MTHFRD
MCID: HMC041
MIFTS: 45

Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity (MTHFRD)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

MalaCards integrated aliases for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:

Name: Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 57 72
Methylenetetrahydrofolate Reductase Deficiency 57 75 74 55 72
Homocystinuria Due to Mthfr Deficiency 57 53 29 13 6
Mthfr Deficiency 57 75 59
Homocysteinemia Due to Methylenetetrahydro-Folate Reductase Deficiency 53
Homocysteinuria Due to Methylenetetrahydro-Folate Reductase Deficiency 53
Homocystinuria Due to Methylene Tetrahydrofolate Reductase Deficiency 59
5,10 Alpha Methylenetetrahydro-Folate Reductase Deficiency 53
5,10-Alpha-Methylenetetrahydro-Folate Reductase Deficiency 53
5,10-Methylenetetrahydrofolate Reductase Deficiency 72
Methylenetetrahydro-Folate Reductase Deficiency 53
Methylene Tetrahydrofolate Reductase Deficiency 59
Mthfrd 74

Characteristics:

Orphanet epidemiological data:

59
homocystinuria due to methylene tetrahydrofolate reductase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two thirds of patients are female
clinical severity varies
age of onset ranges from neonate to adulthood


HPO:

32
homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 236250
ICD10 via Orphanet 34 E72.1
UMLS via Orphanet 73 C1856061
Orphanet 59 ORPHA395
UMLS 72 C0268615 C1856058 C1856061

Summaries for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

NIH Rare Diseases : 53 Homocystinuria due to MTHFR deficiency is a genetic condition that results from poor metabolism of folate (also called vitamin B9), due to a lack of working enzyme called MTHFR. The gene that tells our body how to make the enzyme is also called MTHFR. At least 40 rare MTHFR gene variants have been found in people with decreased or no working enzyme. Very common gene variants (C677T and A1298C) can cause some decrease in enzyme function. People with homocystinuria due to MTHFR deficiency tend to have two rare variants or sometimes a rare variant and a common variant. Very rarely people inherit a combination of three or four common variants from their parents (for example two C677T variants and two A1298C variants) and may also develop very high levels of homocystine in their body. Homocystinuria usually does not show symptoms in a newborn baby. If untreated, children show signs and symptoms of severe homocystinuria in infancy. Newborn screening in most states includes a screening test for homocystinuria so that newborn infants can be treated early in their lives. However, homocystinuria due to MTHFR variants can be milder, presenting in later childhood or in adulthood. Symptoms may include abnormal clotting, developmental delay, seizures, intellectual disability, and microcephaly. Severe homocystinuria can also be caused by gene variants in other genes besides MTHFR. For more information about other causes of homocystinuria, see the GARD page: https://rarediseases.info.nih.gov/diseases/10770/homocystinuria For more information on having two common MTHFR gene variants (specifically, C677T and A1298C) visit our page: MTHFR gene variant

MalaCards based summary : Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity, also known as methylenetetrahydrofolate reductase deficiency, is related to homocysteinemia and homocystinuria, and has symptoms including seizures, muscle weakness and muscle spasticity. An important gene associated with Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Selenium Micronutrient Network. Affiliated tissues include testes, brain and heart, and related phenotypes are seizures and gait disturbance

OMIM : 57 Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults. In the classic form, both thermostable and thermolabile enzyme variants have been identified (Rosenblatt et al., 1992). (236250)

UniProtKB/Swiss-Prot : 74 Methylenetetrahydrofolate reductase deficiency: Autosomal recessive disorder with a wide range of features including homocysteinuria, homocysteinemia [MIM:603174], developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders.

Wikipedia : 75 Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels... more...

