MTHFR deficiency

No Pathway Network information available for MTHFR deficiency

Pathways in the MTHFR deficiency SuperPath

#	Name	Source	Genes
1	MTHFR deficiency	WikiPathways	ALDH7A1 ASMT BHMT CASP3 CASP9 CHDH CHKA CHPT1 COMT DNMT1 DNMT3A DNMT3B EHMT1 EHMT2 GRIN1 GRIN2D HNMT MARS1 MTHFR PCYT1A PEMT (see all 21) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	GRIN2D	Glutamate Ionotropic Receptor NMDA Type Subunit 2D	Protein Coding	1
2	CHDH	Choline Dehydrogenase	Protein Coding	1
3	BHMT	Betaine--Homocysteine S-Methyltransferase	Protein Coding	1
4	ALDH7A1	Aldehyde Dehydrogenase 7 Family Member A1	Protein Coding	1
5	HNMT	Histamine N-Methyltransferase	Protein Coding	1
6	CHPT1	Choline Phosphotransferase 1	Protein Coding	1
7	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	1
8	PEMT	Phosphatidylethanolamine N-Methyltransferase	Protein Coding	1
9	PCYT1A	Phosphate Cytidylyltransferase 1A, Choline	Protein Coding	1
10	CHKA	Choline Kinase Alpha	Protein Coding	1
11	MARS1	Methionyl-TRNA Synthetase 1	Protein Coding	1
12	CASP9	Caspase 9	Protein Coding	1
13	CASP3	Caspase 3	Protein Coding	1
14	EHMT1	Euchromatic Histone Lysine Methyltransferase 1	Protein Coding	1
15	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	1
16	ASMT	Acetylserotonin O-Methyltransferase	Protein Coding	1
17	DNMT3B	DNA Methyltransferase 3 Beta	Protein Coding	1
18	DNMT3A	DNA Methyltransferase 3 Alpha	Protein Coding	1
19	DNMT1	DNA Methyltransferase 1	Protein Coding	1
20	COMT	Catechol-O-Methyltransferase	Protein Coding	1
21	EHMT2	Euchromatic Histone Lysine Methyltransferase 2	Protein Coding	1

