MATD
MCID: MTH074
MIFTS: 43

Methionine Adenosyltransferase I/iii Deficiency (MATD)

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

Aliases & Classifications for Methionine Adenosyltransferase I/iii Deficiency

MalaCards integrated aliases for Methionine Adenosyltransferase I/iii Deficiency:

Name: Methionine Adenosyltransferase I/iii Deficiency 57
Mat I/iii Deficiency 57 58 72 6
Mat Deficiency 57 58 72
Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency 57 13
Methionine Adenosyltransferase Deficiency, Autosomal Recessive 57 29
Methionine Adenosyltransferase Deficiency 58 72
Brain Demyelination Due to Methionine Adenosyltransferase Deficiency 58
Hepatic Methionine Adenosyltransferase Deficiency 70
Deficiency of Acetyl-Coa Acetyltransferase 70
Hypermethioninemia, Isolated Persistent 57
Isolated Persistent Hypermethioninemia 72
Matd 72

Characteristics:

Orphanet epidemiological data:

58
brain demyelination due to methionine adenosyltransferase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
most patients are clinically asymptomatic
patient with truncating mutations are more likely to develop neurologic abnormalities


HPO:

31
methionine adenosyltransferase i/iii deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 250850
MeSH 44 D000592
ICD10 via Orphanet 33 E72.1
UMLS via Orphanet 71 C0268621
Orphanet 58 ORPHA168598
UMLS 70 C0268621 C1536500

Summaries for Methionine Adenosyltransferase I/iii Deficiency

OMIM® : 57 Methionine adenosyltransferase deficiency is an inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some with the autosomal recessive form have have neurologic abnormalities (Mudd et al., 2003; Kim et al., 2016). (250850) (Updated 20-May-2021)

MalaCards based summary : Methionine Adenosyltransferase I/iii Deficiency, also known as mat i/iii deficiency, is related to glycine n-methyltransferase deficiency and hypermethioninemia, and has symptoms including vomiting An important gene associated with Methionine Adenosyltransferase I/iii Deficiency is MAT1A (Methionine Adenosyltransferase 1A), and among its related pathways/superpathways are Viral mRNA Translation and Glucose / Energy Metabolism. The drugs Methionine and Lecithin have been mentioned in the context of this disorder. Affiliated tissues include brain and liver, and related phenotypes are intellectual disability and hyperreflexia

UniProtKB/Swiss-Prot : 72 Methionine adenosyltransferase deficiency: An inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic symptoms may be present in rare cases with severe loss of methionine adenosyltransferase activity.

Related Diseases for Methionine Adenosyltransferase I/iii Deficiency

Graphical network of the top 20 diseases related to Methionine Adenosyltransferase I/iii Deficiency:



Diseases related to Methionine Adenosyltransferase I/iii Deficiency

Symptoms & Phenotypes for Methionine Adenosyltransferase I/iii Deficiency

Human phenotypes related to Methionine Adenosyltransferase I/iii Deficiency:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 hyperreflexia 31 HP:0001347
3 dystonia 31 HP:0001332
4 peripheral demyelination 31 HP:0011096
5 cns demyelination 31 HP:0007305
6 hypermethioninemia 31 HP:0003235
7 halitosis 31 HP:0100812

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
dystonia
mental retardation (in some patients)
demyelination
neurologic involvement is rare

Laboratory Abnormalities:
increased serum methionine

Head And Neck Mouth:
fetid breath due to increased dimethylsulfide
extraoral halitosis

Clinical features from OMIM®:

250850 (Updated 20-May-2021)

UMLS symptoms related to Methionine Adenosyltransferase I/iii Deficiency:


vomiting

Drugs & Therapeutics for Methionine Adenosyltransferase I/iii Deficiency

Drugs for Methionine Adenosyltransferase I/iii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methionine Approved, Nutraceutical 63-68-3 6137
2
Lecithin Experimental 8002-43-5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Phosphatidylcholine in a Patient With Methionine Adenosyltransferase Deficiency Completed NCT00006061 phosphatidylcholine

Search NIH Clinical Center for Methionine Adenosyltransferase I/iii Deficiency

Genetic Tests for Methionine Adenosyltransferase I/iii Deficiency

Genetic tests related to Methionine Adenosyltransferase I/iii Deficiency:

# Genetic test Affiliating Genes
1 Methionine Adenosyltransferase Deficiency, Autosomal Recessive 29

Anatomical Context for Methionine Adenosyltransferase I/iii Deficiency

MalaCards organs/tissues related to Methionine Adenosyltransferase I/iii Deficiency:

40
Brain, Liver

Publications for Methionine Adenosyltransferase I/iii Deficiency

Articles related to Methionine Adenosyltransferase I/iii Deficiency:

(show all 50)
# Title Authors PMID Year
1
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies. 57 6 61
26933843 2016
2
Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. 57 6 61
9042912 1997
3
Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. 61 6 57
8770875 1996
4
Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III. 6 57
9482646 1998
5
Isolated persistent hypermethioninemia. 6 57
7573050 1995
6
Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. 6 57
7560086 1995
7
Persistent hypermethioninaemia with dominant inheritance. 6 57
1527987 1992
8
Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway. 6 57
1683972 1991
9
Hepatic methionine adenosyltransferase deficiency in a 31-year-old man. 6 57
3812486 1987
10
Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients. 57 6
7229751 1981
11
Methionine adenosyltransferase deficiency: new enzymatic defect associated with hypermethioninemia. 6 57
4421454 1974
12
Neonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract. 61 6
30389272 2019
13
Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia. 61 6
28748147 2017
14
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. 61 6
26289392 2015
15
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula. 61 6
25638462 2015
16
Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan. 6 61
24231718 2013
17
Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands. 61 6
23430947 2012
18
Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme. 61 6
18500573 2008
19
Maternal methionine adenosyltransferase I/III deficiency: reproductive outcomes in a woman with four pregnancies. 57 61
14518826 2003
20
Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation. 61 57
12705496 2002
21
Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. 6 61
10677294 2000
22
[Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia]. 6
28186605 2017
23
Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience. 6
24445979 2014
24
Insight into S-adenosylmethionine biosynthesis from the crystal structures of the human methionine adenosyltransferase catalytic and regulatory subunits. 6
23425511 2013
25
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia. 6
20675163 2010
26
Spectrum of hypermethioninemia in neonatal screening. 6
15935930 2005
27
Biochemical basis for the dominant inheritance of hypermethioninemia associated with the R264H mutation of the MAT1A gene. A monomeric methionine adenosyltransferase with tripolyphosphatase activity. 6
11278456 2001
28
Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency. 57
3339126 1988
29
Methioninemia and myopathy: a new disorder. 57
7271238 1981
30
Hypermethioninemia in an infant. 57
564605 1978
31
[Still another cause of hypermethioninemia in children: S-adenosylmethionine synthetase deficiency]. 57
889406 1977
32
Abnormal methionine adenosyltransferase in hypermethioninemia. 57
1191305 1975
33
Studies on ethionine. VI. Sex-dependent behavior of methionine and ethionine in rats. 57
13937716 1963
34
Methionine adenosyltransferase I/III deficiency: Long-term follow-up and treatment of 3 adult siblings. 61
32980525 2020
35
[Newborn screening and variant analysis for methionine adenosyltransferase I/III deficiency]. 61
32335878 2020
36
Analysis of five cases of hypermethioninemia diagnosed by neonatal screening. 61
31851615 2020
37
Newborn screening for homocystinurias: Recent recommendations versus current practice. 61
30740731 2019
38
Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations. 61
29440907 2018
39
Attenuated brain lesion on magnetic resonance imaging in an adult patient with methionine adenosyltransferase I/III deficiency. 61
28247119 2017
40
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. 61
27671891 2017
41
Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221]. 61
25877476 2015
42
Neurologically normal development of a patient with severe methionine adenosyltransferase I/III deficiency after continuing dietary methionine restriction. 61
23973726 2013
43
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening. 61
23993429 2013
44
Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine. 61
22951388 2012
45
S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report. 61
22178350 2012
46
Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional (1)H and two-dimensional (1)H-(13)C NMR. 61
15996001 2005
47
Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases. 61
16435220 2005
48
Reversible white matter lesion in methionine adenosyltransferase I/III deficiency. 61
15569761 2004
49
Glycine N -methyltransferase deficiency: a new patient with a novel mutation. 61
14739680 2003
50
Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiency. 61
12145770 2002

Variations for Methionine Adenosyltransferase I/iii Deficiency

ClinVar genetic disease variations for Methionine Adenosyltransferase I/iii Deficiency:

6 (show top 50) (show all 152)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAT1A NM_000429.3(MAT1A):c.914T>C (p.Leu305Pro) SNV Pathogenic 1205 rs118204004 GRCh37: 10:82034810-82034810
GRCh38: 10:80275054-80275054
2 MAT1A MAT1A, 1-BP INS, 827G Insertion Pathogenic 1206 GRCh37:
GRCh38:
3 MAT1A MAT1A, 2-BP DEL, 1043TG Deletion Pathogenic 1207 GRCh37:
GRCh38:
4 MAT1A NM_000429.3(MAT1A):c.791G>A (p.Arg264His) SNV Pathogenic 1208 rs72558181 GRCh37: 10:82034933-82034933
GRCh38: 10:80275177-80275177
5 MAT1A MAT1A, 2-BP INS, 539TG Insertion Pathogenic 1209 GRCh37:
GRCh38:
6 MAT1A NM_000429.3(MAT1A):c.790C>T (p.Arg264Cys) SNV Pathogenic 1210 rs118204005 GRCh37: 10:82034934-82034934
GRCh38: 10:80275178-80275178
7 MAT1A NM_000429.3(MAT1A):c.1006G>A (p.Gly336Arg) SNV Pathogenic 1211 rs118204006 GRCh37: 10:82034355-82034355
GRCh38: 10:80274599-80274599
8 MAT1A NM_000429.3(MAT1A):c.966T>G (p.Ile322Met) SNV Pathogenic 1202 rs118204001 GRCh37: 10:82034395-82034395
GRCh38: 10:80274639-80274639
9 MAT1A NM_000429.3(MAT1A):c.164C>A (p.Ala55Asp) SNV Pathogenic 1203 rs118204002 GRCh37: 10:82045273-82045273
GRCh38: 10:80285517-80285517
10 MAT1A NM_000429.3(MAT1A):c.776C>T (p.Ala259Val) SNV Pathogenic 279845 rs138556525 GRCh37: 10:82034948-82034948
GRCh38: 10:80275192-80275192
11 MAT1A NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys) SNV Pathogenic 418870 rs376993881 GRCh37: 10:82034829-82034829
GRCh38: 10:80275073-80275073
12 MAT1A NM_000429.3(MAT1A):c.1066C>T (p.Arg356Trp) SNV Pathogenic 834512 GRCh37: 10:82034295-82034295
GRCh38: 10:80274539-80274539
13 MAT1A NM_000429.3(MAT1A):c.14_15dup (p.Asp6fs) Duplication Pathogenic 1032353 GRCh37: 10:82049164-82049165
GRCh38: 10:80289408-80289409
14 MAT1A NM_000429.3(MAT1A):c.92-2A>C SNV Likely pathogenic 959849 GRCh37: 10:82045347-82045347
GRCh38: 10:80285591-80285591
15 MAT1A NM_000429.3(MAT1A):c.896G>A (p.Arg299His) SNV Likely pathogenic 858071 GRCh37: 10:82034828-82034828
GRCh38: 10:80275072-80275072
16 MAT1A NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp) SNV Likely pathogenic 426944 rs376757912 GRCh37: 10:82039949-82039949
GRCh38: 10:80280193-80280193
17 MAT1A NM_000429.3(MAT1A):c.1070C>T (p.Pro357Leu) SNV Likely pathogenic 1204 rs118204003 GRCh37: 10:82034291-82034291
GRCh38: 10:80274535-80274535
18 MAT1A NM_000429.3(MAT1A):c.981G>A (p.Pro327=) SNV Conflicting interpretations of pathogenicity 459971 rs149163315 GRCh37: 10:82034380-82034380
GRCh38: 10:80274624-80274624
19 MAT1A NM_000429.3(MAT1A):c.712G>A (p.Glu238Lys) SNV Conflicting interpretations of pathogenicity 431707 rs116528173 GRCh37: 10:82036188-82036188
GRCh38: 10:80276432-80276432
20 MAT1A NM_000429.3(MAT1A):c.964A>T (p.Ile322Phe) SNV Uncertain significance 372407 rs1057517759 GRCh37: 10:82034397-82034397
GRCh38: 10:80274641-80274641
21 MAT1A NM_000429.3(MAT1A):c.290A>C (p.Lys97Thr) SNV Uncertain significance 569132 rs1564647783 GRCh37: 10:82043674-82043674
GRCh38: 10:80283918-80283918
22 MAT1A NM_000429.3(MAT1A):c.319C>G (p.Leu107Val) SNV Uncertain significance 418289 rs1064793166 GRCh37: 10:82040522-82040522
GRCh38: 10:80280766-80280766
23 MAT1A NM_000429.3(MAT1A):c.983T>C (p.Leu328Pro) SNV Uncertain significance 572062 rs1444823004 GRCh37: 10:82034378-82034378
GRCh38: 10:80274622-80274622
24 MAT1A NM_000429.3(MAT1A):c.656G>T (p.Arg219Leu) SNV Uncertain significance 574090 rs200894913 GRCh37: 10:82036244-82036244
GRCh38: 10:80276488-80276488
25 MAT1A NM_000429.3(MAT1A):c.745C>T (p.Arg249Trp) SNV Uncertain significance 575881 rs779094715 GRCh37: 10:82036155-82036155