Related Diseases for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

Diseases related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 homocysteinemia 32.2 MTR MTHFR
2 homocystinuria 30.5 MTR MTHFR
3 neural tube defects 29.8 MTR MTHFR
4 megaloblastic anemia 29.5 MTR MTHFR
5 cerebrovascular disease 29.2 MTR MTHFR
6 vascular disease 29.0 MTR MTHFR
7 heart disease 28.7 MTR MTHFR
8 folate malabsorption, hereditary 11.5
9 mthfr gene variant 11.3
10 paraplegia 10.3
11 autosomal recessive disease 10.3
12 encephalopathy 10.2
13 hypotonia 10.2
14 peripheral vascular disease 10.2
15 retinal vein occlusion 10.2
16 constipation 10.2
17 schizophrenia 10.1
18 ocular motor apraxia 10.1
19 stroke, ischemic 10.1
20 thrombosis 10.1
21 polyneuropathy 10.1
22 arteriosclerosis 10.1
23 placenta disease 10.1
24 neuropathy 10.1
25 microcephaly 10.1
26 angelman syndrome 10.0
27 hypertriglyceridemia, familial 10.0
28 ataxia and polyneuropathy, adult-onset 10.0
29 aceruloplasminemia 10.0
30 scoliosis 10.0
31 non-alcoholic fatty liver disease 10.0
32 isolated ectopia lentis 10.0
33 leukodystrophy 10.0
34 placenta praevia 10.0
35 methylmalonic acidemia 10.0
36 hereditary spastic paraplegia 10.0
37 central nervous system disease 10.0
38 thrombophlebitis 10.0
39 myopathy 10.0
40 demyelinating polyneuropathy 10.0
41 peripheral nervous system disease 10.0
42 adenoma 10.0
43 nervous system disease 10.0
44 fatty liver disease 10.0
45 pulmonary embolism 10.0
46 placental abruption 10.0
47 homocystinuria caused by cystathionine beta-synthase deficiency 10.0
48 cerebral folate deficiency 10.0
49 spastic paraparesis 10.0
50 methylmalonic aciduria and homocystinuria, cbld type 9.9

Graphical network of the top 20 diseases related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:



Diseases related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity

Symptoms & Phenotypes for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

Human phenotypes related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 gait disturbance 32 HP:0001288
3 muscle weakness 32 HP:0001324
4 behavioral abnormality 32 HP:0000708
5 global developmental delay 32 HP:0001263
6 microcephaly 32 HP:0000252
7 paresthesia 32 HP:0003401
8 stroke 32 HP:0001297
9 incoordination 32 HP:0002311
10 hyperhomocystinemia 32 HP:0002160
11 homocystinuria 32 HP:0002156

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
stroke
incoordination
developmental delay
paresthesias
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
muscle weakness

Laboratory Abnormalities:
homocystinuria
methylenetetrahydrofolate reductase deficiency
low to normal plasma methionine
homocystinemia

Clinical features from OMIM:

236250

UMLS symptoms related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:


seizures, muscle weakness, muscle spasticity

GenomeRNAi Phenotypes related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.62 MTHFR MTR

Drugs & Therapeutics for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Homocysteine Metabolism in Homocystinuria Completed NCT00004356

Search NIH Clinical Center for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity

Genetic Tests for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

Genetic tests related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:

# Genetic test Affiliating Genes
1 Homocystinuria Due to Mthfr Deficiency 29

Anatomical Context for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

MalaCards organs/tissues related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:

41
Testes, Brain, Heart, Liver, Placenta, Spleen, Breast

Publications for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

Articles related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:

(show top 50) (show all 227)
# Title Authors PMID Year
1
Molecular genetics of methylenetetrahydrofolate reductase deficiency. 9 38 8 71
8892013 1996
2
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency. 38 8 71
17409006 2007
3
Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency. 38 8 71
3347350 1988
4
Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. 38 8 71
6381059 1984
5
Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos. 8 71
11938441 2002
6
Genetic diversity and disease: opportunities and challenge. 8 71
11752418 2001
7
Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase. 8 71
11742092 2001
8
A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? 8 71
9545395 1998
9
Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects. 8 71
9341863 1997
10
Myocardial infarction in young women in relation to plasma total homocysteine, folate, and a common variant in the methylenetetrahydrofolate reductase gene. 8 71
9244205 1997
11
Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease. 8 71
9133512 1997
12
Methylenetetrahydrofolate reductase gene and coronary artery disease. 8 71
8994411 1997
13
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. 8 71
8940272 1996
14
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. 8 71
8826441 1996
15
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. 8 71
8554066 1996
16
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. 8 71
7647779 1995
17
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. 8 71
7920641 1994
18
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation. 9 38 71
12673793 2003
19
Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult. 9 38 71
12406076 2002
20
Methylenetetrahydrofolate reductase deficiency in four siblings: a clinical, biochemical, and molecular study of the family. 9 38 71
10767000 2000
21
Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. 9 38 71
9781030 1998
22
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. 9 38 8
7726158 1995
23
Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers. 9 38 8
8456826 1993
24
Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. 38 8
25024447 2014
25
Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency. 38 71
12840091 2003
26
Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings. 38 8
1866027 1991
27
Prenatal diagnosis of 5,10-methylenetetrahydrofolate reductase deficiency. 38 8
3889647 1985
28
5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case. 38 8
3939530 1985
29
Prenatal diagnosis for methylenetetrahydrofolate reductase deficiency. 38 8
6406655 1983
30
Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy. 38 8
7007598 1981
31
Methylenetetrahydrofolate reductase in cultured human cells. II. Genetic and biochemical studies of methylenetetrahydrofolate reductase deficiency. 38 8
917613 1977
32
Detection of homozygotes and heterozygotes with methylenetetrahydrofolate reductase deficiency. 38 8
886213 1977
33
Morphologic studies in a patient with homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency. 38 8
1272636 1976
34
Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. 71
20154341 2010
35
Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans. 8
18708589 2008
36
Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. 71
18583979 2008
37
Assessment of cumulative evidence on genetic associations: interim guidelines. 71
17898028 2008
38
Contribution of methylenetetrahydrofolate reductase (MTHFR) polymorphisms to negative symptoms in schizophrenia. 71
17543893 2008
39
A meta-analysis of association between C677T polymorphism in the methylenetetrahydrofolate reductase gene and hypertension. 71
17726486 2007
40
The methylenetetrahydrofolate reductase 677C-->T polymorphism as a modulator of a B vitamin network with major effects on homocysteine metabolism. 71
17436239 2007
41
MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer. 71
17350979 2007
42
Modulation of the homocysteine-betaine relationship by methylenetetrahydrofolate reductase 677 C->t genotypes and B-vitamin status in a large-scale epidemiological study. 71
17284634 2007
43
MTHFR C677T polymorphism and migraine with aura. 71
16800002 2006
44
Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population. 71
16712703 2006
45
The thermolabile variant of MTHFR is associated with depression in the British Women's Heart and Health Study and a meta-analysis. 71
16402130 2006
46
Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China. 71
16470725 2006
47
Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene. 71
15951337 2006
48
Homocysteine, methylenetetrahydrofolate reductase and risk of schizophrenia: a meta-analysis. 71
16172608 2006
49
Migraine and MTHFR C677T genotype in a population-based sample. 71
16365871 2006
50
A meta-analysis of the MTHFR C677T polymorphism and schizophrenia risk. 71
15729744 2005

