ORPHA:562538
Autosomal recessive extra-oral halitosis
Synonyms: MTO-deficiency · Methanethiol oxidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath, due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide, and dimethylsulfone in blood, cerebrospinal fluid (CSF), and urine.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive extra-oral halitosis | MTO-deficiency · Methanethiol oxidase deficiency |
| fr | Halitose extra-orale autosomique récessive | Déficit en MTO · Déficit en méthanethiol oxydase |
| de | Extraorale Halitosis, autosomal-rezessive | MTO-Mangel · Methanethiol-Oxidase-Defizienz |
| es | Halitosis extraoral autosómica recesiva | Deficiencia de MTO · Deficiencia de metanetiol oxidasa |
| it | Alitosi extra-orale autosomica recessiva | Deficit di MTO · Deficit di metanetiolo ossidasi |
| nl | Autosomaal recessieve extraorale halitose | MTO-deficiëntie · Methaanthiol-oxidasedeficiëntie |
| pt | Halitose extra-oral autossómica recessiva | |
| pl | Autosomalny recesywny pozaustny cuchnący oddech | Niedobór oksydazy metanotiolu |
| cs | Autozomálně recesivní extraorální halitóza | = en |
| uk | Аутосомно-рецесивний екстраоральний галітоз | Дефіцит метанетіолоксидази · Дефіцит MTO |
| zh | 常染色体隐性遗传性口外源性口臭 | 甲硫醇氧化酶缺乏症 |
| tr | Otozomal resesif ekstra-oral ağız kokusu | MTO-eksikliği · Metantiyol oksidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618148 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.B | NTBT | attributed | validated |
| MONDO | 0034186 | E | validated | |
| UMLS | C4748387 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79173Disorder of methionine cycle and sulfur amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SELENBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10719 | ENSG00000143416 | 604188 | 1q21.3 | selenium binding protein 1 | 29255262[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/562538
- This record as JSON: /data/d/562538.json