MCID: HMC041
MIFTS: 41

Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic 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 73
Methylenetetrahydrofolate Reductase Deficiency 57 76 75 55 73
Homocystinuria Due to Mthfr Deficiency 57 53 29 13 6
Mthfr Deficiency 57 76 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 73
Methylenetetrahydro-Folate Reductase Deficiency 53
Methylene Tetrahydrofolate Reductase Deficiency 59
Mthfrd 75

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:



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 Folate Metabolism. Affiliated tissues include testes, brain and skin, 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 : 75 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 : 76 Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common genetic cause of elevated... 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 all 25)
# Related Disease Score Top Affiliating Genes
1 homocysteinemia 31.2 MTHFR MTR
2 homocystinuria 29.5 MTHFR MTR
3 folate malabsorption, hereditary 11.2
4 mthfr gene variant 11.2
5 paraplegia 9.9
6 neuropathy 9.9
7 angelman syndrome 9.8
8 breast reconstruction 9.8
9 cerebritis 9.8
10 peripheral nervous system disease 9.8
11 pulmonary embolism 9.8
12 encephalopathy 9.8
13 spasticity 9.8
14 vitamin metabolic disorder 9.7 MTHFR MTR
15 neural tube defects, folate-sensitive 9.7 MTHFR MTR
16 vitamin b12 deficiency 9.7 MTHFR MTR
17 transcobalamin ii deficiency 9.6 MTHFR MTR
18 amino acid metabolic disorder 9.6 MTHFR MTR
19 methylmalonic aciduria, cblb type 9.6 MTHFR MTR
20 colorectal adenoma 9.6 MTHFR MTR
21 anencephaly 9.5 MTHFR MTR
22 megaloblastic anemia 9.4 MTHFR MTR
23 cerebrovascular disease 9.3 MTHFR MTR
24 vascular disease 9.2 MTHFR MTR
25 neural tube defects 9.0 MTHFR MTR

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...

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

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 homocystinuria 32 HP:0002156
11 hyperhomocystinemia 32 HP:0002160

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...

Search Clinical Trials , 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, Skin, Heart, Breast, Placenta

