EHMTO
MCID: EXT064
MIFTS: 29

Extraoral Halitosis Due to Methanethiol Oxidase Deficiency (EHMTO)

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases, Respiratory 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 72 6
Extraoral Halitosis Due to Mto Deficiency 57 72 36
Methanethiol Oxidase Deficiency 57 58 72
Extraoral Halitosis with Dimethylsulfoxiduria 57 72
Mto Deficiency 57 72
Halitosis 44 32
Ehmto 57 72
Autosomal Recessive Extra-Oral Halitosis 58
Mto-Deficiency 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
extraoral halitosis due to methanethiol oxidase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 618148
KEGG 36 H02485
MeSH 44 D006209
ICD10 32 R19.6
Orphanet 58 ORPHA562538
SNOMED-CT via HPO 68 258211005 79879001

Summaries for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

UniProtKB/Swiss-Prot : 72 Extraoral halitosis due to methanethiol oxidase deficiency: An autosomal recessive malodor condition characterized by extraoral blood-borne halitosis resulting from the accumulation of sulfur- containing metabolites. In extraoral blood-borne halitosis, malodorant compounds are carried to the lungs, where they enter the breath. Affected individuals have a cabbage-like breath odor, high levels of methanethiol and dimethylsulfide in oral and nasal breath, and elevated urinary excretion of dimethylsulfoxide in the absence of intake of dimethylsulfide-containing food or use of sulfur-containing medication, lower-gastrointestinal problems, and known metabolic defects, such as methionine adenosyltransferase deficiency and tyrosinemia.

MalaCards based summary : Extraoral Halitosis Due to Methanethiol Oxidase Deficiency, also known as extraoral halitosis due to mto deficiency, is related to hairy tongue and periodontitis. An important gene associated with Extraoral Halitosis Due to Methanethiol Oxidase Deficiency is SELENBP1 (Selenium Binding Protein 1), and among its related pathways/superpathways is Sulfur metabolism. The drugs Chlorine dioxide and Disinfectants have been mentioned in the context of this disorder. Affiliated tissues include tongue and ovary, and related phenotype is halitosis.

KEGG : 36 Extraoral halitosis due to MTO deficiency (EHMTO) is a novel inborn error of metabolism. Mutations in SELENBP1 in patients with cabbage-like breath odor have been identified. The malodor was attributable to high levels of methanethiol and dimethylsulfide in their breath. SELENBP1 has been identified as the human methanethiol oxidase (MTO) catalyzing the conversion of methanethiol into formaldehyde, H2S, and hydrogen peroxide.

More information from OMIM: 618148

Related Diseases for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Diseases related to Extraoral Halitosis Due to Methanethiol Oxidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 hairy tongue 11.0
2 periodontitis 10.6
3 gingivitis 10.5
4 dental caries 10.4
5 tonsillitis 10.4
6 helicobacter pylori infection 10.3
7 gastroesophageal reflux 10.2
8 periodontitis, chronic 10.2
9 gastrointestinal system disease 10.2
10 anxiety 10.1
11 trimethylaminuria 10.0
12 esophagitis 10.0
13 pericoronitis 10.0
14 gastritis 10.0
15 rhinitis 10.0
16 bronchiectasis 10.0
17 adenoid hypertrophy 9.9
18 cystinosis 9.9
19 social phobia 9.9
20 neurotic disorder 9.9
21 overgrowth syndrome 9.9
22 epithelial recurrent erosion dystrophy 9.8
23 multiple sclerosis 9.8
24 hair whorl 9.8
25 hernia, hiatus 9.8
26 down syndrome 9.8
27 pancreatic cancer 9.8
28 allergic rhinitis 9.8
29 mycobacterium tuberculosis 1 9.8
30 mulchandani-bhoj-conlin syndrome 9.8
31 gastrointestinal ulceration, recurrent, with dysfunctional platelets 9.8
32 adenoiditis 9.8
33 autosomal recessive disease 9.8
34 fibroma 9.8
35 covid-19 9.8
36 bacterial infectious disease 9.8
37 common cold 9.8
38 fissured tongue 9.8
39 denture stomatitis 9.8
40 pyloric stenosis 9.8
41 glossitis 9.8
42 candidiasis 9.8
43 alcohol use disorder 9.8
44 duodenal ulcer 9.8
45 viral hepatitis 9.8
46 hepatitis b 9.8
47 suppurative periapical periodontitis 9.8
48 adenocarcinoma 9.8
49 substance abuse 9.8
50 mood disorder 9.8

