PedAM

Pediatric Disease Annotations & Medicines


	lyme disease

Disease ID	225
Disease	lyme disease
Definition	An infectious disease caused by a spirochete, BORRELIA BURGDORFERI, which is transmitted chiefly by Ixodes dammini (see IXODES) and pacificus ticks in the United States and Ixodes ricinis (see IXODES) in Europe. It is a disease with early and late cutaneous manifestations plus involvement of the nervous system, heart, eye, and joints in variable combinations. The disease was formerly known as Lyme arthritis and first discovered at Old Lyme, Connecticut.
Synonym	borrelia burgdorferi infection borreliosis, lyme disease, lyme infection by borrelia burgdorferi infection due to borrelia burgdorferi sensu lato lyme borreliosis lyme dis lyme disease (disorder) lyme disease [disease/finding] lyme disease, early/mid lyme's disease lymes disease steere's disease
Orphanet	ORPHANET:91546
DOID	DOID:11729
UMLS	C0024198
MeSH	D008193
SNOMED-CT	SNOMEDCT_US_2016_09_01:23502006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:44) C0017677 \| erythema migrans \| 15 C0015230 \| rash \| 4 C0018784 \| sensorineural hearing loss \| 3 C0003864 \| arthritis \| 3 C0017658 \| glomerulonephritis \| 2 C0022660 \| acute renal failure \| 2 C0035078 \| renal failure \| 2 C0030312 \| pancytopenia \| 2 C0015464 \| facial nerve palsy \| 2 C0015469 \| facial paralysis \| 2 C0023418 \| leukemia \| 1 C0003874 \| septic arthritis \| 1 C0023434 \| chronic lymphocytic leukemia \| 1 C0004623 \| bacterial disease \| 1 C0019158 \| hepatitis \| 1 C0042769 \| viral infections \| 1 C0026769 \| multiple sclerosis \| 1 C0006112 \| metabolic encephalopathy \| 1 C0026975 \| myelitis \| 1 C0014038 \| encephalitis \| 1 C0042769 \| viral infection \| 1 C0004623 \| bacterial infections \| 1 C0042164 \| uveitis \| 1 C0235618 \| proliferative glomerulonephritis \| 1 C0154874 \| neuroretinitis \| 1 C0023364 \| leptospirosis \| 1 C0042166 \| intermediate uveitis \| 1 C0376175 \| bell palsy \| 1 C0027121 \| myositis \| 1 C0007758 \| cerebellar ataxia \| 1 C0002797 \| anaplasmosis \| 1 C0005697 \| neurogenic bladder \| 1 C0155686 \| acute myocarditis \| 1 C0015469 \| facial nerve paralysis \| 1 C0021359 \| infertility \| 1 C0015464 \| facial palsy \| 1 C0016053 \| fibromyalgia \| 1 C0004134 \| ataxia \| 1 C0004623 \| bacterial infection \| 1 C0017662 \| membranoproliferative glomerulonephritis \| 1 C0014175 \| endometriosis \| 1 C0027059 \| myocarditis \| 1 C0004576 \| babesiosis \| 1 C0023448 \| lymphocytic leukemia \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 3119 \| HLA-DQB1 \| infer 3123 \| HLA-DRB1 \| infer 7096 \| TLR1 \| infer 7097 \| TLR2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:186) 10942 \| PRSS21 \| DISEASES 1634 \| DCN \| DISEASES 5010 \| CLDN11 \| DISEASES 9942 \| XYLB \| DISEASES 5594 \| MAPK1 \| DISEASES 4627 \| MYH9 \| DISEASES 4150 \| MAZ \| DISEASES 2137 \| EXTL3 \| DISEASES 8797 \| TNFRSF10A \| DISEASES 973 \| CD79A \| DISEASES 6671 \| SP4 \| DISEASES 10392 \| NOD1 \| DISEASES 1592 \| CYP26A1 \| DISEASES 6348 \| CCL3 \| DISEASES 6347 \| CCL2 \| DISEASES 6346 \| CCL1 \| DISEASES 7448 \| VTN \| DISEASES 3558 \| IL2 \| DISEASES 51166 \| AADAT \| DISEASES 3458 \| IFNG \| DISEASES 6206 \| RPS12 \| DISEASES 3565 \| IL4 \| DISEASES 57403 \| RAB22A \| DISEASES 8192 \| CLPP \| DISEASES 718 \| C3 \| DISEASES 1236 \| CCR7 \| DISEASES 23002 \| DAAM1 \| DISEASES 821 \| CANX \| DISEASES 6351 \| CCL4 \| DISEASES 9459 \| ARHGEF6 \| DISEASES 51659 \| GINS2 \| DISEASES 1401 \| CRP \| DISEASES 4608 \| MYBPH \| DISEASES 81494 \| CFHR5 \| DISEASES 967 \| CD63 \| DISEASES 9816 \| URB2 \| DISEASES 3569 \| IL6 \| DISEASES 1208 \| CLPS \| DISEASES 7097 \| TLR2 \| DISEASES 9252 \| RPS6KA5 \| DISEASES 1387 \| CREBBP \| DISEASES 3553 \| IL1B \| DISEASES 