Entry Search - 248600 248610 248611 608348 620698 620699

Search: '248600 248610 248611 608348 620698 620699 (Search in: MIM number)'

Results: 6 entries.

# 248600. MAPLE SYRUP URINE DISEASE, TYPE IA; MSUD1A
Cytogenetic location: 19q13.2
Matching terms: 248600
► 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
19q13.2	Maple syrup urine disease, type Ia	248600	AR	3	BCKDHA	608348

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Maple syrup urine disease - PS248600 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p21.2	Maple syrup urine disease, type II	AR	3	620699	DBT	248610
4q22.1	Maple syrup urine disease, mild variant	AR	3	615135	PPM1K	611065
6q14.1	Maple syrup urine disease, type Ib	AR	3	620698	BCKDHB	248611
7q31.1	Dihydrolipoamide dehydrogenase deficiency	AR	3	246900	DLD	238331
19q13.2	Maple syrup urine disease, type Ia	AR	3	248600	BCKDHA	608348

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Links
Testing GTR EuroGentest Classic maple syrup urine … Intermediate maple syrup u… Intermittent maple syrup u… Thiamine-responsive maple … Maple syrup urine disease	Clinical Resources Clinical Trials EuroGentest Classic maple syrup urine … Intermediate maple syrup u… Intermittent maple syrup u… Thiamine-responsive maple … Maple syrup urine disease Gene Reviews Genetic Alliance GTR Newborn Screening ACMG ACT Sheet ACMG Algorithm OrphaNet Classic maple syrup urine … Intermediate maple syrup u… Intermittent maple syrup u… Thiamine-responsive maple … Maple syrup urine disease	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 268145, 268162, 268173, 268184, 511 DO: 9269

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* 608348. BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA
Cytogenetic location: 19q13.2, Genomic coordinates (GRCh38): 19:41,397,818-41,425,002
Matching terms: 608348
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19q13.2	Maple syrup urine disease, type Ia	248600	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 Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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* 248610. DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT
Cytogenetic location: 1p21.2, Genomic coordinates (GRCh38): 1:100,186,919-100,249,834
Matching terms: 248610
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1p21.2	Maple syrup urine disease, type II	620699	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 NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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* 248611. BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB
Cytogenetic location: 6q14.1, Genomic coordinates (GRCh38): 6:80,106,610-80,466,676
Matching terms: 248611
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6q14.1	Maple syrup urine disease, type Ib	620698	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 DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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# 620698. MAPLE SYRUP URINE DISEASE, TYPE IB; MSUD1B
Cytogenetic location: 6q14.1
Matching terms: 620698
► 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
6q14.1	Maple syrup urine disease, type Ib	620698	AR	3	BCKDHB	248611

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Maple syrup urine disease - PS248600 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p21.2	Maple syrup urine disease, type II	AR	3	620699	DBT	248610
4q22.1	Maple syrup urine disease, mild variant	AR	3	615135	PPM1K	611065
6q14.1	Maple syrup urine disease, type Ib	AR	3	620698	BCKDHB	248611
7q31.1	Dihydrolipoamide dehydrogenase deficiency	AR	3	246900	DLD	238331
19q13.2	Maple syrup urine disease, type Ia	AR	3	248600	BCKDHA	608348

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Links
Testing GTR EuroGentest Classic maple syrup urine … Intermediate maple syrup u… Intermittent maple syrup u… Maple syrup urine disease	Clinical Resources Clinical Trials EuroGentest Classic maple syrup urine … Intermediate maple syrup u… Intermittent maple syrup u… Maple syrup urine disease Gene Reviews GTR OrphaNet Classic maple syrup urine … Intermediate maple syrup u… Intermittent maple syrup u… Maple syrup urine disease

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ICD+
ORPHA: 268145, 268162, 268173, 511

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# 620699. MAPLE SYRUP URINE DISEASE, TYPE II; MSUD2
Cytogenetic location: 1p21.2
Matching terms: 620699
► 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
1p21.2	Maple syrup urine disease, type II	620699	AR	3	DBT	248610

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Maple syrup urine disease - PS248600 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p21.2	Maple syrup urine disease, type II	AR	3	620699	DBT	248610
4q22.1	Maple syrup urine disease, mild variant	AR	3	615135	PPM1K	611065
6q14.1	Maple syrup urine disease, type Ib	AR	3	620698	BCKDHB	248611
7q31.1	Dihydrolipoamide dehydrogenase deficiency	AR	3	246900	DLD	238331
19q13.2	Maple syrup urine disease, type Ia	AR	3	248600	BCKDHA	608348

▲ Close

Links
Testing GTR EuroGentest Classic maple syrup urine … Intermediate maple syrup u… Intermittent maple syrup u… Maple syrup urine disease	Clinical Resources Clinical Trials EuroGentest Classic maple syrup urine … Intermediate maple syrup u… Intermittent maple syrup u… Maple syrup urine disease Gene Reviews GTR OrphaNet Classic maple syrup urine … Intermediate maple syrup u… Intermittent maple syrup u… Maple syrup urine disease

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ICD+
ORPHA: 268145, 268162, 268173, 511

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Search: 248600 248610 248611 608348 620698 620699 (Search in: MIM number)

Results: 6 entries.

# 248600. MAPLE SYRUP URINE DISEASE, TYPE IA; MSUD1A
Cytogenetic location: 19q13.2
Matching terms: 248600

* 608348. BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA
Cytogenetic location: 19q13.2, Genomic coordinates (GRCh38): 19:41,397,818-41,425,002
Matching terms: 608348

* 248610. DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT
Cytogenetic location: 1p21.2, Genomic coordinates (GRCh38): 1:100,186,919-100,249,834
Matching terms: 248610

* 248611. BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE; BCKDHB
Cytogenetic location: 6q14.1, Genomic coordinates (GRCh38): 6:80,106,610-80,466,676
Matching terms: 248611

# 620698. MAPLE SYRUP URINE DISEASE, TYPE IB; MSUD1B
Cytogenetic location: 6q14.1
Matching terms: 620698

# 620699. MAPLE SYRUP URINE DISEASE, TYPE II; MSUD2
Cytogenetic location: 1p21.2
Matching terms: 620699

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Printed: March 5, 2025