Disease: Methylmalonic acidemia with homocystinuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 GeneticVariation disease BEFREE Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review. 31279840 2019
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 Biomarker disease GENOMICS_ENGLAND COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE. 30204970 2018
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 Biomarker disease CLINGEN Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria. 30157807 2018
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 GeneticVariation disease CLINVAR Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. 29294253 2018
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 GeneticVariation disease CLINVAR Molecular picture of cobalamin C/D defects before and after newborn screening era. 27252276 2017
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report. 29042959 2017
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. 28693988 2017
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. 28327205 2017
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 Biomarker disease CLINGEN Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. 28693988 2017
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type. 28218226 2017
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 Biomarker disease GENOMICS_ENGLAND Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC. 27324188 2016
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 GeneticVariation disease CLINVAR A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. 26270766 2016
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR [Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria]. 27751223 2016
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR Report - Report on the heterozygosis mutations of c.567dupT, p.(Ile190Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia. 27383490 2016
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 GeneticVariation disease CLINVAR Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency. 26825575 2016
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency. 26825575 2016
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. 25687216 2015
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency. 25894566 2015
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR [Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia]. 26412180 2015
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 25689098 2015
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC. 26149271 2015
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 Biomarker disease GENOMICS_ENGLAND MMACHC gene mutation in familial hypogonadism with neurological symptoms. 26283149 2015
CUI: C1848561
Disease: Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria 		0.950 CausalMutation disease CLINVAR Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss. 26658511 2015