eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| thiamine-responsive megaloblastic anemia syndrome | ||||
| Disease ID | 1604 |
|---|---|
| Disease | thiamine-responsive megaloblastic anemia syndrome |
| Synonym | abboud syndrome megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) roger syndrome rogers syndrome thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type) thiamine responsive megaloblastic anemia syndrome thiamine responsive myelodysplasia thiamine-responsive anemia syndrome thiamine-responsive myelodysplasia thmd1 trma |
| Orphanet | |
| OMIM | |
| UMLS | C0342287 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) SLC19A2 | 1q24.2 |
| Disease ID | 1604 |
|---|---|
| Disease | thiamine-responsive megaloblastic anemia syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:20) HP:0001635 | Congestive heart failure HP:0000556 | Retinal dystrophy HP:0001297 | Stroke HP:0003401 | Paresthesia HP:0001873 | Thrombocytopenia HP:0001254 | Lethargy HP:0000572 | Visual loss HP:0001629 | Ventricular septal defect HP:0000819 | Diabetes mellitus HP:0001695 | Cardiac arrest HP:0001889 | Megaloblastic anemia HP:0002014 | Diarrhea HP:0004322 | Short stature HP:0002315 | Headache HP:0006671 | Paroxysmal atrial tachycardia HP:0000648 | Optic atrophy HP:0002039 | Anorexia HP:0000407 | Sensorineural hearing impairment HP:0000980 | Pallor HP:0001631 | Atrial septal defect |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1604 |
|---|---|
| Disease | thiamine-responsive megaloblastic anemia syndrome |
| 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:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908540 | NA | 10560 | SLC19A2 | umls:C0342287 | CLINVAR | NA | 0.562171535 | NA | SLC19A2 | 1 | 169485615 | G | A |
| rs28937595 | 10391221 | 10560 | SLC19A2 | umls:C0342287 | UNIPROT | Mutations in a new gene, SLC19A2, encoding a putative transmembrane protein homologous to the reduced folate carrier proteins, were found in all affected individuals in six TRMA families, suggesting that a defective thiamine transporter protein (THTR-1) may underlie the TRMA syndrome. | 0.562171535 | 1999 | SLC19A2 | 1 | 169477447 | C | T |
| rs28937595 | NA | 10560 | SLC19A2 | umls:C0342287 | CLINVAR | NA | 0.562171535 | NA | SLC19A2 | 1 | 169477447 | C | T |
| rs74315373 | NA | 10560 | SLC19A2 | umls:C0342287 | CLINVAR | NA | 0.562171535 | NA | SLC19A2 | 1 | 169477478 | G | A |
| rs74315374 | NA | 10560 | SLC19A2 | umls:C0342287 | CLINVAR | NA | 0.562171535 | NA | SLC19A2 | 1 | 169477212 | C | T,G |
| rs74315375 | NA | 10560 | SLC19A2 | umls:C0342287 | CLINVAR | NA | 0.562171535 | NA | SLC19A2 | 1 | 169468793 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0001889 | Megaloblastic anemia | MP:0001577 | anemia | less than normal levels of red blood cells and/or hemoglobin within red blood cells, or volume of packed red blood cells in the bloodstream, resulting in insufficient oxygenation of tissues and organs |
| HP:0000572 | Visual loss | MP:0011352 | proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
Mapped by homologous gene(Total Items:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000980 | Pallor | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0000407 | Sensorineural hearing impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000572 | Visual loss | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| HP:0000556 | Retinal dystrophy | 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:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001695 | Cardiac arrest | MP:0013578 | abnormal stomach glandular region morphology | any structural anomaly of the distinct glandular stomach area which in rodents is demarcated from the non-glandular forestomach by the limiting ridge (margo plicatus); the glandular stomach is connected to the small intestine (duodenum); the wall of the g |
| HP:0001889 | Megaloblastic anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001629 | Ventricular septal defect | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001297 | Stroke | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1604 |
|---|---|
| Disease | thiamine-responsive megaloblastic anemia syndrome |
| Case | (Waiting for update.) |