogonadism with neurological symptoms. causal interaction,unassigned 3,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=28481040&form=6&db=m Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients. unassigned - 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29731766&form=6&db=m Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population. causal interaction,diagnostic usage,unassigned 4,1,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=30157807&form=6&db=m Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria. diagnostic usage,therapeutic application,unassigned 2,1,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32719376&form=6&db=m Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia. diagnostic usage,unassigned 3,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32905057&form=6&db=m Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder. causal interaction,unassigned 4,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33473346&form=6&db=m Outcomes of patients with cobalamin C deficiency: A single center experience. causal interaction,therapeutic application,unassigned 3,1,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33515116&form=6&db=m A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect. causal interaction,diagnostic usage,unassigned 3,3,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33804237&form=6&db=m Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia. causal interaction,unassigned 3,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33982424&form=6&db=m Epimutation of MMACHC compound to a genetic mutation in cblC cases. causal interaction,unassigned 4,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34147638&form=6&db=m Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice. causal interaction,therapeutic application,unassigned 3,1,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34215320&form=6&db=m PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations. causal interaction,diagnostic usage,unassigned 4,3,0 2.5.1.151 Homocystinuria http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=34510336&form=6&db=m Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension. causal interaction,unassigned 4,0 2.5.1.151 Hyperhomocysteinemia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=23430797&form=6&db=m Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease. causal interaction,unassigned 4,0 2.5.1.151 Hyperhomocysteinemia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24011988&form=6&db=m An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1. causal interaction,unassigned 4,0 2.5.1.151 Hyperhomocysteinemia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=25511120&form=6&db=m A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male. causal interaction,unassigned 2,0 2.5.1.151 Hyperhomocysteinemia http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32071835&form=6&db=m High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency. causal interaction,unassigned 4,0 2.5.1.151 Hypertension http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24853097&form=6&db=m Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene. causal interaction,unassigned 4,0 2.5.1.151 Hypogonadism http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26283149&form=6&db=m MMACHC gene mutation in familial hypogonadism with neurological symptoms. causal interaction,unassigned 3,0 2.5.1.151 Infections http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=19200761&form=6&db=m Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence. ongoing research,therapeutic application,unassigned 1,1,0 2.5.1.151 Kallmann Syndrome http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33411215&form=6&db=m Identification of MMACHC and PROKR2 mutations causing coexistent cobalamin C disease and Kallmann syndrome in a young woman. causal interaction,unassigned 1,0 2.5.1.151 Macular Degeneration http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=26658511&form=6&db=m Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss. causal interaction,unassigned 2,0 2.5.1.151 Melanoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32289469&form=6&db=m Genetic, epigenetic and genomic mechanisms of methionine dependency of cancer and tumor-initiating cells: What could we learn from folate and methionine cycles. ongoing research,unassigned 2,0 2.5.1.151 Melanoma http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33487542&form=6&db=m Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC. causal interaction,diagnostic usage,ongoing research,unassigned 1,3,3,0 2.5.1.151 Metabolic Diseases http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=21748409&form=6&db=m Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. causal interaction,unassigned 3,0 2.5.1.151 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=32289469&form=6&db=m Genetic, epigenetic and genomic mechanisms of methionine dependency of cancer and tumor-initiating cells: What could we learn from folate and methionine cycles. ongoing research,unassigned 2,0 2.5.1.151 Neoplasms http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33487542&form=6&db=m Methionine dependence in tumor cells: The potential role of cobalamin and MMACHC. causal interaction,diagnostic usage,ongoing research,unassigned 1,3,3,0 2.5.1.151 Phenylketonurias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=29731766&form=6&db=m Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population. causal interaction,diagnostic usage,unassigned 4,1,0 2.5.1.151 Phenylketonurias http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=33514801&form=6&db=m Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population. causal interaction,therapeutic application,unassigned 1,1,0 2.5.1.151 Pulmonary Arterial Hypertension http://www.ncbi.nlm.nih.gov/htbin-post/Entrez/query?uid=24853097&form=6&db=m Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene. causal interaction,unassigned 4,0