PedAM

Pediatric Disease Annotations & Medicines


	bullous pemphigoid

Disease ID	25
Disease	bullous pemphigoid
Definition	A chronic and relatively benign subepidermal blistering disease usually of the elderly and without histopathologic acantholysis.
Synonym	bp - bullous pemphigoid bullous pemphigoid (disorder) bullous pemphigoids pemphigoid pemphigoid (disorder) pemphigoid bullous pemphigoid nos pemphigoid nos (disorder) pemphigoid, bullous pemphigoid, bullous [disease/finding] pemphigoid, nos pemphigoids
Orphanet	ORPHANET:703
DOID	DOID:8506
ICD10	ICD10CM:L12.0
UMLS	C0030805
MeSH	D010391
SNOMED-CT	SNOMEDCT_US_2016_09_01:77090002;SNOMEDCT_US_2016_09_01:86142006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:59) C0033860 \| psoriasis \| 5 C0027765 \| neurological disorders \| 3 C0027765 \| neurological disorder \| 3 C0042075 \| urological disorders \| 3 C0026769 \| multiple sclerosis \| 3 C0242379 \| lung cancer \| 3 C0042900 \| vitiligo \| 2 C0019069 \| hemophilia \| 2 C0027765 \| neurological disease \| 2 C0030567 \| parkinson's disease \| 2 C0007137 \| squamous cell carcinoma \| 2 C0042075 \| urological diseases \| 2 C0022595 \| darier's disease \| 1 C0206180 \| anaplastic large cell lymphoma \| 1 C0025202 \| melanoma \| 1 C0162566 \| porphyria cutanea tarda \| 1 C0026948 \| mycosis fungoides \| 1 C0149925 \| small cell lung cancer \| 1 C0006142 \| breast cancer \| 1 C0019069 \| haemophilia \| 1 C0011849 \| diabetes mellitus \| 1 C0079301 \| junctional epidermolysis bullosa \| 1 C0684249 \| carcinoma of lung \| 1 C0278883 \| metastatic melanoma \| 1 C0036220 \| kaposi's sarcoma \| 1 C0030567 \| parkinson disease \| 1 C0003873 \| rheumatoid arthritis \| 1 C0524851 \| degenerative neurologic disorders \| 1 C0238124 \| necrotizing fasciitis \| 1 C0024115 \| lung disorders \| 1 C0024419 \| primary macroglobulinemia \| 1 C0042373 \| vascular disease \| 1 C0024419 \| macroglobulinemia \| 1 C0024302 \| large cell lymphoma \| 1 C0042769 \| virus infection \| 1 C0002736 \| amyotrophic lateral sclerosis \| 1 C0042109 \| urticarial \| 1 C0014544 \| epilepsy \| 1 C0011603 \| dermatitis \| 1 C0030805 \| pemphigoid \| 1 C0032708 \| porphyria \| 1 C0027765 \| neurologic disorder \| 1 C0011608 \| dermatitis herpetiformis \| 1 C1261473 \| sarcoma \| 1 C0011847 \| diabetes \| 1 C0030807 \| pemphigus \| 1 C0032285 \| pneumonia \| 1 C0026946 \| mycosis \| 1 C0007642 \| cellulitis \| 1 C0007134 \| renal cell carcinoma \| 1 C0014742 \| erythema multiforme \| 1 C0011854 \| type 1 diabetes mellitus \| 1 C0011854 \| type 1 diabetes \| 1 C0021831 \| bowel disease \| 1 C0027765 \| neurologic disorders \| 1 C0040252 \| tinea corporis \| 1 C0021053 \| immune disease \| 1 C0015645 \| fasciitis \| 1 C0021390 \| inflammatory bowel disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) HLA-DRB1 \| 3123 \| ORPHANET HLA-DQB1 \| 3119 \| ORPHANET CXCL8 \| 3576 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) 1308 \| COL17A1 \| infer 2214 \| FCGR3A \| infer 3458 \| IFNG \| infer 3586 \| IL10 \| infer 3596 \| IL13 \| infer 3552 \| IL1A \| infer 3553 \| IL1B \| infer 3557 \| IL1RN \| infer 3565 \| IL4 \| infer 3566 \| IL4R \| infer 3569 \| IL6 \| infer 7124 \| TNF \| infer 3117 \| HLA-DQA1 \| infer 3119 \| HLA-DQB1 \| infer 3123 \| HLA-DRB1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:125) 