Aliases & Classifications for Hypermethioninemia

MalaCards integrated aliases for Hypermethioninemia:

Name: Hypermethioninemia 12 25 37 29 55 6 15 73
Hepatic Methionine Adenosyltransferase Deficiency 25 29 6 40 73
Glycine N-Methyltransferase Deficiency 25 73
Deficiency of Methionine Adenosyltransferase 25
S-Adenosylhomocysteine Hydrolase Deficiency 25
Deficiency of Acetyl-Coa Acetyltransferase 73
Methionine Adenosyltransferase Deficiency 25
S-Adenosylhomocysteine Hydrolase 13
Gnmt Deficiency 25
Mat Deficiency 25
Methioninemia 25
Met 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050544
KEGG 37 H00184

Summaries for Hypermethioninemia

Genetics Home Reference : 25 Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.

MalaCards based summary : Hypermethioninemia, also known as hepatic methionine adenosyltransferase deficiency, is related to methionine adenosyltransferase i/iii deficiency and glycine n-methyltransferase deficiency, and has symptoms including vomiting An important gene associated with Hypermethioninemia is MAT1A (Methionine Adenosyltransferase 1A), and among its related pathways/superpathways are Cysteine and methionine metabolism and Selenocompound metabolism. The drugs Methionine and Lecithin have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and cortex.

Disease Ontology : 12 An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body.

Wikipedia : 76 Hypermethioninemia is an excess of the amino acid methionine, in the blood. This condition can occur... more...

Related Diseases for Hypermethioninemia

Graphical network of the top 20 diseases related to Hypermethioninemia:



Diseases related to Hypermethioninemia

Symptoms & Phenotypes for Hypermethioninemia

UMLS symptoms related to Hypermethioninemia:


vomiting

Drugs & Therapeutics for Hypermethioninemia

Drugs for Hypermethioninemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
2 Lecithin Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency Completed NCT00006061 Not Applicable phosphatidylcholine

Search NIH Clinical Center for Hypermethioninemia

Genetic Tests for Hypermethioninemia

Genetic tests related to Hypermethioninemia:

# Genetic test Affiliating Genes
1 Hepatic Methionine Adenosyltransferase Deficiency 29 MAT1A
2 Hypermethioninemia 29

Anatomical Context for Hypermethioninemia

MalaCards organs/tissues related to Hypermethioninemia:

41
Brain, Liver, Cortex

Publications for Hypermethioninemia

Articles related to Hypermethioninemia:

(show all 39)
# Title Authors Year
1
Maternal Hypermethioninemia Affects Neurons Number, Neurotrophins Levels, Energy Metabolism, and Na(+),K(+)-ATPase Expression/Content in Brain of Rat Offspring. ( 28084592 )
2017
2
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia. ( 28748147 )
2017
3
[Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia]. ( 28186605 )
2017
4
Mechanistic basis of hypermethioninemia. ( 27465642 )
2016
5
Development of an animal model for gestational hypermethioninemia in rat and its effect on brain Na(+),K (+)-ATPase/Mg (2+)-ATPase activity and oxidative status of the offspring. ( 24248636 )
2013
6
Acute and chronic hypermethioninemia alter Na+ K+-ATPase activity in rat hippocampus: prevention by antioxidants. ( 21354298 )
2011
7
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. ( 21963049 )
2011
8
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia. ( 20675163 )
2010
9
Hypermethioninemia provokes oxidative damage and histological changes in liver of rats. ( 19426780 )
2009
10
Streptococcal pyrogenic exotoxin B cleaves human S-adenosylhomocysteine hydrolase and induces hypermethioninemia. ( 18522500 )
2008
11
Hypermethioninemia increases cerebral acetylcholinesterase activity and impairs memory in rats. ( 17701348 )
2007
12
Reduction of gangliosides, phospholipids and cholesterol content in cerebral cortex of rats caused by chronic hypermethioninemia. ( 17890041 )
2007
13
Effect of hypermethioninemia on some parameters of oxidative stress and on Na(+),K (+)-ATPase activity in hippocampus of rats. ( 17473966 )
2007
14
Chemically induced model of hypermethioninemia in rats. ( 16978704 )
2007
15
Soy protein diet prevents hypermethioninemia caused by portacaval shunt in rats. ( 16953062 )
2006
16
Spectrum of hypermethioninemia in neonatal screening. ( 15935930 )
2005
17
Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap. ( 12765841 )
2003
18
Biochemical basis for the dominant inheritance of hypermethioninemia associated with the R264H mutation of the MAT1A gene. A monomeric methionine adenosyltransferase with tripolyphosphatase activity. ( 11278456 )
2001
19
Molecular genetics of hepatic methionine adenosyltransferase deficiency. ( 10674710 )
2000
20
Isolated hypermethioninemia: measurements of S-adenosylmethionine and choline. ( 11145114 )
2000
21
Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance. ( 9363660 )
1997
22
Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. ( 9042912 )
1997
23
Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry. ( 8598094 )
1996
24
Isolated persistent hypermethioninemia. ( 7573050 )
1995
25
Familial hypermethioninemia partially responsive to dietary restriction. ( 2380820 )
1990
26
Cystathionine-synthase-deficient patients do not use the transamination pathway of methionine to reduce hypermethioninemia and homocystinemia. ( 2725296 )
1989
27
Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency. ( 3339126 )
1988
28
The effects of diet and duration of diabetes on hypermethioninemia in streptozotocin-diabetic rats. ( 3370550 )
1988
29
Hepatic methionine adenosyltransferase deficiency in a 31-year-old man. ( 3812486 )
1987
30
Cholestasis and hypermethioninemia during dietary management of hereditary tyrosinemia type 1. ( 2872285 )
1986
31
A new type of hypermethioninemia in neonates. ( 7157356 )
1982
32
Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients. ( 7229751 )
1981
33
[Hypermethioninemia. Apropos of a case in a consanguineous couple]. ( 7470271 )
1980
34
Hypermethioninemia in an infant. ( 564605 )
1978
35
Abnormal methionine adenosyltransferase in hypermethioninemia. ( 1191305 )
1975
36
Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia. ( 4421454 )
1974
37
Hypermethioninemia with other hyperaminoacidemias. Studies in infants on high-protein diets. ( 5812761 )
1969
38
Tyrosinemia associated with hypermethioninemia and islet cell hyperplasia. ( 4862180 )
1967
39
A patient with tyrosinemia and hypermethioninemia. ( 6050907 )
1967

Variations for Hypermethioninemia

ClinVar genetic disease variations for Hypermethioninemia:

6
(show top 50) (show all 245)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAT1A NM_000429.2(MAT1A): c.966T> G (p.Ile322Met) single nucleotide variant Pathogenic rs118204001 GRCh37 Chromosome 10, 82034395: 82034395
2 MAT1A NM_000429.2(MAT1A): c.966T> G (p.Ile322Met) single nucleotide variant Pathogenic rs118204001 GRCh38 Chromosome 10, 80274639: 80274639
3 MAT1A NM_000429.2(MAT1A): c.164C> A (p.Ala55Asp) single nucleotide variant Pathogenic rs118204002 GRCh37 Chromosome 10, 82045273: 82045273
4 MAT1A NM_000429.2(MAT1A): c.164C> A (p.Ala55Asp) single nucleotide variant Pathogenic rs118204002 GRCh38 Chromosome 10, 80285517: 80285517
5 MAT1A NM_000429.2(MAT1A): c.1070C> T (p.Pro357Leu) single nucleotide variant Pathogenic rs118204003 GRCh37 Chromosome 10, 82034291: 82034291
6 MAT1A NM_000429.2(MAT1A): c.1070C> T (p.Pro357Leu) single nucleotide variant Pathogenic rs118204003 GRCh38 Chromosome 10, 80274535: 80274535
7 MAT1A NM_000429.2(MAT1A): c.914T> C (p.Leu305Pro) single nucleotide variant Pathogenic rs118204004 GRCh37 Chromosome 10, 82034810: 82034810
8 MAT1A NM_000429.2(MAT1A): c.914T> C (p.Leu305Pro) single nucleotide variant Pathogenic rs118204004 GRCh38 Chromosome 10, 80275054: 80275054
9 MAT1A MAT1A, 1-BP INS, 827G insertion Pathogenic
10 MAT1A MAT1A, 2-BP DEL, 1043TG deletion Pathogenic
11 MAT1A NM_000429.2(MAT1A): c.791G> A (p.Arg264His) single nucleotide variant Pathogenic rs72558181 GRCh37 Chromosome 10, 82034933: 82034933
12 MAT1A NM_000429.2(MAT1A): c.791G> A (p.Arg264His) single nucleotide variant Pathogenic rs72558181 GRCh38 Chromosome 10, 80275177: 80275177
13 MAT1A MAT1A, 2-BP INS, 539TG insertion Pathogenic
14 MAT1A NM_000429.2(MAT1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs118204005 GRCh37 Chromosome 10, 82034934: 82034934
15 MAT1A NM_000429.2(MAT1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs118204005 GRCh38 Chromosome 10, 80275178: 80275178
16 MAT1A NM_000429.2(MAT1A): c.1006G> A (p.Gly336Arg) single nucleotide variant Pathogenic rs118204006 GRCh37 Chromosome 10, 82034355: 82034355
17 MAT1A NM_000429.2(MAT1A): c.1006G> A (p.Gly336Arg) single nucleotide variant Pathogenic rs118204006 GRCh38 Chromosome 10, 80274599: 80274599
18 MAT1A NM_000429.2(MAT1A): c.1131C> T (p.Tyr377=) single nucleotide variant Benign rs2993763 GRCh38 Chromosome 10, 80273838: 80273838
19 MAT1A NM_000429.2(MAT1A): c.1131C> T (p.Tyr377=) single nucleotide variant Benign rs2993763 GRCh37 Chromosome 10, 82033594: 82033594
20 MAT1A NM_000429.2(MAT1A): c.1085+14C> T single nucleotide variant Benign rs2994388 GRCh37 Chromosome 10, 82034262: 82034262
21 MAT1A NM_000429.2(MAT1A): c.1085+14C> T single nucleotide variant Benign rs2994388 GRCh38 Chromosome 10, 80274506: 80274506
22 MAT1A NM_000429.2(MAT1A): c.882T> C (p.Ala294=) single nucleotide variant Benign rs10887711 GRCh38 Chromosome 10, 80275086: 80275086
23 MAT1A NM_000429.2(MAT1A): c.882T> C (p.Ala294=) single nucleotide variant Benign rs10887711 GRCh37 Chromosome 10, 82034842: 82034842
24 MAT1A NM_000429.2(MAT1A): c.870A> G (p.Val290=) single nucleotide variant Benign rs10788546 GRCh38 Chromosome 10, 80275098: 80275098
25 MAT1A NM_000429.2(MAT1A): c.870A> G (p.Val290=) single nucleotide variant Benign rs10788546 GRCh37 Chromosome 10, 82034854: 82034854
26 MAT1A NM_000429.2(MAT1A): c.426T> C (p.Ala142=) single nucleotide variant Benign rs1143694 GRCh38 Chromosome 10, 80280296: 80280296
27 MAT1A NM_000429.2(MAT1A): c.426T> C (p.Ala142=) single nucleotide variant Benign rs1143694 GRCh37 Chromosome 10, 82040052: 82040052
28 MAT1A NM_000429.2(MAT1A): c.92-9C> G single nucleotide variant Benign rs10887721 GRCh38 Chromosome 10, 80285598: 80285598
29 MAT1A NM_000429.2(MAT1A): c.92-9C> G single nucleotide variant Benign rs10887721 GRCh37 Chromosome 10, 82045354: 82045354
30 MAT1A NM_000429.2(MAT1A): c.776C> T (p.Ala259Val) single nucleotide variant Pathogenic rs138556525 GRCh37 Chromosome 10, 82034948: 82034948
31 MAT1A NM_000429.2(MAT1A): c.776C> T (p.Ala259Val) single nucleotide variant Pathogenic rs138556525 GRCh38 Chromosome 10, 80275192: 80275192
32 ADK NM_001123.3(ADK): c.-215T> C single nucleotide variant Uncertain significance rs192064997 GRCh37 Chromosome 10, 75936416: 75936416
33 ADK NM_001123.3(ADK): c.-215T> C single nucleotide variant Uncertain significance rs192064997 GRCh38 Chromosome 10, 74176658: 74176658
34 ADK NM_001123.3(ADK): c.-192G> C single nucleotide variant Uncertain significance rs886047233 GRCh37 Chromosome 10, 75936439: 75936439
35 ADK NM_001123.3(ADK): c.-192G> C single nucleotide variant Uncertain significance rs886047233 GRCh38 Chromosome 10, 74176681: 74176681
36 ADK NM_001123.3(ADK): c.-20C> T single nucleotide variant Benign rs10824095 GRCh38 Chromosome 10, 74176853: 74176853
37 ADK NM_001123.3(ADK): c.-20C> T single nucleotide variant Benign rs10824095 GRCh37 Chromosome 10, 75936611: 75936611
38 ADK NM_001123.3(ADK): c.390C> T (p.Asp130=) single nucleotide variant Uncertain significance rs886047236 GRCh38 Chromosome 10, 74394308: 74394308
39 ADK NM_001123.3(ADK): c.390C> T (p.Asp130=) single nucleotide variant Uncertain significance rs886047236 GRCh37 Chromosome 10, 76154066: 76154066
40 ADK NM_001123.3(ADK): c.654T> C (p.Asp218=) single nucleotide variant Likely benign rs16931480 GRCh38 Chromosome 10, 74525405: 74525405
41 ADK NM_001123.3(ADK): c.654T> C (p.Asp218=) single nucleotide variant Likely benign rs16931480 GRCh37 Chromosome 10, 76285163: 76285163
42 ADK NM_001123.3(ADK): c.675+11T> G single nucleotide variant Uncertain significance rs45529443 GRCh38 Chromosome 10, 74525437: 74525437
43 ADK NM_001123.3(ADK): c.675+11T> G single nucleotide variant Uncertain significance rs45529443 GRCh37 Chromosome 10, 76285195: 76285195
44 ADK NM_001123.3(ADK): c.712-9T> C single nucleotide variant Uncertain significance rs780824505 GRCh38 Chromosome 10, 74600370: 74600370
45 ADK NM_001123.3(ADK): c.712-9T> C single nucleotide variant Uncertain significance rs780824505 GRCh37 Chromosome 10, 76360128: 76360128
46 ADK NM_001123.3(ADK): c.*740C> T single nucleotide variant Uncertain significance rs150465356 GRCh38 Chromosome 10, 74709185: 74709185
47 ADK NM_001123.3(ADK): c.*740C> T single nucleotide variant Uncertain significance rs150465356 GRCh37 Chromosome 10, 76468943: 76468943
48 MAT1A NM_000429.2(MAT1A): c.*1382G> A single nucleotide variant Uncertain significance rs886047307 GRCh37 Chromosome 10, 82032155: 82032155
49 MAT1A NM_000429.2(MAT1A): c.*1382G> A single nucleotide variant Uncertain significance rs886047307 GRCh38 Chromosome 10, 80272399: 80272399
50 MAT1A NM_000429.2(MAT1A): c.*995delC deletion Benign rs5786439 GRCh37 Chromosome 10, 82032542: 82032542