Disorders associated with MTHFR deficiency SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Autosomal recessive non-syndromic intellectual disability	Enrichment	CHKA, GRIN1, HNMT	4.03
2	Schizophrenia	Enrichment	COMT, EHMT1, MTHFR	4.01
3	Epilepsy, early-onset, 4, vitamin b6-dependent	Enrichment	ALDH7A1	2.81
4	Homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity	Enrichment	MTHFR	2.81
5	Intellectual developmental disorder, autosomal recessive 51	Enrichment	HNMT	2.81
6	Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures	Enrichment	CHKA	2.81
7	Heyn-sproul-jackson syndrome	Enrichment	DNMT3A	2.81
8	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	Enrichment	GRIN1	2.81
9	Developmental and epileptic encephalopathy 101	Enrichment	GRIN1	2.81
10	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Enrichment	GRIN1	2.81
11	Charcot-marie-tooth disease, axonal, type 2u	Enrichment	MARS1	2.81
12	Trichothiodystrophy 9, nonphotosensitive	Enrichment	MARS1	2.81
13	Catechol-o-methyltransferase activity, variation in	Enrichment	COMT	2.81
14	Pulmonary alveolar proteinosis	Enrichment	MARS1	2.81
15	Intellectual disability, autosomal dominant 8	Enrichment	GRIN1	2.81
16	West syndrome	Enrichment	GRIN1, MTHFR	2.68
17	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	Enrichment	DNMT3B	2.51
18	Spondylometaphyseal dysplasia with cone-rod dystrophy	Enrichment	PCYT1A	2.51
19	Spastic paraplegia 70, autosomal recessive	Enrichment	MARS1	2.51
20	Bilateral generalized polymicrogyria	Enrichment	GRIN1	2.51
21	Facioscapulohumeral muscular dystrophy 4, digenic	Enrichment	DNMT3B	2.51
22	Kleefstra syndrome	Enrichment	EHMT1	2.51
23	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	Enrichment	DNMT1	2.51
24	Developmental and epileptic encephalopathy 46	Enrichment	GRIN2D	2.51
25	Interstitial lung and liver disease	Enrichment	MARS1	2.51
26	Tatton-brown-rahman syndrome	Enrichment	DNMT3A	2.51
27	Isolated anencephaly	Enrichment	MTHFR	2.51
28	Lipodystrophy, congenital generalized, type 5	Enrichment	PCYT1A	2.51
29	Kleefstra syndrome due to a point mutation	Enrichment	EHMT1	2.51
30	Pyridoxine-dependent-developmental and epileptic encephalopathy	Enrichment	ALDH7A1	2.51
31	Isolated exencephaly	Enrichment	MTHFR	2.51
32	Developmental and epileptic encephalopathy 13	Enrichment	ALDH7A1	2.33
33	Neuropathy, hereditary sensory, type ie	Enrichment	DNMT1	2.33
34	Neural tube defects, folate-sensitive	Enrichment	MTHFR	2.21
35	Myeloproliferative neoplasm	Enrichment	DNMT3A	2.11
36	Glioblastoma	Enrichment	DNMT3A	2.11
37	Facioscapulohumeral muscular dystrophy 1	Enrichment	DNMT3B	2.03
38	Kleefstra syndrome 1	Enrichment	EHMT1	2.03
39	Immunodeficiency-centromeric instability-facial anomalies syndrome	Enrichment	DNMT3B	2.03
40	Sporadic pheochromocytoma/secreting paraganglioma	Enrichment	DNMT3A	2.03
41	Thrombophilia due to thrombin defect	Enrichment	MTHFR	1.97
42	Hereditary sensory and autonomic neuropathy type 1	Enrichment	DNMT1	1.97
43	Congenital nervous system abnormality	Enrichment	ALDH7A1, DNMT3A	1.94
44	Nervous system disease	Enrichment	ALDH7A1, DNMT3A	1.94
45	Autism spectrum disorder	Enrichment	DNMT3A, EHMT1	1.92
46	Polymicrogyria	Enrichment	EHMT1	1.81
47	Melanoma	Enrichment	DNMT3A	1.81
48	Asthma	Enrichment	HNMT	1.77
49	Specific learning disability	Enrichment	DNMT3A	1.77
50	Digeorge syndrome	Enrichment	COMT	1.73
51	Neural tube defects	Enrichment	MTHFR	1.70
52	Pituitary stalk interruption syndrome	Enrichment	DNMT1	1.67
53	Rare genetic intellectual disability	Enrichment	DNMT3A	1.64
54	Hydrocephalus, congenital, 1	Enrichment	ALDH7A1	1.61
55	Gliosarcoma	Enrichment	DNMT3A	1.61
56	Giant cell glioblastoma	Enrichment	DNMT3A	1.58
57	Early infantile developmental and epileptic encephalopathy	Enrichment	GRIN1	1.56
58	Diffuse large b-cell lymphoma	Enrichment	DNMT3A	1.54
59	Developmental and epileptic encephalopathy 1	Enrichment	GRIN1	1.42
60	Leukemia, acute myeloid	Enrichment	DNMT3A	1.22
61	Epilepsy	Enrichment	ALDH7A1	1.22
62	Benign epilepsy with centrotemporal spikes	Enrichment	GRIN1	1.21
63	Bardet-biedl syndrome	Enrichment	COMT	1.20
64	Centralopathic epilepsy	Enrichment	GRIN1	1.19
65	Body mass index quantitative trait locus 11	Enrichment	DNMT3A	1.13
66	Autosomal dominant non-syndromic intellectual disability	Enrichment	GRIN1	1.13
67	Spastic ataxia	Enrichment	DNMT1	1.10
68	Myeloma, multiple	Enrichment	DNMT3A	1.08
69	Undetermined early-onset epileptic encephalopathy	Enrichment	GRIN2D	1.08
70	Leber plus disease	Enrichment	PCYT1A	0.86
71	Microcephaly	Enrichment	CHKA	0.76

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

Pathway Network for MTHFR deficiency

Member Pathways for MTHFR deficiency

Pathways in the MTHFR deficiency SuperPath

Associated Genes for MTHFR deficiency

Associated Disorders for MTHFR deficiency

Disorders associated with MTHFR deficiency SuperPath

STRING Interaction Network for MTHFR deficiency

Sources for MTHFR deficiency