6362 \| CCL18 \| DISEASES 10344 \| CCL26 \| DISEASES 1015 \| CDH17 \| DISEASES 51052 \| PRLH \| DISEASES 3861 \| KRT14 \| DISEASES 3691 \| ITGB4 \| DISEASES 22798 \| LAMB4 \| DISEASES 7414 \| VCL \| DISEASES 5008 \| OSM \| DISEASES 7076 \| TIMP1 \| DISEASES 6361 \| CCL17 \| DISEASES 2217 \| FCGRT \| DISEASES 973 \| CD79A \| DISEASES 7448 \| VTN \| DISEASES 3558 \| IL2 \| DISEASES 4254 \| KITLG \| DISEASES 3458 \| IFNG \| DISEASES 3565 \| IL4 \| DISEASES 3567 \| IL5 \| DISEASES 3485 \| IGFBP2 \| DISEASES 3336 \| HSPE1 \| DISEASES 26003 \| GORASP2 \| DISEASES 80306 \| MED28 \| DISEASES 7844 \| RNF103 \| DISEASES 667 \| DST \| DISEASES 718 \| C3 \| DISEASES 3860 \| KRT13 \| DISEASES 5199 \| CFP \| DISEASES 1215 \| CMA1 \| DISEASES 3852 \| KRT5 \| DISEASES 84246 \| MED10 \| DISEASES 1830 \| DSG3 \| DISEASES 1828 \| DSG1 \| DISEASES 1823 \| DSC1 \| DISEASES 3915 \| LAMC1 \| DISEASES 3569 \| IL6 \| DISEASES 26525 \| IL36RN \| DISEASES 57148 \| RALGAPB \| DISEASES 3552 \| IL1A \| DISEASES 1991 \| ELANE \| DISEASES 3574 \| IL7 \| DISEASES 2208 \| FCER2 \| DISEASES 4811 \| NID1 \| DISEASES 200576 \| PIKFYVE \| DISEASES 3383 \| ICAM1 \| DISEASES 51726 \| DNAJB11 \| DISEASES 10733 \| PLK4 \| DISEASES 9180 \| OSMR \| DISEASES 1824 \| DSC2 \| DISEASES 6352 \| CCL5 \| DISEASES 27306 \| HPGDS \| DISEASES 80155 \| NAA15 \| DISEASES 3562 \| IL3 \| DISEASES 55582 \| KIF27 \| DISEASES 51084 \| CRYL1 \| DISEASES 144568 \| A2ML1 \| DISEASES 2125 \| EVPL \| DISEASES 6356 \| CCL11 \| DISEASES 6037 \| RNASE3 \| DISEASES 6036 \| RNASE2 \| DISEASES 3596 \| IL13 \| DISEASES 10484 \| SEC23A \| DISEASES 2147 \| F2 \| DISEASES 5340 \| PLG \| DISEASES 4026 \| LPP \| DISEASES 81533 \| ITFG1 \| DISEASES 5345 \| SERPINF2 \| DISEASES 5339 \| PLEC \| DISEASES 3909 \| LAMA3 \| DISEASES 10250 \| SRRM1 \| DISEASES 5178 \| PEG3 \| DISEASES 11187 \| PKP3 \| DISEASES 6401 \| SELE \| DISEASES 201475 \| RAB12 \| DISEASES 1294 \| COL7A1 \| DISEASES 2152 \| F3 \| DISEASES 23760 \| PITPNB \| DISEASES 5133 \| PDCD1 \| DISEASES 3320 \| HSP90AA1 \| DISEASES 5329 \| PLAUR \| DISEASES 5493 \| PPL \| DISEASES 1308 \| COL17A1 \| DISEASES 7267 \| TTC3 \| DISEASES 728 \| C5AR1 \| DISEASES 3914 \| LAMB3 \| DISEASES 26151 \| NAT9 \| DISEASES 23644 \| EDC4 \| DISEASES 79947 \| DHDDS \| DISEASES 1825 \| DSC3 \| DISEASES 1803 \| DPP4 \| DISEASES 4509 \| MT-ATP8 \| DISEASES 7052 \| TGM2 \| DISEASES 9859 \| CEP170 \| DISEASES 3713 \| IVL \| DISEASES 2312 \| FLG \| DISEASES 2209 \| FCGR1A \| DISEASES 1810 \| DR1 \| DISEASES 128408 \| BHLHE23 \| DISEASES 959 \| CD40LG \| DISEASES 1486 \| CTBS \| DISEASES 1288 \| COL4A6 \| DISEASES 4318 \| MMP9 \| DISEASES 5328 \| PLAU \| DISEASES 10673 \| TNFSF13B \| DISEASES 50943 \| FOXP3 \| DISEASES 7133 \| TNFRSF1B \| DISEASES 386653 \| IL31 \| DISEASES 8718 \| TNFRSF25 \| DISEASES 5100 \| PCDH8 \| DISEASES 79026 \| AHNAK \| DISEASES 1832 \| DSP \| DISEASES 9350 \| CER1 \| DISEASES 1285 \| COL4A3 \| DISEASES 3655 \| ITGA6 \| DISEASES 960 \| CD44 \| DISEASES 7124 \| TNF \| DISEASES 3586 \| IL10 \| DISEASES 4345 \| CD200 \| DISEASES 51428 \| DDX41 \| DISEASES 83481 \| EPPK1 \| DISEASES 930 \| CD19 \| DISEASES 488 \| ATP2A2 \| DISEASES 7739 \| ZNF185 \| DISEASES 8437 \| RASAL1 \| DISEASES 100126781 \| SNAR-F \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) HLA-DRB1 \| 6p21.32 HLA-DQB1 \| 6p21.32