Graphical network of the top 20 diseases related to Extraoral Halitosis Due to Methanethiol Oxidase Deficiency:



Diseases related to Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Symptoms & Phenotypes for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Human phenotypes related to Extraoral Halitosis Due to Methanethiol Oxidase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 halitosis 31 HP:0100812

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
halitosis, extraoral

Laboratory Abnormalities:
elevated methanethiol and dimethylsulfide (dms) in breath
elevated dms, dmso, and dmso(2) in blood, csf, and urine

Clinical features from OMIM®:

618148 (Updated 05-Apr-2021)

Drugs & Therapeutics for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Drugs for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chlorine dioxide Investigational Phase 4 10049-04-4 24870
2 Disinfectants Phase 4
3
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6 32051
4
Chlorhexidine Approved, Vet_approved Phase 2 55-56-1 2713 9552079
5
sodium fluoride Approved Phase 1, Phase 2 7681-49-4
6
Inulin Approved, Investigational, Nutraceutical Phase 2 9005-80-5 24763
7 Trace Elements Phase 1, Phase 2
8 Nutrients Phase 1, Phase 2
9 Propolis Phase 1, Phase 2
10 Micronutrients Phase 1, Phase 2
11 Bee Products Phase 1, Phase 2
12 Aloe Phase 1, Phase 2
13 Pharmaceutical Solutions Phase 2
14 Chlorhexidine gluconate Phase 2
15 Tea Phase 2
16 Listerine Phase 1, Phase 2
17 Anti-Infective Agents Phase 1
18 Oregano Approved
19
Peppermint Approved
20
Ethanol Approved 64-17-5 702
21
Methyl salicylate Approved, Vet_approved 119-36-8 4133
22
Menthol Approved 2216-51-5 16666
23
Thymol Approved 89-83-8 6989
24
Methylene blue Approved, Investigational 61-73-4
25
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
26
Olaflur Experimental 6818-37-7
27 Antibiotics, Antitubercular
28 Dermatologic Agents
29 Neurotransmitter Agents
30 Salicylates
31
Hydrogen sulfide 7783-06-4 402
32 Protective Agents
33 Fluorophosphate
34 Antioxidants
35 Photosensitizing Agents
36 Acidophilus
37 Anti-Bacterial Agents
38 Fluorides
39
Eucalyptol Experimental, Nutraceutical 470-82-6

Interventional clinical trials:

(show all 49)
# Name Status NCT ID Phase Drugs
1 Effect of Probiotic Lactobacillus Reuteri-containing Lozenges (Prodentis) on Halitosis in Patients With Chronic Periodontitis Unknown status NCT02789436 Phase 4 L. reuteri Prodentis® lozenges
2 Effects of Various Oral Hygiene Procedures on the Reduction of Oral Malodor in Periodontally Healthy Patients Completed NCT02113137 Phase 4 group 1: drug: chlorine dioxide
3 Three Different Oral Hygiene Regimes on Three Volatile Sulfur Compounds Completed NCT02689297 Phase 4
4 Effect of Photodymamic Therapy With Urucum and LED in the Reduction of Halitosis: a Clinical and Microbiological Trial Unknown status NCT03346460 Phase 2
5 Breezy Candy Halitosis Study Unknown status NCT00875927 Phase 1, Phase 2
6 The Effect of Mouthwash Containing Green Tea With Aloe Vera and Chlorhexidine Mouthwash on Oral Malodour Among a Group of Egyptian Children: Randomized Clinical Trial Unknown status NCT03115892 Phase 1, Phase 2 Green Tea With Aloe Vera mouthwash;Chlorhexidine mouthwash
7 Phase 2 Clinical Study of a Day Long Effect of SmellX Palatal Patch Containing A Herbal Formula on Malodor Completed NCT01388023 Phase 2
8 Inulin and Streptococcus Salivarius Reduce Halitosis Associated With Tongue Coating: A Randomized Clinical Trial Completed NCT02794766 Phase 2 Inulin+SS;S salivarius;Placebo
9 Effect of Mouthwash Containing Camellia Sinensis Extracts on Oral Malodor, Plaque and Papillary Bleeding Indices in Gingivitis Patients. Completed NCT00932347 Phase 2 Camellia sinensis mouthwash;Placebo mouthwash
10 Effect of Miswak and Miswak Extract on Oral Malodor Completed NCT02628938 Phase 2
11 Evaluation of the Efficacy of a Commercially Available Regimen Versus Brushing Alone on Established Plaque and Gingivitis on Adolescents: Study Protocol for a Randomized, Controlled, Blind Clinical Trial Not yet recruiting NCT04216069 Phase 1, Phase 2
12 Invivo Study of the Efficacy of an Innovative Herbal Formula and Delivery System on Oral Malodor Completed NCT00250289 Phase 1
13 The Clinical Effects of a Mouthwash Containing Chlorine Dioxide on Oral Malodor and Salivary Periodontal and Malodorous Bacteria Using for 7days Completed NCT00748943 Phase 1
14 A Randomized, Double Blind, Crossover, Placebo-Controlled Clinical Trial to Assess the Effects of a Mouthwash Containing Chlorine Dioxide on Oral Malodor Completed NCT00655772 Phase 1
15 Evaluation of Periodontal Treatment in Patients With Bronchiectasis: a Randomized, Single-center,One Year, Parallel Group, Non-inferiority Clinical Study Unknown status NCT02514226
16 New "in Vitro" Diagnostic Test for Oral Malodour: First Prototype Evaluation Unknown status NCT01226251
17 Photodynamic Therapy as Novel Treatment for Halitosis in Adolescents: Crontolled Clinical Trial Unknown status NCT02007993
18 Action of Antimicrobial Photodynamic Therapy With Red Leds in Microorganisms Related to Halitose: Clinical Controlled and Randomized Trial Unknown status NCT03656419
19 The Efficacy of Different Methods of Teeth Cleaning on the Levels of Volatile Sulfur Compounds in Patients With Orthodontic Fixed Appliances Unknown status NCT03901625
20 Masking and Therapeutic Effect of Different Mouth Rinses in Patients With Oral Malodor. Unknown status NCT01747226
21 Halitosis and Mouth Breathing in Children Completed NCT01269957
22 Halitosis Devised Questionnaire Evaluating a New Treatment Completed NCT01046812 Caphosol
23 Evaluation of Gastrointestinal and Nutritional Diagnostic Tests as Potential Screening Tools for Metabolic Body Odor and Halitosis Completed NCT02692495
24 Effects of a Low Calorie Mediterranean Ketogenic Diet in Women With Polycystic Ovary Syndrome Completed NCT04163120
25 The Efficacy of Oregano Essential Oil in Reducing Oral Halitosis :A Randomized Controlled Trial Completed NCT04779502
26 Comparative Study of the Effects of Green Tea and Peppermint Herbal Mouthwash on Halitosis. Completed NCT03053882
27 Effect Off Full Mouth Disinfection And Scaling Root Planing Per Quadrant In Halitosis in Patients With Advanced Chronic Periodontitis: Randomized Controlled Clinical Trial Completed NCT02368678
28 Efficacy of Glycine Powder Air-Polishing Combined With Scaling and Root Planing in the Treatment of Periodontitis and Halitosis: A Randomized Clinical Study Completed NCT03031756
29 Impact of Bracket Design and Oral Hygiene Maintenance on Halitosis in the Orthodontic Patient Completed NCT01948349
30 Clinical Evaluation of Some Local Antimicrobial Agents' Adjunctive Effects On Periodontal Parameters and Halitosis With Subgingival Ultrasonic Instrumentation in Periodontitis Patients: A Randomized Clinical Study Completed NCT03468595
31 Bacterial Accumulation and Malodor Production in Various Types of Dental Implants Completed NCT00254839
32 Oral Malodour and Periodontal Disease-related Parameters. Clinical and Real-time PCR Findings Completed NCT01234948
33 Detection of Hydrogen Sulfide Production by Oral Microflora Samples Completed NCT00396539
34 A New Portable Monitor for Measuring Odorous Compounds in Oral, Exhaled and Nasal Air Completed NCT01139073
35 Bad Breath Response to Tongue Scraper and Rinses, a Double-blind, Randomized, Parallel Group Clinical Trial. Completed NCT00867035 Chlorine dioxide and scraper;Chlorhexidine gluconate and scraper
36 Laser Tongue Debridement for Oral Malodor Completed NCT04120948
37 "Effect of Single Rinsing With Three Different Types of Mouthwash on VSC Levels in Morning Breath; Randomized Clinical Trial, Double-blind Cross-sectional Study" Completed NCT04279106
38 Site-Specific Mouth Rinsing to Improve Oral Odor by Altering Bacterial Counts: Blind Crossover Clinical Study Completed NCT02221193 Early Phase 1
39 Evaluation of the Effect of an Oral Probiotic on Oral Bacteria and Malodor Completed NCT04473404
40 A Randomized Trial Evaluating the Efficacy of a Gum Health Formulation on Gingival Inflammation, Oral Malodor and Tooth Whitening Completed NCT03196648
41 Effectiveness of Different Candies Against Bad Breath Recruiting NCT04589481
42 Oral Evaluation by the Nurses From the Office of Access to Healthcare ("PASS") for Vulnerable People as a Vector for the Detection of Oral Diseases to Improve Access to the Appropriate Healthcare Branch - PASSDENT Study Recruiting NCT03493750
43 Evaluation of Halitosis in Adult Patients After Treatment With Photodynamic Therapy Associated With Periodontal Treatment: Protocol for a Randomized, Controlled Single Blinded Trial With 3-month Follow up Recruiting NCT03996915
44 Questionnaire Regarding the Effect of Wearing Face Masks on Oral Health Enrolling by invitation NCT04632004
45 Evaluation of the Treatment of Halitosis With Photodynamic Therapy in Older Patients With Complete Denture: Protocol for a Randomized, Controlled Trial Not yet recruiting NCT03960983
46 Treatment of Halitosis With Photodynamic Therapy in Older Patients: Protocol for a Randomized, Controlled Trial Not yet recruiting NCT03591484
47 Evaluation of Halitosis After Treatment With Photodynamic Therapy Randomized and Controlled Study Not yet recruiting NCT03973684
48 Comparative Study Between Photodynamic Therapy Using Urucum + LED and Probiotics in Halitosis Reduction - Controlled Clinical Trial Not yet recruiting NCT03996044
49 Assessing the Effect of Periodontal Debridement, Tongue Cleaning and Mouth Rinsing for the Treatment of Oral Malodour Withdrawn NCT02665780

