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 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 Selenium Micronutrient Network. Affiliated tissues include testes, brain and placenta, 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...

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, Placenta, Skin, Liver, Heart, Spleen

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 87)
# Title Authors Year
1
Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult. ( 29366491 )
2018
2
Methylenetetrahydrofolate Reductase Deficiency Deregulates Regional Brain Amyloid-β Protein Precursor Expression and Phosphorylation Levels. ( 29865064 )
2018
3
Methylenetetrahydrofolate Reductase Deficiency: Rare but Considerable. ( 30140526 )
2018
4
RE: Methylenetetrahydrofolate Reductase Deficiency: Rare but Considerable. ( 30140527 )
2018
5
Mild Methylenetetrahydrofolate Reductase Deficiency Alters Inflammatory and Lipid Pathways in Liver. ( 30408316 )
2018
6
Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report. ( 28241805 )
2017
7
Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia. ( 29284203 )
2017
8
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. ( 27743313 )
2017
9
Adult-onset severe methylenetetrahydrofolate reductase deficiency characterized by reversible spastic paraplegia with a novel mutation. ( 27118298 )
2016
10
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency. ( 26872964 )
2016
11
Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency. ( 26898294 )
2016
12
Erratum to: Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency. ( 27325425 )
2016
13
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. ( 25736335 )
2015
14
Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency. ( 24726568 )
2015
15
Methylenetetrahydrofolate reductase deficiency alters levels of glutamate and γ-aminobutyric acid in brain tissue. ( 26937386 )
2015
16
Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia. ( 24797679 )
2014
17
Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency. ( 24323041 )
2014
18
Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. ( 25024447 )
2014
19
Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy. ( 25079578 )
2014
20
Low dietary folate and methylenetetrahydrofolate reductase deficiency may lead to pregnancy complications through modulation of ApoAI and IFN-γ in spleen and placenta, and through reduction of methylation potential. ( 23112124 )
2013
21
Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus. ( 22521626 )
2012
22
5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant. ( 20850942 )
2011
23
Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency. ( 21480888 )
2011
24
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. ( 20236116 )
2010
25
Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency. ( 19434424 )
2010
26
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. ( 20394947 )
2010
27
Methylenetetrahydrofolate reductase deficiency and low dietary folate reduce tumorigenesis in Apc min/+ mice. ( 19174418 )
2009
28
Hyperhomocysteinemia is associated with hypertriglyceridemia in mice with methylenetetrahydrofolate reductase deficiency. ( 19560954 )
2009
29
Severe skin necrosis after breast reconstruction with a transverse rectus abdominis musculocutaneous flap in methylenetetrahydrofolate reductase deficiency. ( 18774766 )
2009
30
Methylenetetrahydrofolate reductase deficiency and low dietary folate increase embryonic delay and placental abnormalities in mice. ( 19215022 )
2009
31
[Case of juvenile stroke caused by methylenetetrahydrofolate reductase deficiency]. ( 18616155 )
2008
32
Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult. ( 18854913 )
2008
33
Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman. ( 18356252 )
2008
34
Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency. ( 18415702 )
2008
35
General anesthesia and methylenetetrahydrofolate reductase deficiency. ( 18008117 )
2007
36
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency. ( 17409006 )
2007
37
Anesthesia for cesarean section in a patient with placenta previa and methylenetetrahydrofolate reductase deficiency. ( 16980165 )
2006
38
Intrauterine vascular deficiency secondary to methylenetetrahydrofolate reductase deficiency: 2 case reports. ( 16689517 )
2006
39
Impact of methylenetetrahydrofolate reductase deficiency and low dietary folate on the development of neural tube defects in splotch mice. ( 16397891 )
2006
40
Maternal methylenetetrahydrofolate reductase deficiency and low dietary folate lead to adverse reproductive outcomes and congenital heart defects in mice. ( 16002818 )
2005
41
Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay. ( 15896655 )
2005
42
Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. ( 15217352 )
2004
43
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency. ( 12733064 )
2003
44
Severe methylenetetrahydrofolate reductase deficiency, methionine synthase, and nitrous oxide--a cautionary tale. ( 12840086 )
2003
45
Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation. ( 12673793 )
2003
46
Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency. ( 12551843 )
2003
47
Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency. ( 12840091 )
2003
48
An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait. ( 12142069 )
2002
49
Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult. ( 12406076 )
2002
50
Microarray analysis of brain RNA in mice with methylenetetrahydrofolate reductase deficiency and hyperhomocysteinemia. ( 15018804 )
2002