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

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

(show all 42)
# Title Authors Year
1
Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report. ( 28241805 )
2017
2
Adult-onset severe methylenetetrahydrofolate reductase deficiency characterized by reversible spastic paraplegia with a novel mutation. ( 27118298 )
2016
3
Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency. ( 21480888 )
2011
4
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. ( 20236116 )
2010
5
Methylenetetrahydrofolate reductase deficiency and low dietary folate reduce tumorigenesis in Apc min/+ mice. ( 19174418 )
2009
6
Hyperhomocysteinemia is associated with hypertriglyceridemia in mice with methylenetetrahydrofolate reductase deficiency. ( 19560954 )
2009
7
Severe skin necrosis after breast reconstruction with a transverse rectus abdominis musculocutaneous flap in methylenetetrahydrofolate reductase deficiency. ( 18774766 )
2009
8
[Case of juvenile stroke caused by methylenetetrahydrofolate reductase deficiency]. ( 18616155 )
2008
9
Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult. ( 18854913 )
2008
10
Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman. ( 18356252 )
2008
11
General anesthesia and methylenetetrahydrofolate reductase deficiency. ( 18008117 )
2007
12
Anesthesia for cesarean section in a patient with placenta previa and methylenetetrahydrofolate reductase deficiency. ( 16980165 )
2006
13
Intrauterine vascular deficiency secondary to methylenetetrahydrofolate reductase deficiency: 2 case reports. ( 16689517 )
2006
14
Maternal methylenetetrahydrofolate reductase deficiency and low dietary folate lead to adverse reproductive outcomes and congenital heart defects in mice. ( 16002818 )
2005
15
Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay. ( 15896655 )
2005
16
Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. ( 15217352 )
2004
17
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency. ( 12733064 )
2003
18
Severe methylenetetrahydrofolate reductase deficiency, methionine synthase, and nitrous oxide--a cautionary tale. ( 12840086 )
2003
19
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation. ( 12673793 )
2003
20
An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait. ( 12142069 )
2002
21
Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult. ( 12406076 )
2002
22
[Methylenetetrahydrofolate reductase deficiency]. ( 11528691 )
2001
23
Methylenetetrahydrofolate reductase deficiency in four siblings: a clinical, biochemical, and molecular study of the family. ( 10767000 )
2000
24
Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis. ( 10961793 )
2000
25
Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography of the brain, MR spectroscopy, and therapeutic attempts in methylenetetrahydrofolate reductase deficiency. ( 10413024 )
1999
26
Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. ( 9781030 )
1998
27
Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene. ( 9762613 )
1998
28
[Methylenetetrahydrofolate reductase deficiency]. ( 9645044 )
1998
29
Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome. ( 9605586 )
1998
30
MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency. ( 9090418 )
1997
31
[An adult case of homocystinuria probably due to methylenetetrahydrofolate-reductase deficiency--treatment with folic acid and the course of coagulation-fibrinolysis parameters]. ( 8752689 )
1996
32
Long term treatment with betaine in methylenetetrahydrofolate reductase deficiency. ( 8787431 )
1996
33
Molecular genetics of methylenetetrahydrofolate reductase deficiency. ( 8892013 )
1996
34
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. ( 7726158 )
1995
35
Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency. ( 8309589 )
1994
36
Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult. ( 8006671 )
1994
37
Methylenetetrahydrofolate reductase deficiency: prenatal diagnosis and family studies. ( 8183835 )
1994
38
Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy. ( 7837762 )
1994
39
Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers. ( 8456826 )
1993
40
Increased neurotoxicity of arsenic in methylenetetrahydrofolate reductase deficiency. ( 1335858 )
1992
41
Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency. ( 2629632 )
1989
42
Folic acid nonresponsive homocystinuria due to methylenetetrahydrofolate reductase deficiency. ( 854378 )
1977

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

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

75 (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
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
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

