eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| myelopathy, htlv-1-associated | ||||
| Disease ID | 1658 |
|---|---|
| Disease | myelopathy, htlv-1-associated |
| Definition | A subacute paralytic myeloneuropathy occurring endemically in tropical areas such as the Caribbean, Colombia, India, and Africa, as well as in the southwestern region of Japan; associated with infection by HUMAN T-CELL LEUKEMIA VIRUS I. Clinical manifestations include a slowly progressive spastic weakness of the legs, increased reflexes, Babinski signs, incontinence, and loss of vibratory and position sensation. On pathologic examination inflammatory, demyelination, and necrotic lesions may be found in the spinal cord. (Adams et al., Principles of Neurology, 6th ed, p1239) |
| Synonym | familial spastic paraparesis, htlv 1 associated familial spastic paraparesis, htlv-1-associated ham ham - htlv 1-associated myelopathy htlv 1-associated myelopathy htlv i assoc myelopathies htlv i assoc myelopathy htlv i assoc myelopathy tropical spastic paraparesis htlv i associated myelopathies htlv i associated myelopathy htlv i associated myelopathy tropical spastic paraparesis htlv wi associated myelopathy htlv-1-associated myelopathies htlv-1-associated myelopathy htlv-1-associated myelopathy-tropical spastic paraparesis htlv-1-associated myelopathy-tropical spastic paraparesis (disorder) htlv-i-associated myelopathies htlv-i-associated myelopathy htlv-i-associated myelopathy-tropical spastic paraparesis human t lymphotropic virus type 1 assoc myelopathy human t lymphotropic virus type 1 associated myelopathy human t-cell lymphotropic virus (htlv) 1-associated myelopathy-tropical spastic paraparesis human t-cell lymphotropic virus (htlv) 1-associated myelopathy-tropical spastic paraparesis (disorder) human t-cell lymphotropic virus 1-associated myelopathy human t-cell lymphotropic virus 1-associated myelopathy-tropical spastic paraparesis human t-cell lymphotropic virus 1-associated myelopathy-tropical spastic paraparesis (disorder) human t-lymphotropic virus type 1 associated myelopathy jamaican (tropical) myeloneuropathy jamaican neuropathy jamaican syndrome myelopathies htlv i assoc myelopathies, htlv i associated myelopathies, htlv-1-associated myelopathies, htlv-i-associated myelopathy caused by human t-lymphotropic virus 1 myelopathy caused by human t-lymphotropic virus 1 (disorder) myelopathy human t lymphotropic virus type 1 assoc myelopathy, htlv 1 associated myelopathy, htlv-i-associated myelopathy, human t lymphotropic virus type 1 associated myelopathy, human t-lymphotropic virus type 1 associated parapareses, tropical spastic paraparesis, tropical spastic paraparesis, tropical spastic [disease/finding] paraplegia, tropical spastic paraplegias, tropical spastic spastic parapareses, tropical spastic paraparesis, tropical spastic paraplegia, tropical spastic paraplegias, tropical tropical spastic paralysis tropical spastic parapareses tropical spastic paraparesis tropical spastic paraparesis (tsp) tropical spastic paraplegia tropical spastic paraplegia (disorder) tropical spastic paraplegias tsp - tropical spastic paraparesis |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0030481 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0442874 | neuropathy | 1 C0021053 | immune disorder | 1 C0037928 | myelopathy | 1 C0021053 | immune disorders | 1 C0023492 | t cell leukemia | 1 C0031117 | peripheral neuropathy | 1 C0023493 | adult t cell leukemia | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:92) 4363 | ABCC1 | 1.374 | DISEASES 55811 | ADCY10 | 1.429 | DISEASES 79924 | ADM2 | 2.434 | DISEASES 177 | AGER | 1.136 | DISEASES 567 | B2M | 1.339 | DISEASES 811 | CALR | 1.034 | DISEASES 914 | CD2 | 1.916 | DISEASES 51744 | CD244 | 1.512 | DISEASES 23607 | CD2AP | 1.189 | DISEASES 916 | CD3E | 1.533 | DISEASES 959 | CD40LG | 2.001 | DISEASES 965 | CD58 | 2.013 | DISEASES 9308 | CD83 | 1.161 | DISEASES 942 | CD86 | 2.652 | DISEASES 6900 | CNTN2 | 3.172 | DISEASES 1385 | CREB1 | 3.025 | DISEASES 23373 | CRTC1 | 1.242 | DISEASES 1524 | CX3CR1 | 1.318 | DISEASES 4283 | CXCL9 | 2.451 | DISEASES 2833 | CXCR3 | 1.872 | DISEASES 51428 | DDX41 | 2.029 | DISEASES 6993 | DYNLT1 | 1.297 | DISEASES 79813 | EHMT1 | 1.561 | DISEASES 10919 | EHMT2 | 1.058 | DISEASES 1996 | ELAVL4 | 1.112 | DISEASES 2086 | ERV3-1 | 1.912 | DISEASES 30816 | ERVW-1 | 4.657 | DISEASES 80011 | FAM192A | 3.477 | DISEASES 356 | FASLG | 1.986 | DISEASES 2214 | FCGR3A | 1.211 | DISEASES 3344 | FOXN2 | 2.609 | DISEASES 50943 | FOXP3 | 3.486 | DISEASES 2625 | GATA3 | 1.353 | DISEASES 2633 | GBP1 | 1.537 | DISEASES 200504 | GKN2 | 1.007 | DISEASES 2939 | GSTA2 | 1.732 | DISEASES 2959 | GTF2B | 1.586 | DISEASES 3005 | H1F0 | 1.554 | DISEASES 3106 | HLA-B | 1.014 | DISEASES 3133 | HLA-E | 1.124 | DISEASES 3178 | HNRNPA1 | 4.192 | DISEASES 3181 | HNRNPA2B1 | 1.879 | DISEASES 3187 | HNRNPH1 | 1.691 | DISEASES 3190 | HNRNPK | 1.093 | DISEASES 3418 | IDH2 | 3.741 | DISEASES 3456 | IFNB1 | 1.867 | DISEASES 3586 | IL10 | 2.898 | DISEASES 3594 | IL12RB1 | 1.069 | DISEASES 3605 | IL17A | 1.535 | DISEASES 3561 | IL2RG | 1.592 | DISEASES 3662 | IRF4 | 1.436 | DISEASES 3683 | ITGAL | 1.134 | DISEASES 3716 | JAK1 | 1.078 | DISEASES 3718 | JAK3 | 1.339 | DISEASES 554203 | JPX | 2.934 | DISEASES 3725 | JUN | 1.069 | DISEASES 3803 | KIR2DL2 | 1.124 | DISEASES 3821 | KLRC1 | 1.007 | DISEASES 3916 | LAMP1 | 1.311 | DISEASES 3932 | LCK | 1.869 | DISEASES 4049 | LTA | 1.686 | DISEASES 84946 | LTV1 | 5.02 | DISEASES 4155 | MBP | 1.684 | DISEASES 4318 | MMP9 | 1.802 | DISEASES 4700 | NDUFA6 | 1.868 | DISEASES 9241 | NOG | 1.457 | DISEASES 5133 | PDCD1 | 1.166 | DISEASES 5170 | PDPK1 | 1.138 | DISEASES 26227 | PHGDH | 1.541 | DISEASES 5522 | PPP2R2C | 2.413 | DISEASES 5744 | PTHLH | 1.287 | DISEASES 5783 | PTPN13 | 1.402 | DISEASES 5970 | RELA | 1.169 | DISEASES 7732 | RNF112 | 1.371 | DISEASES 6230 | RPS25 | 2.182 | DISEASES 6280 | S100A9 | 1.398 | DISEASES 10507 | SEMA4D | 1.339 | DISEASES 5271 | SERPINB8 | 1.667 | DISEASES 871 | SERPINH1 | 4.842 | DISEASES 6513 | SLC2A1 | 1.857 | DISEASES 8651 | SOCS1 | 1.104 | DISEASES 6667 | SP1 | 1.266 | DISEASES 6776 | STAT5A | 1.284 | DISEASES 8887 | TAX1BP1 | 3.082 | DISEASES 117145 | THEM4 | 1.36 | DISEASES 7072 | TIA1 | 1.336 | DISEASES 201633 | TIGIT | 2.807 | DISEASES 121256 | TMEM132D | 1.679 | DISEASES 7124 | TNF | 3.078 | DISEASES 8784 | TNFRSF18 | 2.749 | DISEASES 7293 | TNFRSF4 | 1.589 | DISEASES 7514 | XPO1 | 2.189 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1658 |
|---|---|
| Disease | myelopathy, htlv-1-associated |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) HP:0009830 | Peripheral neuritis | 1 HP:0002196 | Myelopathy | 1 HP:0002527 | Falls | 1 HP:0002960 | Autoimmune condition | 1 |
| Disease ID | 1658 |
|---|---|
| Disease | myelopathy, htlv-1-associated |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs12979860 | 23259930 | 55729 | ATF7IP | umls:C0030481 | BeFree | The Interleukin 28B (IL28B) rs12979860 polymorphisms was recently reported to be associated with the human T-cell leukemia virus type 1 (HTLV-1) proviral load (PvL) and the development of the HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). | 0.036916095 | 2012 | IFNL3;IFNL4 | 19 | 39248147 | C | T |
| rs12979860 | 23259930 | 282617 | IFNL3 | umls:C0030481 | BeFree | The Interleukin 28B (IL28B) rs12979860 polymorphisms was recently reported to be associated with the human T-cell leukemia virus type 1 (HTLV-1) proviral load (PvL) and the development of the HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). | 0.000814326 | 2012 | IFNL3;IFNL4 | 19 | 39248147 | C | T |
| rs8099917 | 25233462 | 282617 | IFNL3 | umls:C0030481 | BeFree | IL28B gene polymorphism SNP rs8099917 genotype GG is associated with HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) in HTLV-1 carriers. | 0.000814326 | 2014 | NA | 19 | 39252525 | T | G |
| rs8099917 | 25233462 | 55729 | ATF7IP | umls:C0030481 | BeFree | IL28B gene polymorphism SNP rs8099917 genotype GG is associated with HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) in HTLV-1 carriers. | 0.036916095 | 2014 | NA | 19 | 39252525 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007256 | Abnormal pyramidal signs | MP:0009940 | abnormal hippocampus pyramidal cell morphology | any structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from |
| HP:0002313 | Spastic paraparesis | MP:0009434 | paraparesis | a weakness affecting lower or hind limbs |
Mapped by homologous gene(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002196 | Myelopathy | 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:0007256 | Abnormal pyramidal signs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002313 | Spastic paraparesis | MP:0013795 | abnormal colon goblet cell morphology | any structural anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the colon, whose primary function is to secrete gel-forming mucins, the major components of mucus |
| Disease ID | 1658 |
|---|---|
| Disease | myelopathy, htlv-1-associated |
| Case | (Waiting for update.) |