Severe primary trimethylaminuria
Synonyms: TMAU
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe primary trimethylaminuria | TMAU |
| fr | Triméthylaminurie sévère primaire | |
| de | Trimethylaminurie, primäre schwere | |
| es | Trimetilaminuria primaria grave | |
| it | Trimetilaminuria primaria grave | |
| nl | Ernstige primaire trimethylaminurie | |
| pt | Trimetilaminuria grave primária | |
| pl | Ciężka pierwotna trimetylaminuria | = en |
| cs | Těžká primární trimetylaminurie | = en |
| uk | Тяжка первинна триметиламінурія | = en |
| zh | 严重的原发性三甲基尿症 | = en |
| tr | Ağır primer trimetilaminüri | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602079 | NTBT | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C50.G | NTBT | attributed | validated |
| MONDO | 0018767 | E | validated | |
| UMLS | C5575503 | E | validated | |
| GARD | 6447 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79062Disorder of amino acid and other organic acid metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FMO3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3771 | ENSG00000007933 | 136132 | 1q24.3 | flavin containing dimethylaniline monoxygenase 3 | 20301282[PMID]_19321370[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_25335494[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
10 annotations · validated 2021-05-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0410020 | Fish odor | |
| Very frequent (99-80%) | ||
| HP:0003614 | Trimethylaminuria | |
| Frequent (79-30%) | ||
| HP:0000712 | Emotional lability | |
| HP:0031469 | Low self esteem | |
| HP:0031467 | Negative affectivity | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0000716 | Depression | |
| HP:0008770 | Obsessive-compulsive trait | |
| HP:0011999 | Paranoia | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 20301282[PMID]_33473342[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/468726
- This record as JSON: /data/d/468726.json