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

6
(show top 50) (show all 137)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTHFR NM_005957.4(MTHFR): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs121434294 GRCh37 Chromosome 1, 11860308: 11860308
2 MTHFR NM_005957.4(MTHFR): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs121434294 GRCh38 Chromosome 1, 11800251: 11800251
3 MTHFR NM_005957.4(MTHFR): c.470G> A (p.Arg157Gln) single nucleotide variant Pathogenic rs121434295 GRCh37 Chromosome 1, 11861223: 11861223
4 MTHFR NM_005957.4(MTHFR): c.470G> A (p.Arg157Gln) single nucleotide variant Pathogenic rs121434295 GRCh38 Chromosome 1, 11801166: 11801166
5 MTHFR NM_005957.4(MTHFR): c.971A> G (p.Asn324Ser) single nucleotide variant Pathogenic rs267606887 GRCh37 Chromosome 1, 11855215: 11855215
6 MTHFR NM_005957.4(MTHFR): c.971A> G (p.Asn324Ser) single nucleotide variant Pathogenic rs267606887 GRCh38 Chromosome 1, 11795158: 11795158
7 MTHFR NM_005957.4(MTHFR): c.1015T> G (p.Trp339Gly) single nucleotide variant Pathogenic rs267606886 GRCh37 Chromosome 1, 11855171: 11855171
8 MTHFR NM_005957.4(MTHFR): c.1015T> G (p.Trp339Gly) single nucleotide variant Pathogenic rs267606886 GRCh38 Chromosome 1, 11795114: 11795114
9 MTHFR MTHFR, 1084C-T single nucleotide variant Pathogenic
10 MTHFR MTHFR, 1711C-T single nucleotide variant Pathogenic
11 MTHFR MTHFR, 1081C-T single nucleotide variant Pathogenic
12 MTHFR NM_005957.4(MTHFR): c.1743G> A (p.Met581Ile) single nucleotide variant Pathogenic rs45590836 GRCh37 Chromosome 1, 11851273: 11851273
13 MTHFR NM_005957.4(MTHFR): c.1743G> A (p.Met581Ile) single nucleotide variant Pathogenic rs45590836 GRCh38 Chromosome 1, 11791216: 11791216
14 MTHFR NM_005957.4(MTHFR): c.968T> C (p.Leu323Pro) single nucleotide variant Pathogenic rs121434297 GRCh37 Chromosome 1, 11855218: 11855218
15 MTHFR NM_005957.4(MTHFR): c.968T> C (p.Leu323Pro) single nucleotide variant Pathogenic rs121434297 GRCh38 Chromosome 1, 11795161: 11795161
16 MTHFR NM_005957.4(MTHFR): c.1753-18G> A single nucleotide variant Pathogenic rs777661576 GRCh37 Chromosome 1, 11850973: 11850973
17 MTHFR NM_005957.4(MTHFR): c.677_679delTCA (p.Ile226del) deletion Pathogenic rs786204016 GRCh37 Chromosome 1, 11856364: 11856366
18 MTHFR NM_005957.4(MTHFR): c.1752+1G> T single nucleotide variant Pathogenic rs747846362 GRCh38 Chromosome 1, 11791206: 11791206
19 MTHFR NM_005957.4(MTHFR): c.1752+1G> T single nucleotide variant Pathogenic rs747846362 GRCh37 Chromosome 1, 11851263: 11851263
20 MTHFR NM_005957.4(MTHFR): c.1969T> C (p.Ter657Arg) single nucleotide variant Pathogenic rs768434408 GRCh38 Chromosome 1, 11790682: 11790682
21 MTHFR NM_005957.4(MTHFR): c.1969T> C (p.Ter657Arg) single nucleotide variant Pathogenic rs768434408 GRCh37 Chromosome 1, 11850739: 11850739
22 MTHFR NM_005957.4(MTHFR): c.1883T> C (p.Leu628Pro) single nucleotide variant Pathogenic rs786204037 GRCh38 Chromosome 1, 11790768: 11790768
23 MTHFR NM_005957.4(MTHFR): c.1883T> C (p.Leu628Pro) single nucleotide variant Pathogenic rs786204037 GRCh37 Chromosome 1, 11850825: 11850825
24 MTHFR NM_005957.4(MTHFR): c.1808C> G (p.Ser603Cys) single nucleotide variant Pathogenic rs758206023 GRCh37 Chromosome 1, 11850900: 11850900
25 MTHFR NM_005957.4(MTHFR): c.1808C> G (p.Ser603Cys) single nucleotide variant Pathogenic rs758206023 GRCh38 Chromosome 1, 11790843: 11790843
26 MTHFR NM_005957.4(MTHFR): c.1797_1798delTGinsGT (p.Tyr599Ter) indel Pathogenic rs786204035 GRCh37 Chromosome 1, 11850910: 11850911
27 MTHFR NM_005957.4(MTHFR): c.1797_1798delTGinsGT (p.Tyr599Ter) indel Pathogenic rs786204035 GRCh38 Chromosome 1, 11790853: 11790854