GRCh38: 10:80276399-80276399
26 MAT1A NM_000429.3(MAT1A):c.277G>T (p.Asp93Tyr) SNV Uncertain significance 576970 rs762357538 GRCh37: 10:82043687-82043687
GRCh38: 10:80283931-80283931
27 MAT1A NM_000429.3(MAT1A):c.773A>T (p.Asp258Val) SNV Uncertain significance 578314 rs1241692940 GRCh37: 10:82034951-82034951
GRCh38: 10:80275195-80275195
28 MAT1A NM_000429.3(MAT1A):c.646G>C (p.Glu216Gln) SNV Uncertain significance 580628 rs1564646038 GRCh37: 10:82036254-82036254
GRCh38: 10:80276498-80276498
29 MAT1A NM_000429.3(MAT1A):c.452C>T (p.Pro151Leu) SNV Uncertain significance 845739 GRCh37: 10:82040026-82040026
GRCh38: 10:80280270-80280270
30 MAT1A NM_000429.3(MAT1A):c.875G>A (p.Arg292His) SNV Uncertain significance 851162 GRCh37: 10:82034849-82034849
GRCh38: 10:80275093-80275093
31 MAT1A NM_000429.3(MAT1A):c.359G>A (p.Cys120Tyr) SNV Uncertain significance 853951 GRCh37: 10:82040482-82040482
GRCh38: 10:80280726-80280726
32 MAT1A NM_000429.3(MAT1A):c.772G>T (p.Asp258Tyr) SNV Uncertain significance 647990 rs1554840677 GRCh37: 10:82034952-82034952
GRCh38: 10:80275196-80275196
33 MAT1A NM_000429.3(MAT1A):c.757G>A (p.Gly253Arg) SNV Uncertain significance 658943 rs1589480590 GRCh37: 10:82036143-82036143
GRCh38: 10:80276387-80276387
34 MAT1A NM_000429.3(MAT1A):c.740G>A (p.Ser247Asn) SNV Uncertain significance 430021 rs1131691739 GRCh37: 10:82036160-82036160
GRCh38: 10:80276404-80276404
35 MAT1A NM_000429.3(MAT1A):c.822G>T (p.Trp274Cys) SNV Uncertain significance 661199 rs1366915768 GRCh37: 10:82034902-82034902
GRCh38: 10:80275146-80275146
36 MAT1A NM_000429.3(MAT1A):c.*1691T>C SNV Uncertain significance 877593 GRCh37: 10:82031846-82031846
GRCh38: 10:80272090-80272090
37 MAT1A NM_000429.3(MAT1A):c.*1673C>T SNV Uncertain significance 877594 GRCh37: 10:82031864-82031864
GRCh38: 10:80272108-80272108
38 MAT1A NM_000429.3(MAT1A):c.*1661G>C SNV Uncertain significance 877595 GRCh37: 10:82031876-82031876
GRCh38: 10:80272120-80272120
39 MAT1A NM_000429.3(MAT1A):c.*610G>C SNV Uncertain significance 880410 GRCh37: 10:82032927-82032927
GRCh38: 10:80273171-80273171
40 MAT1A NM_000429.3(MAT1A):c.*604T>C SNV Uncertain significance 880411 GRCh37: 10:82032933-82032933
GRCh38: 10:80273177-80273177
41 MAT1A NM_000429.3(MAT1A):c.631G>A (p.Glu211Lys) SNV Uncertain significance 940504 GRCh37: 10:82036269-82036269
GRCh38: 10:80276513-80276513
42 MAT1A NM_000429.3(MAT1A):c.617C>T (p.Ser206Phe) SNV Uncertain significance 944479 GRCh37: 10:82036283-82036283
GRCh38: 10:80276527-80276527
43 MAT1A NM_000429.3(MAT1A):c.*553T>C SNV Uncertain significance 877648 GRCh37: 10:82032984-82032984
GRCh38: 10:80273228-80273228
44 MAT1A NM_000429.3(MAT1A):c.*545A>G SNV Uncertain significance 877649 GRCh37: 10:82032992-82032992
GRCh38: 10:80273236-80273236
45 MAT1A NM_000429.3(MAT1A):c.*542C>T SNV Uncertain significance 877650 GRCh37: 10:82032995-82032995
GRCh38: 10:80273239-80273239
46 MAT1A NM_000429.3(MAT1A):c.*428G>T SNV Uncertain significance 877651 GRCh37: 10:82033109-82033109
GRCh38: 10:80273353-80273353
47 MAT1A NM_000429.3(MAT1A):c.*1207T>C SNV Uncertain significance 878610 GRCh37: 10:82032330-82032330
GRCh38: 10:80272574-80272574
48 MAT1A NM_000429.3(MAT1A):c.*1192C>G SNV Uncertain significance 878611 GRCh37: 10:82032345-82032345
GRCh38: 10:80272589-80272589
49 MAT1A NM_000429.3(MAT1A):c.*1100C>G SNV Uncertain significance 878612 GRCh37: 10:82032437-82032437
GRCh38: 10:80272681-80272681
50 MAT1A NM_000429.3(MAT1A):c.204T>C (p.Cys68=) SNV Uncertain significance 878723 GRCh37: 10:82043760-82043760
GRCh38: 10:80284004-80284004