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 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

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

6 (show top 50) (show all 149)
# Gene Variation Type Significance SNP ID Assembly Location
1 MTHFR NM_005957.4(MTHFR): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs121434294 GRCh38 Chromosome 1, 11800251: 11800251
2 MTHFR MTHFR, 1711C-T single nucleotide variant Pathogenic
3 MTHFR MTHFR, 1081C-T single nucleotide variant Pathogenic
4 MTHFR NM_005957.4(MTHFR): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs121434294 GRCh37 Chromosome 1, 11860308: 11860308
5 MTHFR NM_005957.4(MTHFR): c.470G> A (p.Arg157Gln) single nucleotide variant Pathogenic rs121434295 GRCh37 Chromosome 1, 11861223: 11861223
6 MTHFR NM_005957.4(MTHFR): c.470G> A (p.Arg157Gln) single nucleotide variant Pathogenic rs121434295 GRCh38 Chromosome 1, 11801166: 11801166
7 MTHFR NM_005957.4(MTHFR): c.971A> G (p.Asn324Ser) single nucleotide variant Pathogenic rs267606887 GRCh37 Chromosome 1, 11855215: 11855215
8 MTHFR NM_005957.4(MTHFR): c.971A> G (p.Asn324Ser) single nucleotide variant Pathogenic rs267606887 GRCh38 Chromosome 1, 11795158: 11795158
9 MTHFR NM_005957.4(MTHFR): c.1015T> G (p.Trp339Gly) single nucleotide variant Pathogenic rs267606886 GRCh37 Chromosome 1, 11855171: 11855171
10 MTHFR NM_005957.4(MTHFR): c.1015T> G (p.Trp339Gly) single nucleotide variant Pathogenic rs267606886 GRCh38 Chromosome 1, 11795114: 11795114
11 MTHFR MTHFR, 1084C-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.1129C> T (p.Arg377Cys) single nucleotide variant Uncertain significance rs121434296 GRCh37 Chromosome 1, 11854823: 11854823
15 MTHFR NM_005957.4(MTHFR): c.1129C> T (p.Arg377Cys) single nucleotide variant Uncertain significance rs121434296 GRCh38 Chromosome 1, 11794766: 11794766
16 MTHFR NM_005957.4(MTHFR): c.968T> C (p.Leu323Pro) single nucleotide variant Pathogenic rs121434297 GRCh37 Chromosome 1, 11855218: 11855218
17 MTHFR NM_005957.4(MTHFR): c.968T> C (p.Leu323Pro) single nucleotide variant Pathogenic rs121434297 GRCh38 Chromosome 1, 11795161: 11795161
18 MTHFR NM_005957.4(MTHFR): c.1969T> C (p.Ter657Arg) single nucleotide variant Pathogenic rs768434408 GRCh38 Chromosome 1, 11790682: 11790682
19 MTHFR NM_005957.4(MTHFR): c.1969T> C (p.Ter657Arg) single nucleotide variant Pathogenic rs768434408 GRCh37 Chromosome 1, 11850739: 11850739
20 MTHFR NM_005957.4(MTHFR): c.1883T> C (p.Leu628Pro) single nucleotide variant Pathogenic rs786204037 GRCh38 Chromosome 1, 11790768: 11790768
21 MTHFR NM_005957.4(MTHFR): c.1883T> C (p.Leu628Pro) single nucleotide variant Pathogenic rs786204037 GRCh37 Chromosome 1, 11850825: 11850825
22 MTHFR NM_005957.4(MTHFR): c.1808C> G (p.Ser603Cys) single nucleotide variant Pathogenic rs758206023 GRCh37 Chromosome 1, 11850900: 11850900
23 MTHFR NM_005957.4(MTHFR): c.1808C> G (p.Ser603Cys) single nucleotide variant Pathogenic rs758206023 GRCh38 Chromosome 1, 11790843: 11790843
24 MTHFR NM_005957.4(MTHFR): c.1797_1798delTGinsGT (p.Tyr599Ter) indel Pathogenic rs786204035 GRCh37 Chromosome 1, 11850910: 11850911
25 MTHFR NM_005957.4(MTHFR): c.1797_1798delTGinsGT (p.Tyr599Ter) indel Pathogenic rs786204035 GRCh38 Chromosome 1, 11790853: 11790854
26 MTHFR NM_005957.4(MTHFR): c.1793T> C (p.Leu598Pro) single nucleotide variant Pathogenic rs786204034 GRCh38 Chromosome 1, 11790858: 11790858