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

Cochrane evidence based reviews: halitosis

Genetic Tests for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Anatomical Context for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

MalaCards organs/tissues related to Extraoral Halitosis Due to Methanethiol Oxidase Deficiency:

40
Tongue, Ovary

Publications for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Articles related to Extraoral Halitosis Due to Methanethiol Oxidase Deficiency:

# Title Authors PMID Year
1
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis. 61 57 6
29255262 2018

Variations for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SELENBP1 NM_003944.4(SELENBP1):c.1039G>T (p.Gly347Ter) SNV Pathogenic 549495 rs1553204817 GRCh37: 1:151338044-151338044
GRCh38: 1:151365568-151365568
2 SELENBP1 NM_003944.4(SELENBP1):c.481+1G>A SNV Pathogenic 585260 rs1357490520 GRCh37: 1:151340674-151340674
GRCh38: 1:151368198-151368198
3 SELENBP1 NM_003944.4(SELENBP1):c.673G>T (p.Gly225Trp) SNV Pathogenic 549486 rs758495626 GRCh37: 1:151338921-151338921
GRCh38: 1:151366445-151366445
4 SELENBP1 NM_003944.4(SELENBP1):c.985C>T (p.His329Tyr) SNV Pathogenic 549497 rs1553204840 GRCh37: 1:151338098-151338098
GRCh38: 1:151365622-151365622

UniProtKB/Swiss-Prot genetic disease variations for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency:

72
# Symbol AA change Variation ID SNP ID
1 SELENBP1 p.Gly225Trp VAR_080207 rs758495626
2 SELENBP1 p.His329Tyr VAR_080208 rs155320484

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

Pathways related to Extraoral Halitosis Due to Methanethiol Oxidase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Sulfur metabolism hsa00920

GO Terms for Extraoral Halitosis Due to Methanethiol Oxidase Deficiency

Sources for Extraoral Halitosis Due to Methanethiol Oxidase 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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