Variations for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

ClinVar genetic disease variations for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MTHFR NM_005957.4(MTHFR): c.1530G> A (p.Lys510=) single nucleotide variant Pathogenic rs765586205 1:11853964-11853964 1:11793907-11793907
2 MTHFR NM_005957.4(MTHFR): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs377443637 1:11854880-11854880 1:11794823-11794823
3 MTHFR NM_005957.4(MTHFR): c.154C> T (p.Arg52Ter) single nucleotide variant Pathogenic rs986604359 1:11863020-11863020 1:11802963-11802963
4 MTHFR NM_005957.4(MTHFR): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs121434294 1:11860308-11860308 1:11800251-11800251
5 MTHFR NM_005957.4(MTHFR): c.470G> A (p.Arg157Gln) single nucleotide variant Pathogenic rs121434295 1:11861223-11861223 1:11801166-11801166
6 MTHFR NM_005957.4(MTHFR): c.971A> G (p.Asn324Ser) single nucleotide variant Pathogenic rs267606887 1:11855215-11855215 1:11795158-11795158
7 MTHFR NM_005957.4(MTHFR): c.1015T> G (p.Trp339Gly) single nucleotide variant Pathogenic rs267606886 1:11855171-11855171 1:11795114-11795114
8 MTHFR MTHFR, 1084C-T single nucleotide variant Pathogenic
9 MTHFR MTHFR, 1711C-T single nucleotide variant Pathogenic
10 MTHFR MTHFR, 1081C-T single nucleotide variant Pathogenic
11 MTHFR NM_005957.4(MTHFR): c.1743G> A (p.Met581Ile) single nucleotide variant Pathogenic rs45590836 1:11851273-11851273 1:11791216-11791216
12 MTHFR NM_005957.4(MTHFR): c.968T> C (p.Leu323Pro) single nucleotide variant Pathogenic rs121434297 1:11855218-11855218 1:11795161-11795161
13 MTHFR NM_005957.4(MTHFR): c.1969T> C (p.Ter657Arg) single nucleotide variant Pathogenic rs768434408 1:11850739-11850739 1:11790682-11790682
14 MTHFR NM_005957.4(MTHFR): c.1883T> C (p.Leu628Pro) single nucleotide variant Pathogenic rs786204037 1:11850825-11850825 1:11790768-11790768
15 MTHFR NM_005957.4(MTHFR): c.1808C> G (p.Ser603Cys) single nucleotide variant Pathogenic rs758206023 1:11850900-11850900 1:11790843-11790843
16 MTHFR NM_005957.4(MTHFR): c.1797_1798delinsGT (p.Tyr599_Glu600delinsTer) indel Pathogenic rs786204035 1:11850910-11850911 1:11790853-11790854
17 MTHFR NM_005957.4(MTHFR): c.1793T> C (p.Leu598Pro) single nucleotide variant Pathogenic rs786204034 1:11850915-11850915 1:11790858-11790858
18 MTHFR NM_005957.4(MTHFR): c.1753-18G> A single nucleotide variant Pathogenic rs777661576 1:11850973-11850973 1:11790916-11790916
19 MTHFR NM_005957.4(MTHFR): c.1752+1G> T single nucleotide variant Pathogenic rs747846362 1:11851263-11851263 1:11791206-11791206
20 MTHFR NM_005957.4(MTHFR): c.1724T> G (p.Val575Gly) single nucleotide variant Pathogenic rs786204031 1:11851292-11851292 1:11791235-11791235
21 MTHFR NM_005957.4(MTHFR): c.1632+2T> G single nucleotide variant Pathogenic rs749765738 1:11852333-11852333 1:11792276-11792276
22 MTHFR NM_005957.4(MTHFR): c.1606G> T (p.Val536Phe) single nucleotide variant Pathogenic rs786204028 1:11852361-11852361 1:11792304-11792304
23 MTHFR NM_005957.4(MTHFR): c.1530+2T> C single nucleotide variant Pathogenic rs786204027 1:11853962-11853962 1:11793905-11793905
24 MTHFR NM_005957.4(MTHFR): c.1516T> G (p.Tyr506Asp) single nucleotide variant Pathogenic rs786204026 1:11853978-11853978 1:11793921-11793921
25 MTHFR NM_005957.4(MTHFR): c.1320G> A (p.Ser440=) single nucleotide variant Pathogenic rs367585605 1:11854442-11854442 1:11794385-11794385
