Entry Search - 251000 251100 251110 251120 607481 607568 608419 609058 611935 620953

Search: '251000 251100 251110 251120 607481 607568 608419 609058 611935 620953 (Search in: MIM number)'

Results: 10 entries.

* 608419. METHYLMALONYL-CoA EPIMERASE; MCEE
Cytogenetic location: 2p13.3, Genomic coordinates (GRCh38): 2:71,109,687-71,130,229
Matching terms: 608419
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p13.3	Methylmalonyl-CoA epimerase deficiency	251120	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1293018007

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* 609058. METHYLMALONYL-CoA MUTASE; MMUT
Cytogenetic location: 6p12.3, Genomic coordinates (GRCh38): 6:49,430,360-49,463,253
Matching terms: 609058
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6p12.3	Methylmalonic aciduria, mut(0) type	251000	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 611935. METABOLISM OF COBALAMIN ASSOCIATED D; MMADHC
Cytogenetic location: 2q23.2, Genomic coordinates (GRCh38): 2:149,569,637-149,587,775
Matching terms: 611935
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q23.2	Homocystinuria-megaloblastic anemia, cblD type	620952	AR	3
	Methylmalonic aciduria and homocystinuria, cblD type	277410	AR	3
	Methylmalonic aciduria, cblD type	620953	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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# 251000. METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY; MAMM
METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED
Cytogenetic location: 6p12.3
Matching terms: 251000
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
6p12.3	Methylmalonic aciduria, mut(0) type	251000	AR	3	MMUT	609058

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Methylmalonic aciduria - PS251000 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q23.2	Methylmalonic aciduria, cblD type	AR	3	620953	MMADHC	611935
4q31.21	Methylmalonic aciduria, vitamin B12-responsive, cblA type	AR	3	251100	MMAA	607481
6p12.3	Methylmalonic aciduria, mut(0) type	AR	3	251000	MMUT	609058
12q24.11	Methylmalonic aciduria, vitamin B12-responsive, cblB type	AR	3	251110	MMAB	607568

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Links
Testing GTR EuroGentest Vitamin B12-unresponsive m… Vitamin B12-unresponsive m… Vitamin B12-unresponsive m…	Clinical Resources Clinical Trials EuroGentest Vitamin B12-unresponsive m… Vitamin B12-unresponsive m… Vitamin B12-unresponsive m… Gene Reviews Genetic Alliance GTR Newborn Screening ACMG ACT Sheet ACMG Algorithm OrphaNet Vitamin B12-unresponsive m… Vitamin B12-unresponsive m… Vitamin B12-unresponsive m… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 27, 289916, 79312 DO: 0060740

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# 251100. METHYLMALONIC ACIDURIA, cblA TYPE; MACA
Cytogenetic location: 4q31.21
Matching terms: 251100
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
4q31.21	Methylmalonic aciduria, vitamin B12-responsive, cblA type	251100	AR	3	MMAA	607481

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Methylmalonic aciduria - PS251000 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q23.2	Methylmalonic aciduria, cblD type	AR	3	620953	MMADHC	611935
4q31.21	Methylmalonic aciduria, vitamin B12-responsive, cblA type	AR	3	251100	MMAA	607481
6p12.3	Methylmalonic aciduria, mut(0) type	AR	3	251000	MMUT	609058
12q24.11	Methylmalonic aciduria, vitamin B12-responsive, cblB type	AR	3	251110	MMAB	607568

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Links
Testing GTR EuroGentest Vitamin B12-responsive met… Vitamin B12-responsive met…	Clinical Resources Clinical Trials EuroGentest Vitamin B12-responsive met… Vitamin B12-responsive met… Gene Reviews Genetic Alliance GTR Newborn Screening ACMG ACT Sheet ACMG Algorithm OrphaNet Vitamin B12-responsive met… Vitamin B12-responsive met… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 28, 79310 DO: 0060742

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# 251110. METHYLMALONIC ACIDURIA, cblB TYPE; MACB
Cytogenetic location: 12q24.11
Matching terms: 251110
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
12q24.11	Methylmalonic aciduria, vitamin B12-responsive, cblB type	251110	AR	3	MMAB	607568

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Methylmalonic aciduria - PS251000 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q23.2	Methylmalonic aciduria, cblD type	AR	3	620953	MMADHC	611935
4q31.21	Methylmalonic aciduria, vitamin B12-responsive, cblA type	AR	3	251100	MMAA	607481
6p12.3	Methylmalonic aciduria, mut(0) type	AR	3	251000	MMUT	609058
12q24.11	Methylmalonic aciduria, vitamin B12-responsive, cblB type	AR	3	251110	MMAB	607568