5000 \| ORC4 \| DISEASES 4811 \| NID1 \| DISEASES 9595 \| CYTIP \| DISEASES 192666 \| KRT24 \| DISEASES 3383 \| ICAM1 \| DISEASES 7416 \| VDAC1 \| DISEASES 6717 \| SRI \| DISEASES 3687 \| ITGAX \| DISEASES 7851 \| MALL \| DISEASES 2044 \| EPHA5 \| DISEASES 3606 \| IL18 \| DISEASES 55364 \| IMPACT \| DISEASES 10563 \| CXCL13 \| DISEASES 6352 \| CCL5 \| DISEASES 6811 \| STX5 \| DISEASES 7412 \| VCAM1 \| DISEASES 213 \| ALB \| DISEASES 6374 \| CXCL5 \| DISEASES 3600 \| IL15 \| DISEASES 84659 \| RNASE7 \| DISEASES 201161 \| CENPV \| DISEASES 10845 \| CLPX \| DISEASES 6866 \| TAC3 \| DISEASES 64127 \| NOD2 \| DISEASES 94274 \| PPP1R14A \| DISEASES 10815 \| CPLX1 \| DISEASES 3627 \| CXCL10 \| DISEASES 56246 \| MRAP \| DISEASES 6373 \| CXCL11 \| DISEASES 157570 \| ESCO2 \| DISEASES 27087 \| B3GAT1 \| DISEASES 3159 \| HMGA1 \| DISEASES 6363 \| CCL19 \| DISEASES 5340 \| PLG \| DISEASES 11007 \| CCDC85B \| DISEASES 56667 \| MUC13 \| DISEASES 3078 \| CFHR1 \| DISEASES 30835 \| CD209 \| DISEASES 53347 \| UBASH3A \| DISEASES 10730 \| YME1L1 \| DISEASES 6470 \| SHMT1 \| DISEASES 811 \| CALR \| DISEASES 5345 \| SERPINF2 \| DISEASES 4312 \| MMP1 \| DISEASES 4191 \| MDH2 \| DISEASES 8548 \| BLZF1 \| DISEASES 706 \| TSPO \| DISEASES 752 \| FMNL1 \| DISEASES 3665 \| IRF7 \| DISEASES 54059 \| YBEY \| DISEASES 5155 \| PDGFB \| DISEASES 5271 \| SERPINB8 \| DISEASES 6401 \| SELE \| DISEASES 942 \| CD86 \| DISEASES 342184 \| FMN1 \| DISEASES 2246 \| FGF1 \| DISEASES 51337 \| THEM6 \| DISEASES 5329 \| PLAUR \| DISEASES 3329 \| HSPD1 \| DISEASES 7100 \| TLR5 \| DISEASES 966 \| CD59 \| DISEASES 25870 \| SUMF2 \| DISEASES 9588 \| PRDX6 \| DISEASES 92399 \| MRRF \| DISEASES 3455 \| IFNAR2 \| DISEASES 3605 \| IL17A \| DISEASES 6035 \| RNASE1 \| DISEASES 755 \| C21orf2 \| DISEASES 5606 \| MAP2K3 \| DISEASES 4635 \| MYL4 \| DISEASES 9260 \| PDLIM7 \| DISEASES 10656 \| KHDRBS3 \| DISEASES 54097 \| FAM3B \| DISEASES 23141 \| ANKLE2 \| DISEASES 51530 \| ZC3HC1 \| DISEASES 2013 \| EMP2 \| DISEASES 4519 \| MT-CYB \| DISEASES 4513 \| MT-CO2 \| DISEASES 4283 \| CXCL9 \| DISEASES 7096 \| TLR1 \| DISEASES 9859 \| CEP170 \| DISEASES 3080 \| CFHR2 \| DISEASES 3075 \| CFH \| DISEASES 5321 \| PLA2G4A \| DISEASES 6045 \| RNF2 \| DISEASES 10223 \| GPA33 \| DISEASES 9507 \| ADAMTS4 \| DISEASES 912 \| CD1D \| DISEASES 8528 \| DDO \| DISEASES 5654 \| HTRA1 \| DISEASES 1520 \| CTSS \| DISEASES 5016 \| OVGP1 \| DISEASES 2633 \| GBP1 \| DISEASES 959 \| CD40LG \| DISEASES 10561 \| IFI44 \| DISEASES 3434 \| IFIT1 \| DISEASES 3437 \| IFIT3 \| DISEASES 57109 \| REXO4 \| DISEASES 958 \| CD40 \| DISEASES 4318 \| MMP9 \| DISEASES 4904 \| YBX1 \| DISEASES 22845 \| DOLK \| DISEASES 5328 \| PLAU \| DISEASES 50945 \| TBX22 \| DISEASES 2516 \| NR5A1 \| DISEASES 2833 \| CXCR3 \| DISEASES 4153 \| MBL2 \| DISEASES 7099 \| TLR4 \| DISEASES 3376 \| IARS \| DISEASES 6668 \| SP2 \| DISEASES 116511 \| MAS1L \| DISEASES 140767 \| NRSN1 \| DISEASES 6354 \| CCL7 \| DISEASES 29103 \| DNAJC15 \| DISEASES 51284 \| TLR7 \| DISEASES 10333 \| TLR6 \| DISEASES 4155 \| MBP \| DISEASES 5888 \| RAD51 \| DISEASES 55576 \| STAB2 \| DISEASES 6355 \| CCL8 \| DISEASES 2919 \| CXCL1 \| DISEASES 6387 \| CXCL12 \| DISEASES 5970 \| RELA \| DISEASES 176 \| ACAN \| DISEASES 7124 \| TNF \| DISEASES 4615 \| MYD88 \| DISEASES 9924 \| PAN2 \| DISEASES 388372 \| CCL4L1 \| DISEASES 5087 \| PBX1 \| DISEASES 84148 \| KAT8 \| DISEASES 3586 \| IL10 \| DISEASES 721 \| C4B \| DISEASES 51428 \| DDX41 \| DISEASES 5238 \| PGM3 \| DISEASES 2920 \| CXCL2 \| DISEASES 23221 \| RHOBTB2 \| DISEASES 2197 \| FAU \| DISEASES 930 \| CD19 \| DISEASES 3684 \| ITGAM \| DISEASES 11331 \| PHB2 \| DISEASES 8284 \| KDM5D \| DISEASES 7786 \| MAP3K12 \| DISEASES 4576 \| MT-TT \| DISEASES 94161 \| SNORD46 \| DISEASES
Locus	(Waiting for update.)

