PedAM

Pediatric Disease Annotations & Medicines


	tropical spastic paraparesis

Disease ID	649
Disease	tropical spastic paraparesis
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-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 (tsp) tropical spastic paraplegia tropical spastic paraplegia (disorder) tropical spastic paraplegias tsp - tropical spastic paraparesis
Orphanet	ORPHANET:289326
OMIM	OMIM:159580
DOID	DOID:321
UMLS	C0030481
MeSH	D015493
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0023492 \| t cell leukemia \| 1 C0442874 \| neuropathy \| 1 C0021053 \| immune disorder \| 1 C0031117 \| peripheral neuropathy \| 1 C0037928 \| myelopathy \| 1 C0021053 \| immune disorders \| 1 C0023493 \| adult t cell leukemia \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 3123 \| HLA-DRB1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:166) 30009 \| TBX21 \| DISEASES 2999 \| GZMH \| DISEASES 3002 \| GZMB \| DISEASES 4313 \| MMP2 \| DISEASES 973 \| CD79A \| DISEASES 6348 \| CCL3 \| DISEASES 6347 \| CCL2 \| DISEASES 4790 \| NFKB1 \| DISEASES 3558 \| IL2 \| DISEASES 969 \| CD69 \| DISEASES 3458 \| IFNG \| DISEASES 1839 \| HBEGF \| DISEASES 3565 \| IL4 \| DISEASES 84618 \| NT5C1A \| DISEASES 4277 \| MICB \| DISEASES 3050 \| HBZ \| DISEASES 10462 \| CLEC10A \| DISEASES 3569 \| IL6 \| DISEASES 27348 \| TOR1B \| DISEASES 26160 \| IFT172 \| DISEASES 3417 \| IDH1 \| DISEASES 894 \| CCND2 \| DISEASES 55697 \| VAC14 \| DISEASES 466 \| ATF1 \| DISEASES 1387 \| CREBBP \| DISEASES 6132 \| RPL8 \| DISEASES 2033 \| EP300 \| DISEASES 3553 \| IL1B \| DISEASES 8850 \| KAT2B \| DISEASES 10578 \| GNLY \| DISEASES 941 \| CD80 \| DISEASES 2355 \| FOSL2 \| DISEASES 3383 \| ICAM1 \| DISEASES 7535 \| ZAP70 \| DISEASES 8829 \| NRP1 \| DISEASES 7078 \| TIMP3 \| DISEASES 939 \| CD27 \| DISEASES 1017 \| CDK2 \| DISEASES 3687 \| ITGAX \| DISEASES 7157 \| TP53 \| DISEASES 3001 \| GZMA \| DISEASES 3578 \| IL9 \| DISEASES 3439 \| IFNA1 \| DISEASES 23082 \| PPRC1 \| DISEASES 116337 \| PANX3 \| DISEASES 5922 \| RASA2 \| DISEASES 29028 \| ATAD2 \| DISEASES 7079 \| TIMP4 \| DISEASES 197258 \| FUK \| DISEASES 55540 \| IL17RB \| DISEASES 5692 \| PSMB4 \| DISEASES 6352 \| CCL5 \| DISEASES 6777 \| STAT5B \| DISEASES 10197 \| PSME3 \| DISEASES 2215 \| FCGR3B \| DISEASES 5966 \| REL \| DISEASES 2921 \| CXCL3 \| DISEASES 5364 \| PLXNB1 \| DISEASES 3600 \| IL15 \| DISEASES 1437 \| CSF2 \| DISEASES 201161 \| CENPV \| DISEASES 6356 \| CCL11 \| DISEASES 1493 \| CTLA4 \| DISEASES 3627 \| CXCL10 \| DISEASES 2353 \| FOS \| DISEASES 2752 \| GLUL \| DISEASES 695 \| BTK \| DISEASES 1808 \| DPYSL2 \| DISEASES 3661 \| IRF3 \| DISEASES 84868 \| HAVCR2 \| DISEASES 8837 \| CFLAR \| DISEASES 4793 \| NFKBIB \| DISEASES 7334 \| UBE2N \| DISEASES 10419 \| PRMT5 \| DISEASES 811 \| CALR \| DISEASES 9241 \| NOG \| DISEASES 8784 \| TNFRSF18 \| DISEASES 200504 \| GKN2 \| DISEASES 6667 \| SP1 \| DISEASES 8651 \| SOCS1 \| DISEASES 6900 \| CNTN2 \| DISEASES 5271 \| SERPINB8 \| DISEASES 3418 \| IDH2 \| DISEASES 942 \| CD86 \| DISEASES 3916 \| LAMP1 \| DISEASES 5133 \| PDCD1 \| DISEASES 5522 \| PPP2R2C \| DISEASES 80011 \| FAM192A \| DISEASES 3932 \| LCK \| DISEASES 6776 \| STAT5A \| DISEASES 3178 \| HNRNPA1 \| DISEASES 3716 \| JAK1 \| DISEASES 3344 \| FOXN2 \| DISEASES 3605 \| IL17A \| DISEASES 5170 \| PDPK1 \| DISEASES 3005 \| H1F0 \| DISEASES 23373 \| CRTC1 \| DISEASES 3181 \| HNRNPA2B1 \| DISEASES 10507 \| SEMA4D \| DISEASES 3187 \| HNRNPH1 \| DISEASES 3683 \| ITGAL \| DISEASES 1996 \| ELAVL4 \| DISEASES 871 \| SERPINH1 \| DISEASES 1524 \| CX3CR1 \| DISEASES 3821 \| KLRC1 \| DISEASES 23607 \| CD2AP \| DISEASES 916 \| CD3E \| DISEASES 4283 \| CXCL9 \| DISEASES 6993 \| DYNLT1 \| DISEASES 84946 \| LTV1 \| DISEASES 356 \| FASLG \| DISEASES 55811 \| ADCY10 \| DISEASES 2214 \| FCGR3A \| DISEASES 51744 \| CD244 \| DISEASES 6280 \| S100A9 \| DISEASES 117145 \| THEM4 \| DISEASES 26227 \| PHGDH \| DISEASES 914 \| CD2 \| DISEASES 965 \| CD58 \| DISEASES 2633 \| GBP1 \| DISEASES 2959 \| GTF2B \| DISEASES 959 \| CD40LG \| DISEASES 3725 \| JUN \| DISEASES 4318 \| MMP9 \| DISEASES 2833 \| CXCR3 \| DISEASES 3561 \| IL2RG \| DISEASES 177 \| AGER \| DISEASES 10919 \| EHMT2 \| DISEASES 50943 \| FOXP3 \| DISEASES 3190 \| HNRNPK \| DISEASES 3133 \| HLA-E \| DISEASES 9308 \| CD83 \| DISEASES 7293 \| TNFRSF4 \| DISEASES 2625 \| GATA3 \| DISEASES 3456 \| IFNB1 \| DISEASES 3662 \| IRF4 \| DISEASES 4155 \| MBP \| DISEASES 201633 \| TIGIT \| DISEASES 79924 \| ADM2 \| DISEASES 5744 \| PTHLH \| DISEASES 8887 \| TAX1BP1 \| DISEASES 4363 \| ABCC1 \| DISEASES 3803 \| KIR2DL2 \| DISEASES 5970 \| RELA \| DISEASES 7514 \| XPO1 \| DISEASES 1385 \| CREB1 \| DISEASES 2086 \| ERV3-1 \| DISEASES 3718 \| JAK3 \| DISEASES 5783 \| PTPN13 \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 7072 \| TIA1 \| DISEASES 3594 \| IL12RB1 \| DISEASES 4049 \| LTA \| DISEASES 121256 \| TMEM132D \| DISEASES 3586 \| IL10 \| DISEASES 6513 \| SLC2A1 \| DISEASES 79813 \| EHMT1 \| DISEASES 4700 \| NDUFA6 \| DISEASES 30816 \| ERVW-1 \| DISEASES 2939 \| GSTA2 \| DISEASES 51428 \| DDX41 \| DISEASES 6230 \| RPS25 \| DISEASES 567 \| B2M \| DISEASES 7732 \| RNF112 \| DISEASES 554203 \| JPX \| DISEASES
Locus	(Waiting for update.)

Disease ID	649
Disease	tropical spastic paraparesis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0002313 \| Spastic paraparesis HP:0002196 \| Myelopathy HP:0007256 \| Abnormal pyramidal signs
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:4) HP:0002527 \| Falls \| 1 HP:0002196 \| Myelopathy \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0009830 \| Peripheral neuritis \| 1

Disease ID	649
Disease	tropical spastic paraparesis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0021053 \| immune disorder \| 1

Manually Genotype(Total Text Mining 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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0030481	zidovudine	D015215	30516-87-1	paraparesis, tropical spastic	MESH:D015493	therapeutic	8413977

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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