26 MTHFR NM_005957.4(MTHFR): c.1262G> C (p.Trp421Ser) single nucleotide variant Pathogenic rs200137991 1:11854500-11854500 1:11794443-11794443
27 MTHFR NM_005957.4(MTHFR): c.1167-2del deletion Pathogenic rs780014899 1:11854597-11854597 1:11794540-11794540
28 MTHFR NM_005957.4(MTHFR): c.1114A> G (p.Lys372Glu) single nucleotide variant Pathogenic rs786204024 1:11854838-11854838 1:11794781-11794781
29 MTHFR NM_005957.4(MTHFR): c.1088G> A (p.Arg363His) single nucleotide variant Pathogenic rs786204023 1:11854864-11854864 1:11794807-11794807
30 MTHFR NM_005957.4(MTHFR): c.1060C> T (p.His354Tyr) single nucleotide variant Pathogenic rs786204022 1:11854892-11854892 1:11794835-11794835
31 MTHFR NM_005957.4(MTHFR): c.1042C> T (p.Pro348Ser) single nucleotide variant Pathogenic rs786204021 1:11854910-11854910 1:11794853-11794853
32 MTHFR NM_005957.4(MTHFR): c.780+1G> T single nucleotide variant Pathogenic rs786204020 1:11856262-11856262 1:11796205-11796205
33 MTHFR NM_005957.4(MTHFR): c.769T> G (p.Phe257Val) single nucleotide variant Pathogenic rs786204019 1:11856274-11856274 1:11796217-11796217
34 MTHFR NM_005957.4(MTHFR): c.767T> A (p.Ile256Asn) single nucleotide variant Pathogenic rs373398993 1:11856276-11856276 1:11796219-11796219
35 MTHFR NM_005957.4(MTHFR): c.764G> T (p.Gly255Val) single nucleotide variant Pathogenic rs786204018 1:11856279-11856279 1:11796222-11796222
36 MTHFR NM_005957.4(MTHFR): c.760C> T (p.Pro254Ser) single nucleotide variant Pathogenic rs786204017 1:11856283-11856283 1:11796226-11796226
37 MTHFR NM_005957.4(MTHFR): c.671_673TCA[2] (p.Ile226del) short repeat Pathogenic rs786204016 1:11856364-11856366 1:11796307-11796309
38 MTHFR NM_005957.4(MTHFR): c.673A> C (p.Ile225Leu) single nucleotide variant Pathogenic rs200100285 1:11856370-11856370 1:11796313-11796313
39 MTHFR NM_005957.4(MTHFR): c.643_645del (p.Lys215del) deletion Pathogenic rs746353274 1:11856398-11856400 1:11796341-11796343
40 MTHFR NM_005957.4(MTHFR): c.587G> A (p.Gly196Asp) single nucleotide variant Pathogenic rs786204014 1:11856456-11856456 1:11796399-11796399
41 MTHFR NM_005957.4(MTHFR): c.440A> C (p.Gln147Pro) single nucleotide variant Pathogenic rs786204013 1:11861253-11861253 1:11801196-11801196
42 MTHFR NM_005957.4(MTHFR): c.388T> C (p.Cys130Arg) single nucleotide variant Pathogenic rs786204012 1:11861305-11861305 1:11801248-11801248
43 MTHFR NM_005957.4(MTHFR): c.379C> T (p.His127Tyr) single nucleotide variant Pathogenic rs769381688 1:11861314-11861314 1:11801257-11801257
44 MTHFR NM_005957.4(MTHFR): c.337G> A (p.Ala113Thr) single nucleotide variant Pathogenic rs147257424 1:11861356-11861356 1:11801299-11801299
45 MTHFR NM_005957.4(MTHFR): c.264_302dup (p.Leu89_Pro101dup) duplication Pathogenic rs786204010 1:11861391-11861429 1:11801334-11801372
46 MTHFR NM_005957.4(MTHFR): c.244C> T (p.Arg82Trp) single nucleotide variant Pathogenic rs786204009 1:11861449-11861449 1:11801392-11801392
47 MTHFR NM_005957.4(MTHFR): c.202C> G (p.Arg68Gly) single nucleotide variant Pathogenic rs763539350 1:11862972-11862972 1:11802915-11802915
48 MTHFR NM_005957.4(MTHFR): c.176G> C (p.Trp59Ser) single nucleotide variant Pathogenic rs786204007 1:11862998-11862998 1:11802941-11802941
49 MTHFR NM_005957.4(MTHFR): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs776483190 1:11863037-11863037 1:11802980-11802980
50 MTHFR NM_005957.4(MTHFR): c.136C> T (p.Arg46Trp) single nucleotide variant Pathogenic rs138189536 1:11863038-11863038 1:11802981-11802981