Disease ID	225
Disease	lyme disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:24) HP:0011675 \| Arrhythmia HP:0002829 \| Arthralgia HP:0001678 \| Atrioventricular block HP:0001324 \| Muscle weakness HP:0000708 \| Behavioral abnormality HP:0009830 \| Peripheral neuropathy HP:0004334 \| Dermal atrophy HP:0002354 \| Memory impairment HP:0003326 \| Myalgia HP:0001945 \| Fever HP:0100576 \| Amaurosis fugax HP:0001386 \| Joint swelling HP:0002315 \| Headache HP:0100785 \| Insomnia HP:0200036 \| Skin nodule HP:0012378 \| Fatigue HP:0000554 \| Uveitis HP:0001369 \| Arthritis HP:0002017 \| Nausea and vomiting HP:0002383 \| Encephalitis HP:0006824 \| Cranial nerve paralysis HP:0001287 \| Meningitis HP:0000613 \| Photophobia HP:0003401 \| Paresthesia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:46) HP:0010783 \| Erythema \| 15 HP:0010628 \| Facial palsy, unilateral or bilateral \| 4 HP:0001369 \| Arthritis \| 3 HP:0003470 \| Inability to move \| 3 HP:0000407 \| sensorineural hearing loss \| 3 HP:0001876 \| Low blood cell count \| 2 HP:0003613 \| Antiphospholipid antibodies \| 2 HP:0002829 \| Arthralgias \| 2 HP:0007209 \| Facial paresis \| 2 HP:0012531 \| Pain \| 2 HP:0000099 \| Glomerular nephritis \| 2 HP:0000083 \| Renal insufficiency \| 2 HP:0012378 \| Fatigue \| 2 HP:0001919 \| Acute renal failure \| 2 HP:0012124 \| Intermediate uveitis \| 1 HP:0002039 \| Anorexia \| 1 HP:0002383 \| Encephalitis \| 1 HP:0001251 \| Ataxia \| 1 HP:0002459 \| Dysautonomia \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0012229 \| Cerebrospinal fluid pleocytosis \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0003447 \| Axonal loss \| 1 HP:0002315 \| Headaches \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0003095 \| Septic arthritis \| 1 HP:0001909 \| Leukemia \| 1 HP:0000793 \| Membranoproliferative glomerulonephritis \| 1 HP:0030127 \| Endometriosis \| 1 HP:0000011 \| Neurogenic bladder \| 1 HP:0010543 \| Opsoclonus \| 1 HP:0003249 \| Genital ulcers \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0000016 \| Urinary retention \| 1 HP:0005550 \| Chronic lymphatic leukemia \| 1 HP:0008052 \| Retinal fold \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0000554 \| Uveitis \| 1 HP:0001945 \| Fever \| 1 HP:0012819 \| Myocarditis \| 1 HP:0012486 \| Inflammation of spinal cord \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0430025 \| Bilateral facial paralysis \| 1 HP:0012432 \| Chronic fatigue \| 1 HP:0000789 \| Infertility \| 1