28 MTHFR NM_005957.4(MTHFR): c.1793T> C (p.Leu598Pro) single nucleotide variant Pathogenic rs786204034 GRCh38 Chromosome 1, 11790858: 11790858
29 MTHFR NM_005957.4(MTHFR): c.1793T> C (p.Leu598Pro) single nucleotide variant Pathogenic rs786204034 GRCh37 Chromosome 1, 11850915: 11850915
30 MTHFR NM_005957.4(MTHFR): c.1753-18G> A single nucleotide variant Pathogenic rs777661576 GRCh38 Chromosome 1, 11790916: 11790916
31 MTHFR NM_005957.4(MTHFR): c.1724T> G (p.Val575Gly) single nucleotide variant Pathogenic rs786204031 GRCh38 Chromosome 1, 11791235: 11791235
32 MTHFR NM_005957.4(MTHFR): c.1724T> G (p.Val575Gly) single nucleotide variant Pathogenic rs786204031 GRCh37 Chromosome 1, 11851292: 11851292
33 MTHFR NM_005957.4(MTHFR): c.1683G> A (p.Trp561Ter) single nucleotide variant Pathogenic rs786204030 GRCh37 Chromosome 1, 11851333: 11851333
34 MTHFR NM_005957.4(MTHFR): c.1683G> A (p.Trp561Ter) single nucleotide variant Pathogenic rs786204030 GRCh38 Chromosome 1, 11791276: 11791276
35 MTHFR NM_005957.4(MTHFR): c.1632+2T> G single nucleotide variant Pathogenic rs749765738 GRCh38 Chromosome 1, 11792276: 11792276
36 MTHFR NM_005957.4(MTHFR): c.1632+2T> G single nucleotide variant Pathogenic rs749765738 GRCh37 Chromosome 1, 11852333: 11852333
37 MTHFR NM_005957.4(MTHFR): c.1606G> T (p.Val536Phe) single nucleotide variant Pathogenic rs786204028 GRCh38 Chromosome 1, 11792304: 11792304
38 MTHFR NM_005957.4(MTHFR): c.1606G> T (p.Val536Phe) single nucleotide variant Pathogenic rs786204028 GRCh37 Chromosome 1, 11852361: 11852361
39 MTHFR NM_005957.4(MTHFR): c.1530+2T> C single nucleotide variant Pathogenic rs786204027 GRCh38 Chromosome 1, 11793905: 11793905
40 MTHFR NM_005957.4(MTHFR): c.1530+2T> C single nucleotide variant Pathogenic rs786204027 GRCh37 Chromosome 1, 11853962: 11853962
41 MTHFR NM_005957.4(MTHFR): c.1516T> G (p.Tyr506Asp) single nucleotide variant Pathogenic rs786204026 GRCh38 Chromosome 1, 11793921: 11793921
42 MTHFR NM_005957.4(MTHFR): c.1516T> G (p.Tyr506Asp) single nucleotide variant Pathogenic rs786204026 GRCh37 Chromosome 1, 11853978: 11853978
43 MTHFR NM_005957.4(MTHFR): c.1320G> A (p.Ser440=) single nucleotide variant Pathogenic rs367585605 GRCh38 Chromosome 1, 11794385: 11794385
44 MTHFR NM_005957.4(MTHFR): c.1320G> A (p.Ser440=) single nucleotide variant Pathogenic rs367585605 GRCh37 Chromosome 1, 11854442: 11854442
45 MTHFR NM_005957.4(MTHFR): c.1262G> C (p.Trp421Ser) single nucleotide variant Pathogenic rs200137991 GRCh37 Chromosome 1, 11854500: 11854500
46 MTHFR NM_005957.4(MTHFR): c.1262G> C (p.Trp421Ser) single nucleotide variant Pathogenic rs200137991 GRCh38 Chromosome 1, 11794443: 11794443
47 MTHFR NM_005957.4(MTHFR): c.1167-2delA deletion Pathogenic rs780014899 GRCh37 Chromosome 1, 11854597: 11854597
48 MTHFR NM_005957.4(MTHFR): c.1167-2delA deletion Pathogenic rs780014899 GRCh38 Chromosome 1, 11794540: 11794540
49 MTHFR NM_005957.4(MTHFR): c.1114A> G (p.Lys372Glu) single nucleotide variant Pathogenic rs786204024 GRCh37 Chromosome 1, 11854838: 11854838
50 MTHFR NM_005957.4(MTHFR): c.1114A> G (p.Lys372Glu) single nucleotide variant Pathogenic rs786204024 GRCh38 Chromosome 1, 11794781: 11794781

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 MTHFR MTR
2
Show member pathways
11.49 MTHFR MTR
3
Show member pathways
11.28 MTHFR MTR
4
Show member pathways
10.77 MTHFR MTR

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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38 LifeMap
40 LOVD
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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