27 MTHFR NM_005957.4(MTHFR): c.1793T> C (p.Leu598Pro) single nucleotide variant Pathogenic rs786204034 GRCh37 Chromosome 1, 11850915: 11850915
28 MTHFR NM_005957.4(MTHFR): c.1753-18G> A single nucleotide variant Pathogenic rs777661576 GRCh38 Chromosome 1, 11790916: 11790916
29 MTHFR NM_005957.4(MTHFR): c.1753-18G> A single nucleotide variant Pathogenic rs777661576 GRCh37 Chromosome 1, 11850973: 11850973
30 MTHFR NM_005957.4(MTHFR): c.1752+1G> T single nucleotide variant Pathogenic rs747846362 GRCh38 Chromosome 1, 11791206: 11791206
31 MTHFR NM_005957.4(MTHFR): c.1752+1G> T single nucleotide variant Pathogenic rs747846362 GRCh37 Chromosome 1, 11851263: 11851263
32 MTHFR NM_005957.4(MTHFR): c.1724T> G (p.Val575Gly) single nucleotide variant Pathogenic rs786204031 GRCh38 Chromosome 1, 11791235: 11791235
33 MTHFR NM_005957.4(MTHFR): c.1724T> G (p.Val575Gly) single nucleotide variant Pathogenic rs786204031 GRCh37 Chromosome 1, 11851292: 11851292
34 MTHFR NM_005957.4(MTHFR): c.1683G> A (p.Trp561Ter) single nucleotide variant risk factor rs786204030 GRCh37 Chromosome 1, 11851333: 11851333
35 MTHFR NM_005957.4(MTHFR): c.1683G> A (p.Trp561Ter) single nucleotide variant risk factor rs786204030 GRCh38 Chromosome 1, 11791276: 11791276
36 MTHFR NM_005957.4(MTHFR): c.1632+2T> G single nucleotide variant Pathogenic rs749765738 GRCh38 Chromosome 1, 11792276: 11792276
37 MTHFR NM_005957.4(MTHFR): c.1632+2T> G single nucleotide variant Pathogenic rs749765738 GRCh37 Chromosome 1, 11852333: 11852333
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.1606G> T (p.Val536Phe) single nucleotide variant Pathogenic rs786204028 GRCh38 Chromosome 1, 11792304: 11792304
40 MTHFR NM_005957.4(MTHFR): c.1530+2T> C single nucleotide variant Pathogenic rs786204027 GRCh38 Chromosome 1, 11793905: 11793905
41 MTHFR NM_005957.4(MTHFR): c.1530+2T> C single nucleotide variant Pathogenic rs786204027 GRCh37 Chromosome 1, 11853962: 11853962
42 MTHFR NM_005957.4(MTHFR): c.1516T> G (p.Tyr506Asp) single nucleotide variant Pathogenic rs786204026 GRCh38 Chromosome 1, 11793921: 11793921
43 MTHFR NM_005957.4(MTHFR): c.1516T> G (p.Tyr506Asp) single nucleotide variant Pathogenic rs786204026 GRCh37 Chromosome 1, 11853978: 11853978
44 MTHFR NM_005957.4(MTHFR): c.1320G> A (p.Ser440=) single nucleotide variant Pathogenic rs367585605 GRCh38 Chromosome 1, 11794385: 11794385
45 MTHFR NM_005957.4(MTHFR): c.1320G> A (p.Ser440=) single nucleotide variant Pathogenic rs367585605 GRCh37 Chromosome 1, 11854442: 11854442
46 MTHFR NM_005957.4(MTHFR): c.1262G> C (p.Trp421Ser) single nucleotide variant Pathogenic rs200137991 GRCh37 Chromosome 1, 11854500: 11854500
47 MTHFR NM_005957.4(MTHFR): c.1262G> C (p.Trp421Ser) single nucleotide variant Pathogenic rs200137991 GRCh38 Chromosome 1, 11794443: 11794443
48 MTHFR NM_005957.4(MTHFR): c.1167-2delA deletion Pathogenic rs780014899 GRCh37 Chromosome 1, 11854597: 11854597
49 MTHFR NM_005957.4(MTHFR): c.1167-2delA deletion Pathogenic rs780014899 GRCh38 Chromosome 1, 11794540: 11794540
50 MTHFR NM_005957.4(MTHFR): c.1114A> G (p.Lys372Glu) single nucleotide variant Pathogenic rs786204024 GRCh37 Chromosome 1, 11854838: 11854838

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

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 MTHFR MTR

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
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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