Disease ID	225
Disease	lyme disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:93) C2711548 \| infectious process C2707258 \| infections C2598155 \| pain C2364324 \| increased intracranial pressure C2364133 \| infection C2350476 \| orbital myositis C2240374 \| eosinophilia C2215935 \| complete heart block C2108077 \| atrioventricular block C1963101 \| encephalopathy C1963066 \| joint pain C1518296 \| neuropathogenesis C1504541 \| cerebellitis C1333272 \| demyelinating encephalopathy C1288283 \| anetoderma C1253937 \| pericardial effusion C1142028 \| peripheral nerve palsy C0948807 \| hepatic impairment C0948264 \| neuroborreliosis C0869523 \| carditis C0752303 \| urological manifestations C0752303 \| urological manifestation C0752252 \| neuromuscular manifestations C0679466 \| cognitive deficits C0522224 \| palsy C0497552 \| nervous system abnormalities C0497327 \| dementia C0442874 \| neuropathy C0422833 \| ent symptoms C0271051 \| macular edema C0270886 \| polyneuritis cranialis C0264886 \| conduction disorders C0263776 \| coxitis C0240111 \| arthritis of the knee C0235946 \| cerebral atrophy C0235369 \| granulomatous hepatitis C0235031 \| neurological symptoms C0231443 \| musculoskeletal symptoms C0206586 \| endolymphatic hydrops C0155686 \| acute myocarditis C0151517 \| complete av block C0151317 \| chronic infection C0151295 \| mononeuritis multiplex C0040188 \| tic disorders C0038525 \| subarachnoid hemorrhage C0038454 \| stroke C0037771 \| spastic paraparesis C0037285 \| skin manifestations C0037285 \| skin manifestation C0037284 \| skin lesions C0037284 \| skin lesion C0035222 \| adult respiratory distress syndrome C0034544 \| radiculitis C0034152 \| schoenlein-henoch purpura C0033845 \| pseudotumour cerebri C0033845 \| pseudotumor cerebri syndrome C0033845 \| pseudotumor cerebri C0032587 \| polyradiculoneuropathy C0032586 \| polyradiculopathy C0031117 \| peripheral neuropathies C0030326 \| panniculitis C0030312 \| pancytopenia C0029134 \| optic neuritis C0028866 \| oculomotor nerve paralysis C0026976 \| transverse myelitis C0025309 \| meningoencephalitis C0024236 \| lymphoedema C0024205 \| lymphadenitis C0022568 \| keratitis C0019158 \| hepatitis C0018799 \| heart disorders C0018794 \| heart block C0018784 \| sensorineural hearing loss C0018524 \| hallucinations C0017677 \| erythema migrans C0015469 \| facial paralysis C0015469 \| facial palsy C0015469 \| facial nerve palsy C0015458 \| progressive hemifacial atrophy C0015411 \| eye findings C0015397 \| eye disorders C0015230 \| rash C0015230 \| exanthem C0014740 \| erythema chronicum migrans C0014070 \| encephalomyelitis C0011633 \| dermatomyositis C0011168 \| deglutition disorders C0007684 \| cns infection C0006123 \| branch retinal artery occlusion C0004936 \| mental disorders C0004245 \| atrioventricular heart block C0003873 \| r arthritis C0003864 \| arthritis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:24) C0009450 \| infection \| 19 C0017677 \| erythema migrans \| 15 C0422833 \| ent symptoms \| 8 C0948264 \| neuroborreliosis \| 4 C0522224 \| palsy \| 4 C0015230 \| rash \| 4 C0021311 \| infections \| 3 C0018784 \| sensorineural hearing loss \| 3 C0003864 \| arthritis \| 3 C0869523 \| carditis \| 2 C0003862 \| joint pain \| 2 C0030312 \| pancytopenia \| 2 C0752303 \| urological manifestation \| 2 C0015464 \| facial nerve palsy \| 2 C0030193 \| pain \| 2 C0015469 \| facial paralysis \| 2 C2350476 \| orbital myositis \| 1 C0752303 \| urological manifestations \| 1 C0038454 \| stroke \| 1 C0019158 \| hepatitis \| 1 C0015464 \| facial palsy \| 1 C0155686 \| acute myocarditis \| 1 C0026976 \| transverse myelitis \| 1 C0085584 \| encephalopathy \| 1