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Links
Testing GTR EuroGentest Vitamin B12-responsive met… Vitamin B12-responsive met…	Clinical Resources Clinical Trials EuroGentest Vitamin B12-responsive met… Vitamin B12-responsive met… Gene Reviews Genetic Alliance GTR Newborn Screening ACMG ACT Sheet ACMG Algorithm OrphaNet Vitamin B12-responsive met… Vitamin B12-responsive met… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 28, 79311 DO: 0060743

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# 251120. METHYLMALONYL-CoA EPIMERASE DEFICIENCY
METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY, INCLUDED
Cytogenetic location: 2p13.3
Matching terms: 251120
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2p13.3	Methylmalonyl-CoA epimerase deficiency	251120	AR	3	MCEE	608419

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR OrphaNet

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ICD+
SNOMEDCT: 1293018007 ORPHA: 308425

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* 607481. METABOLISM OF COBALAMIN ASSOCIATED A; MMAA
Cytogenetic location: 4q31.21, Genomic coordinates (GRCh38): 4:145,619,385-145,660,033
Matching terms: 607481
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4q31.21	Methylmalonic aciduria, vitamin B12-responsive, cblA type	251100	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 607568. METABOLISM OF COBALAMIN ASSOCIATED B; MMAB
Cytogenetic location: 12q24.11, Genomic coordinates (GRCh38): 12:109,553,715-109,573,504
Matching terms: 607568
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q24.11	Methylmalonic aciduria, vitamin B12-responsive, cblB type	251110	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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10:

# 620953. METHYLMALONIC ACIDURIA, cblD TYPE; MACD
Cytogenetic location: 2q23.2
Matching terms: 620953
► Phenotype-Gene Relationships ► Phenotypic Series ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2q23.2	Methylmalonic aciduria, cblD type	620953	AR	3	MMADHC	611935

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Methylmalonic aciduria - PS251000 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q23.2	Methylmalonic aciduria, cblD type	AR	3	620953	MMADHC	611935
4q31.21	Methylmalonic aciduria, vitamin B12-responsive, cblA type	AR	3	251100	MMAA	607481
6p12.3	Methylmalonic aciduria, mut(0) type	AR	3	251000	MMUT	609058
12q24.11	Methylmalonic aciduria, vitamin B12-responsive, cblB type	AR	3	251110	MMAB	607568

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Links
Clinical Resources Clinical Trials Gene Reviews

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Search: 251000 251100 251110 251120 607481 607568 608419 609058 611935 620953 (Search in: MIM number)

Results: 10 entries.

* 608419. METHYLMALONYL-CoA EPIMERASE; MCEE
Cytogenetic location: 2p13.3, Genomic coordinates (GRCh38): 2:71,109,687-71,130,229
Matching terms: 608419

* 609058. METHYLMALONYL-CoA MUTASE; MMUT
Cytogenetic location: 6p12.3, Genomic coordinates (GRCh38): 6:49,430,360-49,463,253
Matching terms: 609058

* 611935. METABOLISM OF COBALAMIN ASSOCIATED D; MMADHC
Cytogenetic location: 2q23.2, Genomic coordinates (GRCh38): 2:149,569,637-149,587,775
Matching terms: 611935

# 251000. METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY; MAMM
METHYLMALONIC ACIDURIA, mut(0) TYPE, INCLUDED
Cytogenetic location: 6p12.3
Matching terms: 251000

# 251100. METHYLMALONIC ACIDURIA, cblA TYPE; MACA
Cytogenetic location: 4q31.21
Matching terms: 251100

# 251110. METHYLMALONIC ACIDURIA, cblB TYPE; MACB
Cytogenetic location: 12q24.11
Matching terms: 251110

# 251120. METHYLMALONYL-CoA EPIMERASE DEFICIENCY
METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY, INCLUDED
Cytogenetic location: 2p13.3
Matching terms: 251120

* 607481. METABOLISM OF COBALAMIN ASSOCIATED A; MMAA
Cytogenetic location: 4q31.21, Genomic coordinates (GRCh38): 4:145,619,385-145,660,033
Matching terms: 607481

* 607568. METABOLISM OF COBALAMIN ASSOCIATED B; MMAB
Cytogenetic location: 12q24.11, Genomic coordinates (GRCh38): 12:109,553,715-109,573,504
Matching terms: 607568

10:

# 620953. METHYLMALONIC ACIDURIA, cblD TYPE; MACD
Cytogenetic location: 2q23.2
Matching terms: 620953

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