MCID: HYP269
MIFTS: 24

Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency

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

Aliases & Classifications for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

MalaCards integrated aliases for Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency:

Name: Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency 54 13
Methionine Adenosyltransferase Deficiency 24 56 71
Methionine Adenosyltransferase Deficiency, Autosomal Recessive 54 29
Isolated Persistent Hypermethioninemia 24 71
Mat I/iii Deficiency 56 71
Mat Deficiency 56 71
Brain Demyelination Due to Methionine Adenosyltransferase Deficiency 56
Hepatic Methionine Adenosyltransferase Deficiency 69
Deficiency of Acetyl-Coa Acetyltransferase 69
Matd 71

Characteristics:

Orphanet epidemiological data:

56
brain demyelination due to methionine adenosyltransferase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

54
Inheritance:
autosomal dominant
autosomal recessive

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


HPO:

32
hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 250850
Orphanet 56 ORPHA168598
UMLS via Orphanet 70 C0268621
ICD10 via Orphanet 34 E72.1
MeSH 42 D000592

Summaries for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency, also known as methionine adenosyltransferase deficiency, is related to methionine adenosyltransferase deficiency and hypermethioninemia, and has symptoms including dystonia, hyperreflexia and intellectual disability. An important gene associated with Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency is MAT1A (Methionine Adenosyltransferase 1A). Affiliated tissues include brain.

OMIM : 54
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)

Related Diseases for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

Diseases related to Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 methionine adenosyltransferase deficiency 12.5
2 hypermethioninemia 11.7
3 alpha-methylacetoacetic aciduria 10.8
4 hepatitis 10.1
5 homocystinuria 9.9

Graphical network of the top 20 diseases related to Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency:



Diseases related to Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency

Symptoms & Phenotypes for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
dystonia
hyperreflexia
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


Clinical features from OMIM:

250850

Human phenotypes related to Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 dystonia 32 HP:0001332
2 hyperreflexia 32 HP:0001347
3 intellectual disability 32 occasional (7.5%) HP:0001249
4 hypermethioninemia 32 HP:0003235
5 peripheral demyelination 32 HP:0011096
6 cns demyelination 32 HP:0007305

UMLS symptoms related to Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency:


vomiting

Drugs & Therapeutics for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

Search Clinical Trials , NIH Clinical Center for Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency

Genetic Tests for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

Genetic tests related to Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency:

id Genetic test Affiliating Genes
1 Methionine Adenosyltransferase Deficiency, Autosomal Recessive 29
2 Isolated Persistent Hypermethioninemia 24 MAT1A

Anatomical Context for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

MalaCards organs/tissues related to Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency:

39
Brain

Publications for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

Variations for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

UniProtKB/Swiss-Prot genetic disease variations for Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency:

71 (show all 12)
id 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
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

ClinVar genetic disease variations for Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency:

6
id 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.164C> A (p.Ala55Asp) single nucleotide variant Pathogenic rs118204002 GRCh37 Chromosome 10, 82045273: 82045273
3 MAT1A NM_000429.2(MAT1A): c.1070C> T (p.Pro357Leu) single nucleotide variant Pathogenic rs118204003 GRCh37 Chromosome 10, 82034291: 82034291
4 MAT1A NM_000429.2(MAT1A): c.914T> C (p.Leu305Pro) single nucleotide variant Pathogenic rs118204004 GRCh37 Chromosome 10, 82034810: 82034810
5 MAT1A MAT1A, 1-BP INS, 827G insertion Pathogenic
6 MAT1A MAT1A, 2-BP DEL, 1043TG deletion Pathogenic
7 MAT1A NM_000429.2(MAT1A): c.791G> A (p.Arg264His) single nucleotide variant Pathogenic rs72558181 GRCh37 Chromosome 10, 82034933: 82034933
8 MAT1A MAT1A, 2-BP INS, 539TG insertion Pathogenic
9 MAT1A NM_000429.2(MAT1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs118204005 GRCh37 Chromosome 10, 82034934: 82034934
10 MAT1A NM_000429.2(MAT1A): c.1006G> A (p.Gly336Arg) single nucleotide variant Pathogenic rs118204006 GRCh37 Chromosome 10, 82034355: 82034355

Expression for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

Search GEO for disease gene expression data for Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency.

Pathways for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

GO Terms for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

Sources for Hypermethioninemia, Persistent, Autosomal Dominant, Due to...

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66 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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