UniProtKB/Swiss-Prot genetic disease variations for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity:

74 (show top 50) (show all 53)
# Symbol AA change Variation ID SNP ID
1 MTHFR p.Arg52Gln VAR_004319 rs754980119
2 MTHFR p.Arg157Gln VAR_004320 rs121434295
3 MTHFR p.Thr227Met VAR_004321 rs748571395
4 MTHFR p.Pro251Leu VAR_004322
5 MTHFR p.Arg325Cys VAR_004323 rs371085894
6 MTHFR p.Arg335Cys VAR_004324 rs748289202
7 MTHFR p.Arg357Cys VAR_004325 rs779993607
8 MTHFR p.Arg51Pro VAR_009530 rs201618781
9 MTHFR p.Leu323Pro VAR_009531 rs121434297
10 MTHFR p.Asn324Ser VAR_009532 rs267606887
11 MTHFR p.Trp339Gly VAR_009533 rs267606886
12 MTHFR p.Arg377Cys VAR_009534 rs121434296
13 MTHFR p.Gly387Asp VAR_009535 rs143087249
14 MTHFR p.Pro572Leu VAR_009536 rs144508139
15 MTHFR p.Glu586Lys VAR_009537 rs983672500
16 MTHFR p.Arg46Gln VAR_074111 rs776483190
17 MTHFR p.Arg46Trp VAR_074112 rs138189536
18 MTHFR p.Trp59Ser VAR_074113 rs786204007
19 MTHFR p.Arg68Gly VAR_074114 rs763539350
20 MTHFR p.Arg82Trp VAR_074115 rs786204009
21 MTHFR p.Ala113Thr VAR_074116 rs147257424
22 MTHFR p.His127Tyr VAR_074117 rs769381688
23 MTHFR p.Thr129Asn VAR_074118
24 MTHFR p.Cys130Arg VAR_074119 rs786204012
25 MTHFR p.Gln147Pro VAR_074120 rs786204013
26 MTHFR p.Gly149Val VAR_074121
27 MTHFR p.Ile153Met VAR_074122 rs767890671
28 MTHFR p.Ala175Thr VAR_074123 rs118263598
29 MTHFR p.Arg183Gln VAR_074124 rs574132670
30 MTHFR p.Ala195Val VAR_074125 rs760161369
31 MTHFR p.Gly196Asp VAR_074126 rs786204014
32 MTHFR p.Val218Leu VAR_074128
33 MTHFR p.Ile225Leu VAR_074129 rs200100285
34 MTHFR p.Val253Phe VAR_074131
35 MTHFR p.Pro254Ser VAR_074132 rs786204017
36 MTHFR p.Gly255Val VAR_074133 rs786204018
37 MTHFR p.Ile256Asn VAR_074134 rs373398993
38 MTHFR p.Phe257Val VAR_074135 rs786204019
39 MTHFR p.Arg335His VAR_074136 rs543016186
40 MTHFR p.Met338Thr VAR_074137 rs368321176
41 MTHFR p.Pro348Ser VAR_074138 rs786204021
42 MTHFR p.His354Tyr VAR_074139 rs786204022
43 MTHFR p.Arg363His VAR_074140 rs786204023
44 MTHFR p.Lys372Glu VAR_074141 rs786204024
45 MTHFR p.Arg377His VAR_074142 rs750323424
46 MTHFR p.Trp421Ser VAR_074143 rs200137991
47 MTHFR p.Phe435Ser VAR_074144 rs754015864
48 MTHFR p.Tyr506Asp VAR_074145 rs786204026
49 MTHFR p.Val536Phe VAR_074146 rs786204028
50 MTHFR p.Val574Gly VAR_074147

Expression for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

Search GEO for disease gene expression data for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity.

Pathways for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

Pathways related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.86 MTR MTHFR
2
Show member pathways
11.49 MTR MTHFR
3
Show member pathways
11.28 MTR MTHFR
4
Show member pathways
10.77 MTR MTHFR

GO Terms for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

Biological processes related to Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methionine biosynthetic process GO:0009086 8.62 MTR MTHFR

Sources for Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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