Loss-of-function mutations in DLD cause MSUD3/DLDD

Pathway network for the Loss-of-function mutations in DLD cause MSUD3/DLDD SuperPath

Sources:

Reactome
PubChem

Pathways in the Loss-of-function mutations in DLD cause MSUD3/DLDD SuperPath

#	Name	Source	Genes
1	Loss-of-function mutations in DLD cause MSUD3/DLDD	Reactome	BCKDHA BCKDHB DBT DLD
2	superpathway of methionine degradation	PubChem	AHCY BCKDHA BCKDHB BHMT BHMT2 CBS CDO1 DBT DLD GOT1 LOC102724560 MAT1A MAT2A MAT2B MCEE MMUT MTR PCCA PCCB SUOX (see all 20) (see less)
3	superpathway of L-methionine salvage and degradation	PubChem	AHCY BCKDHA BCKDHB BHMT BHMT2 CBS CDO1 DBT DLD GOT1 LOC102724560 MAT1A MAT2A MAT2B MCEE MMUT MTR PCCA PCCB SUOX (see all 20) (see less)
4	2-oxobutanoate degradation I	PubChem	BCKDHA BCKDHB DBT DLD MCEE MMUT PCCA PCCB (see all 8) (see less)
5	2-oxobutanoate degradation	PubChem	BCKDHA BCKDHB DBT DLD MCEE MMUT PCCA PCCB (see all 8) (see less)
6	L-threonine degradation V	PubChem	BCKDHA BCKDHB DBT DLD SDS SDSL (see all 6) (see less)
7	threonine degradation	PubChem	BCKDHA BCKDHB DBT DLD SDS SDSL (see all 6) (see less)
8	Maple Syrup Urine Disease	Reactome	BCKDHA BCKDHB DBT DLD PPM1K
9	H139Hfs13* PPM1K causes a mild variant of MSUD	Reactome	BCKDHA BCKDHB DBT DLD PPM1K
10	Loss-of-function mutations in DBT cause MSUD2	Reactome	BCKDHA BCKDHB DBT DLD
11	2-oxoisovalerate decarboxylation to isobutanoyl-CoA	PubChem	BCKDHA BCKDHB DBT DLD
12	BCKDH synthesizes BCAA-CoA from KIC, KMVA, KIV	Reactome	BCKDHA BCKDHB DBT DLD
13	propionyl-CoA degradation	PubChem	MCEE MMUT PCCA PCCB
14	propanoyl CoA degradation I	PubChem	MCEE MMUT PCCA PCCB
15	Loss-of-function mutations in BCKDHA or BCKDHB cause MSUD	Reactome	BCKDHA BCKDHB DBT

Gene overlap in member pathways for Loss-of-function mutations in DLD cause MSUD3/DLDD SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	DBT	Dihydrolipoamide Branched Chain Transacylase E2	Protein Coding	13
2	BCKDHA	Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha	Protein Coding	13
3	BCKDHB	Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta	Protein Coding	13
4	DLD	Dihydrolipoamide Dehydrogenase	Protein Coding	12
5	MMUT	Methylmalonyl-CoA Mutase	Protein Coding	6
6	PCCA	Propionyl-CoA Carboxylase Subunit Alpha	Protein Coding	6
7	MCEE	Methylmalonyl-CoA Epimerase	Protein Coding	6
8	PCCB	Propionyl-CoA Carboxylase Subunit Beta	Protein Coding	6
9	MAT1A	Methionine Adenosyltransferase 1A	Protein Coding	2
10	CDO1	Cysteine Dioxygenase Type 1	Protein Coding	2
11	SUOX	Sulfite Oxidase	Protein Coding	2
12	BHMT	Betaine--Homocysteine S-Methyltransferase	Protein Coding	2
13	BHMT2	Betaine--Homocysteine S-Methyltransferase 2	Protein Coding	2
14	GOT1	Glutamic-Oxaloacetic Transaminase 1	Protein Coding	2
15	MTR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase	Protein Coding	2
16	MAT2B	Methionine Adenosyltransferase 2 Non-Catalytic Beta Subunit	Protein Coding	2
17	AHCY	Adenosylhomocysteinase	Protein Coding	2
18	CBS	Cystathionine Beta-Synthase	Protein Coding	2
19	LOC102724560	Cystathionine Beta-Synthase Like	Protein Coding	2
20	MAT2A	Methionine Adenosyltransferase 2A	Protein Coding	2
21	SDS	Serine Dehydratase	Protein Coding	2
22	SDSL	Serine Dehydratase Like	Protein Coding	2
23	PPM1K	Protein Phosphatase, Mg2+/Mn2+ Dependent 1K	Protein Coding	2