UniProtKB/Swiss-Prot genetic disease variations for Methionine Adenosyltransferase I/iii Deficiency:

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 MAT1A p.Ala55Asp VAR_006935 rs118204002
2 MAT1A p.Arg199Cys VAR_006936 rs773267230
3 MAT1A p.Arg264His VAR_006937 rs72558181
4 MAT1A p.Leu305Pro VAR_006938 rs118204004
5 MAT1A p.Ile322Met VAR_006939 rs118204001
6 MAT1A p.Arg356Gln VAR_006940 rs138742870
7 MAT1A p.Pro357Leu VAR_006941 rs118204003
8 MAT1A p.Gly378Ser VAR_006942 rs117002806
9 MAT1A p.Ser38Asn VAR_031242
10 MAT1A p.Arg264Cys VAR_031243 rs118204005
11 MAT1A p.Gly336Arg VAR_031244 rs118204006
12 MAT1A p.Glu344Ala VAR_031245

Expression for Methionine Adenosyltransferase I/iii Deficiency

Search GEO for disease gene expression data for Methionine Adenosyltransferase I/iii Deficiency.

Pathways for Methionine Adenosyltransferase I/iii Deficiency

Pathways related to Methionine Adenosyltransferase I/iii Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 MAT1A CTH CBS
2 11.92 CTH CBS
3
Show member pathways
11.77 MAT1A CTH CBS
4
Show member pathways
11.66 MAT1A CTH CBS
5 11.36 CTH CBS
6
Show member pathways
11.28 MAT1A CTH CBS
7
Show member pathways
11.08 CTH CBS
8
Show member pathways
10.9 MAT1A CTH CBS
9
Show member pathways
10.72 MAT1A CBS

GO Terms for Methionine Adenosyltransferase I/iii Deficiency

Biological processes related to Methionine Adenosyltransferase I/iii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homotetramerization GO:0051289 9.37 MAT1A CTH
2 cellular amino acid biosynthetic process GO:0008652 9.32 CTH CBS
3 transsulfuration GO:0019346 9.26 CTH CBS
4 hydrogen sulfide biosynthetic process GO:0070814 9.16 CTH CBS
5 cysteine biosynthetic process GO:0019344 8.96 CTH CBS
6 cysteine biosynthetic process via cystathionine GO:0019343 8.62 CTH CBS

Molecular functions related to Methionine Adenosyltransferase I/iii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.33 MAT1A CTH CBS
2 catalytic activity GO:0003824 9.26 CTH CBS
3 lyase activity GO:0016829 8.96 CTH CBS
4 pyridoxal phosphate binding GO:0030170 8.62 CTH CBS

Sources for Methionine Adenosyltransferase I/iii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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