Expression for Hypermethioninemia

Search GEO for disease gene expression data for Hypermethioninemia.

Pathways for Hypermethioninemia

Pathways related to Hypermethioninemia according to KEGG:

37
# Name Kegg Source Accession
1 Cysteine and methionine metabolism hsa00270
2 Selenocompound metabolism hsa00450
3 Glycine, serine and threonine metabolism hsa00260
4 Purine metabolism hsa00230

Pathways related to Hypermethioninemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 ADK AHCY CAT CBS GNMT MAT1A
2
Show member pathways
11.76 CAT CBS MAT1A
3
Show member pathways
11.48 AHCY CBS MAT1A
4
Show member pathways
11.26 AHCY CAT CBS MAT1A
5
Show member pathways
11.21 AHCY CBS MAT1A
6
Show member pathways
11.12 CBS GNMT
7
Show member pathways
10.8 CBS MAT1A

GO Terms for Hypermethioninemia

Cellular components related to Hypermethioninemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.1 ADK AHCY CAT CBS GNMT MAT1A

Biological processes related to Hypermethioninemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.43 AHCY GNMT MAT1A
2 response to hypoxia GO:0001666 9.32 AHCY CAT
3 sulfur amino acid metabolic process GO:0000096 9.16 AHCY MAT1A
4 protein homotetramerization GO:0051289 9.13 CAT GNMT MAT1A
5 one-carbon metabolic process GO:0006730 8.8 AHCY GNMT MAT1A

Molecular functions related to Hypermethioninemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 8.96 CAT CBS
2 identical protein binding GO:0042802 8.92 AHCY CBS GNMT MAT1A

Sources for Hypermethioninemia

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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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