Disorders associated with Loss-of-function mutations in DLD cause MSUD3/DLDD SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Maple syrup urine disease, type ia	Direct
2	Intermittent maple syrup urine disease	Enrichment	BCKDHA, BCKDHB, DBT	10.83
3	Classic maple syrup urine disease	Enrichment	BCKDHA, BCKDHB, DBT	10.83
4	Intermediate maple syrup urine disease	Enrichment	BCKDHA, BCKDHB, DBT	10.26
5	Dihydrolipoamide dehydrogenase deficiency	Enrichment	BCKDHB, DLD	7.19
6	Propionic acidemia	Enrichment	PCCA, PCCB	6.41
7	Isolated methylmalonic acidemia	Enrichment	MCEE, MMUT	5.86
8	Methylmalonic acidemia	Enrichment	MCEE, MMUT	5.74
9	Homocystinuria	Enrichment	CBS, MTR	5.21
10	Maple syrup urine disease, type ii	Enrichment	DBT	3.53
11	Maple syrup urine disease, type ib	Enrichment	BCKDHB	3.53
12	Methylmalonyl-coa epimerase deficiency	Enrichment	MCEE	3.53
13	Methemoglobinemia due to deficiency of methemoglobin reductase	Enrichment	DLD	3.23
14	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	Enrichment	MMUT	3.05
15	Liver failure, infantile, transient	Enrichment	MMUT	2.83
16	Pontocerebellar hypoplasia, type 2d	Enrichment	PCCA	2.83
17	Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency	Enrichment	AHCY	2.83
18	Sulfite oxidase deficiency, isolated	Enrichment	SUOX	2.83
19	Hyperhomocysteinemia	Enrichment	CBS	2.83
20	Aspartate aminotransferase, serum level of, quantitative trait locus 1	Enrichment	GOT1	2.83
21	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	CBS, MAT2A	2.73
22	Methionine adenosyltransferase i/iii deficiency	Enrichment	MAT1A	2.53
23	Disorders of intracellular cobalamin metabolism	Enrichment	MTR	2.53
24	Methionine adenosyltransferase deficiency	Enrichment	MAT1A	2.53
25	Lactic acidosis	Enrichment	DLD	2.45
26	Homocystinuria-megaloblastic anemia, cblg type	Enrichment	MTR	2.35
27	Homocystinuria due to cystathionine beta-synthase deficiency	Enrichment	CBS	2.35
28	Neural tube defects, folate-sensitive	Enrichment	MTR	2.23
29	Connective tissue disease	Enrichment	CBS	1.34
30	Epilepsy	Enrichment	MTR	1.24

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Loss-of-function mutations in DLD cause MSUD3/DLDD

Pathway Network for Loss-of-function mutations in DLD cause MSUD3/DLDD

Pathway network for the Loss-of-function mutations in DLD cause MSUD3/DLDD SuperPath

Member Pathways for Loss-of-function mutations in DLD cause MSUD3/DLDD

Pathways in the Loss-of-function mutations in DLD cause MSUD3/DLDD SuperPath

Gene overlap in member pathways for Loss-of-function mutations in DLD cause MSUD3/DLDD SuperPath

Associated Genes for Loss-of-function mutations in DLD cause MSUD3/DLDD

Associated Disorders for Loss-of-function mutations in DLD cause MSUD3/DLDD

Disorders associated with Loss-of-function mutations in DLD cause MSUD3/DLDD SuperPath

STRING Interaction Network for Loss-of-function mutations in DLD cause MSUD3/DLDD

Sources for Loss-of-function mutations in DLD cause MSUD3/DLDD