eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| trimethylaminuria | ||||
| Disease ID | 1541 |
|---|---|
| Disease | trimethylaminuria |
| Definition | Increased concentration of trimethylamine in the urine. [HPO:probinson] |
| Synonym | fish malodor syndrome fish odor syndrome fish odour syndrome fish-odor syndrome high urine trimethylamine levels stale fish syndrome tmau tmauria trimethylaminuria (disorder) |
| OMIM | |
| ICD10 | |
| UMLS | C0342739 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1541 |
|---|---|
| Disease | trimethylaminuria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0006532 | Pneumonia, recurrent episodes HP:0001744 | Splenomegaly HP:0000822 | Hypertension HP:0000716 | Depression HP:0003614 | High urine trimethylamine levels HP:0001875 | Neutropenia HP:0001649 | Tachycardia HP:0001903 | Anemia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1541 |
|---|---|
| Disease | trimethylaminuria |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:15) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1736557 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171110939 | G | A |
| rs2266780 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171114102 | A | G |
| rs2266782 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171107825 | G | A |
| rs61753344 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171114092 | G | T |
| rs72549320 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171092752 | G | A |
| rs72549321 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3;MIR1295A | 1 | 171103806 | G | A |
| rs72549322 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171103834 | A | G |
| rs72549323 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171103850 | G | C,T |
| rs72549326 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171107811 | C | T |
| rs72549330 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171114119 | G | A,T |
| rs72549331 | 10479479 | 2328 | FMO3 | umls:C0342739 | UNIPROT | Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort. | 0.367057489 | 1999 | FMO3 | 1 | 171114339 | G | A,T |
| rs72549331 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171114339 | G | A,T |
| rs72549332 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171117145 | G | A |
| rs72549334 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171117317 | C | T |
| rs769983049 | NA | 2328 | FMO3 | umls:C0342739 | CLINVAR | NA | 0.367057489 | NA | FMO3 | 1 | 171108154 | T | C,G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006532 | Recurrent pneumonia | MP:0001862 | interstitial pneumonia | any of a group of inflammatory and fibrotic disorders of the lower respiratory tract, primarily affecting the supporting framework of the lung, including the alveolar wall, but may also involve the small airways and blood vessels of the lung parenchyma |
Mapped by homologous gene(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001649 | Tachycardia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001875 | Neutropenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006532 | Recurrent pneumonia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1541 |
|---|---|
| Disease | trimethylaminuria |
| Case | (Waiting for update.) |