EHMTO
MCID: EXT064
MIFTS: 7

Extraoral Halitosis Due to Methanethiol Oxidase Deficiency (EHMTO)

Categories: Genetic diseases

Aliases & Classifications for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

MalaCards integrated aliases for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency:

Name: Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 57 6
Extraoral Halitosis with Dimethylsulfoxiduria 57
Extraoral Halitosis Due to Mto Deficiency 57
Methanethiol Oxidase Deficiency 57
Mto Deficiency 57
Ehmto 57

Classifications:



External Ids:

OMIM 57 618148

Summaries for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

MalaCards based summary : Extraoral Halitosis Due to Methanethiol Oxidase Deficiency, is also known as extraoral halitosis with dimethylsulfoxiduria. An important gene associated with Extraoral Halitosis Due to Methanethiol Oxidase Deficiency is SELENBP1 (Selenium Binding Protein 1).

Description from OMIM: 618148

Related Diseases for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Symptoms & Phenotypes for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Clinical features from OMIM:

618148

Drugs & Therapeutics for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Search Clinical Trials , NIH Clinical Center for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Genetic Tests for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Anatomical Context for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Publications for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Variations for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

ClinVar genetic disease variations for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SELENBP1 NM_003944.3(SELENBP1): c.1039G> T (p.Gly347Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 151365568: 151365568
2 SELENBP1 NM_003944.3(SELENBP1): c.1039G> T (p.Gly347Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 151338044: 151338044
3 SELENBP1 NM_003944.3(SELENBP1): c.985C> T (p.His329Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 151365622: 151365622
4 SELENBP1 NM_003944.3(SELENBP1): c.985C> T (p.His329Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 151338098: 151338098
5 SELENBP1 NM_003944.3(SELENBP1): c.673G> T (p.Gly225Trp) single nucleotide variant Likely pathogenic rs758495626 GRCh38 Chromosome 1, 151366445: 151366445
6 SELENBP1 NM_003944.3(SELENBP1): c.673G> T (p.Gly225Trp) single nucleotide variant Likely pathogenic rs758495626 GRCh37 Chromosome 1, 151338921: 151338921
7 SELENBP1 NM_003944.3(SELENBP1): c.481+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 151340674: 151340674
8 SELENBP1 NM_003944.3(SELENBP1): c.481+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 1, 151368198: 151368198

Expression for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Search GEO for disease gene expression data for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency.

Pathways for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

GO Terms for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Sources for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

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