Manually Genotype(Total Text Mining 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
rs5743618	25784560	7096	TLR1	umls:C0024198	BeFree	The aim of the present study was to investigate the Arg753Gln single-nucleotide polymorphism (SNP) of the TLR2 gene, and the isoleucine to serine transversion at position 602 (Ile602Ser) of the TLR1 gene (previously associated with Lyme disease), in leptospirosis patients compared to healthy controls, carrying out a retrospective case/control study.	0.005905708	2015	TLR1	4	38797027	C	A
rs5743618	25784560	7097	TLR2	umls:C0024198	BeFree	The aim of the present study was to investigate the Arg753Gln single-nucleotide polymorphism (SNP) of the TLR2 gene, and the isoleucine to serine transversion at position 602 (Ile602Ser) of the TLR1 gene (previously associated with Lyme disease), in leptospirosis patients compared to healthy controls, carrying out a retrospective case/control study.	0.009987267	2015	TLR1	4	38797027	C	A
rs5743708	25784560	7097	TLR2	umls:C0024198	BeFree	The aim of the present study was to investigate the Arg753Gln single-nucleotide polymorphism (SNP) of the TLR2 gene, and the isoleucine to serine transversion at position 602 (Ile602Ser) of the TLR1 gene (previously associated with Lyme disease), in leptospirosis patients compared to healthy controls, carrying out a retrospective case/control study.	0.009987267	2015	TLR2	4	153705165	G	A
rs5743708	16081826	7096	TLR1	umls:C0024198	BeFree	These data suggest that Arg753Gln may protect from the development of late stage LD due to a reduced signaling via TLR-2/TLR-1.	0.005905708	2005	TLR2	4	153705165	G	A
rs5743708	25784560	7096	TLR1	umls:C0024198	BeFree	The aim of the present study was to investigate the Arg753Gln single-nucleotide polymorphism (SNP) of the TLR2 gene, and the isoleucine to serine transversion at position 602 (Ile602Ser) of the TLR1 gene (previously associated with Lyme disease), in leptospirosis patients compared to healthy controls, carrying out a retrospective case/control study.	0.005905708	2015	TLR2	4	153705165	G	A
rs5743708	16081826	7097	TLR2	umls:C0024198	BeFree	Heterozygous Arg753Gln polymorphism of human TLR-2 impairs immune activation by Borrelia burgdorferi and protects from late stage Lyme disease.	0.009987267	2005	TLR2	4	153705165	G	A

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
C0024198	doxycycline	D004318	564-25-0	lyme disease	MESH:D008193	therapeutic	17103211

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

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