Disease ID	25
Disease	bullous pemphigoid
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:10) HP:0012733 \| Macule HP:0001824 \| Weight loss HP:0002719 \| Recurrent infections HP:0010783 \| Erythema HP:0000819 \| Diabetes mellitus HP:0000964 \| Eczema HP:0008066 \| Abnormal blistering of the skin HP:0003765 \| Psoriasis HP:0001025 \| Urticaria HP:0002960 \| Autoimmunity
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:25) HP:0003765 \| Psoriasis \| 5 HP:0200037 \| Skin vesicle \| 5 HP:0002960 \| Autoimmune condition \| 3 HP:0030731 \| Carcinoma \| 3 HP:0010783 \| Erythema \| 2 HP:0001297 \| Cerebral vascular events \| 2 HP:0001045 \| Blotchy loss of skin color \| 2 HP:0000989 \| pruritis \| 2 HP:0002860 \| Squamous cell carcinoma \| 2 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0002090 \| Pneumonia \| 1 HP:0030357 \| Small cell lung carcinoma \| 1 HP:0100658 \| Bacterial infection of skin \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0100242 \| Sarcoma \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0100726 \| Kaposi's sarcoma \| 1 HP:0002861 \| Melanoma \| 1 HP:0001019 \| Exfoliative dermititis \| 1 HP:0100537 \| Inflammation of the fascia \| 1 HP:0008066 \| Skin bullae \| 1 HP:0001880 \| Eosinophilia \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0005584 \| Renal cell carcinoma \| 1 HP:0007354 \| Amyotrophic lateral sclerosis \| 1

Disease ID	25
Disease	bullous pemphigoid
Manually Symptom	UMLS \| Name(Total Manually Symptoms:31) C2697424 \| gastric cancer C2364072 \| depression C2240374 \| eosinophilia C1370701 \| clear cell hidradenoma C1321589 \| hemophilia C1096116 \| acquired hemophilia C1095999 \| trichophytic granuloma C0743086 \| granulomatous dermatitis C0684249 \| lung cancer C0406653 \| eosinophilic spongiosis C0406352 \| acanthosis palmaris C0393639 \| autoimmune encephalopathy C0341012 \| oral herpes simplex infection C0240805 \| prodrome C0206698 \| cholangiocarcinoma C0085437 \| bacterial meningitis C0085106 \| hailey-hailey disease C0037284 \| skin lesions C0036161 \| o variant C0032633 \| pompholyx C0032586 \| polyradiculopathy C0030809 \| pemphigus vulgaris C0030804 \| cicatricial pemphigoid C0029166 \| oral manifestation C0027765 \| neurological disorders C0027697 \| nephritis C0019348 \| herpes simplex virus infection C0019080 \| hemorrhage C0017665 \| membranous glomerulonephritis C0011849 \| diabetes mellitus C0011608 \| dermatitis herpetiformis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:8) C0242379 \| lung cancer \| 3 C0027765 \| neurological disorders \| 3 C0037284 \| skin lesions \| 3 C1096116 \| acquired hemophilia \| 2 C0019069 \| hemophilia \| 2 C0011849 \| diabetes mellitus \| 1 C0014457 \| eosinophilia \| 1 C0011608 \| dermatitis herpetiformis \| 1

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

All Snps(Total Genotypes:0)
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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:0000163	Abnormality of the oral cavity	MP:0006271	abnormal involution of the mammary gland;HP:0001824	Weight loss

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000163	Abnormality of the oral cavity	MP:0010211	abnormal acute phase protein level;HP:0003765	Psoriasis

Chemical(Total Drugs:4)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0030805	dapsone	D003622	80-08-0	pemphigoid, bullous	MESH:D010391	therapeutic	11359455
C0030805	doxycycline	D004318	564-25-0	pemphigoid, bullous	MESH:D010391	therapeutic	11026799
C0030805	methotrexate	D008727	1959/5/2	pemphigoid, bullous	MESH:D010391	therapeutic	10321603
C0030805	thalidomide	D013792	50-35-1	pemphigoid, bullous	MESH:D010391	therapeutic	2985516

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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