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	pemphigus vulgaris

Disease ID	908
Disease	pemphigus vulgaris
Definition	An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes.
Synonym	pemphigus pv vulgaris pemphigus vulgaris (disorder) pemphigus, vulgaris pv - pemphigus vulgaris
Orphanet	ORPHANET:704
ICD10	ICD10CM:L10.0
UMLS	C0030809
SNOMED-CT	SNOMEDCT_US_2016_09_01:49420001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:24) C0014868 \| esophagitis \| 4 C0030807 \| pemphigus \| 3 C0036220 \| kaposi's sarcoma \| 2 C0003864 \| arthritis \| 2 C0033860 \| psoriasis \| 2 C1261473 \| sarcoma \| 2 C0029456 \| osteoporosis \| 2 C0040128 \| thyroid disease \| 2 C0040128 \| thyroid diseases \| 1 C0017574 \| gingivitis \| 1 C0035309 \| retinopathy \| 1 C0009324 \| ulcerative colitis \| 1 C0031099 \| periodontitis \| 1 C0042769 \| virus infection \| 1 C0015230 \| cutaneous eruption \| 1 C0238198 \| gastrointestinal stromal tumor \| 1 C0085652 \| pyoderma gangrenosum \| 1 C0013295 \| duodenal ulcer \| 1 C0040137 \| thyroid nodule \| 1 C0021053 \| immune disease \| 1 C0007137 \| squamous cell carcinoma \| 1 C0879615 \| stromal tumor \| 1 C0034212 \| pyoderma \| 1 C0003873 \| rheumatoid arthritis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:16) 1830 \| DSG3 \| CIPHER 3119 \| HLA-DQB1 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 3458 \| IFNG \| CIPHER 3586 \| IL10 \| CIPHER 3592 \| IL12A \| CIPHER 3552 \| IL1A \| CIPHER 3553 \| IL1B \| CIPHER 3554 \| IL1R1 \| CIPHER 3557 \| IL1RN \| CIPHER 3558 \| IL2 \| CIPHER 3565 \| IL4 \| CIPHER 3566 \| IL4R \| CIPHER 3569 \| IL6 \| CIPHER 7040 \| TGFB1 \| CIPHER 7124 \| TNF \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:52) 728113 \| ANXA8L1 \| 1.549 \| DISEASES 8416 \| ANXA9 \| 3.475 \| DISEASES 488 \| ATP2A2 \| 2.611 \| DISEASES 27032 \| ATP2C1 \| 1.94 \| DISEASES 930 \| CD19 \| 1.775 \| DISEASES 940 \| CD28 \| 1.465 \| DISEASES 958 \| CD40 \| 1.896 \| DISEASES 959 \| CD40LG \| 2.692 \| DISEASES 960 \| CD44 \| 1.095 \| DISEASES 1006 \| CDH8 \| 1.85 \| DISEASES 1308 \| COL17A1 \| 5.15 \| DISEASES 51428 \| DDX41 \| 3.028 \| DISEASES 1825 \| DSC3 \| 4.726 \| DISEASES 147409 \| DSG4 \| 3.265 \| DISEASES 1832 \| DSP \| 5.373 \| DISEASES 2214 \| FCGR3A \| 1.006 \| DISEASES 2219 \| FCN1 \| 1.423 \| DISEASES 50943 \| FOXP3 \| 1.867 \| DISEASES 3105 \| HLA-A \| 2.37 \| DISEASES 3106 \| HLA-B \| 1.117 \| DISEASES 3115 \| HLA-DPB1 \| 1.098 \| DISEASES 3117 \| HLA-DQA1 \| 3.048 \| DISEASES 3119 \| HLA-DQB1 \| 1.348 \| DISEASES 3120 \| HLA-DQB2 \| 1.462 \| DISEASES 3123 \| HLA-DRB1 \| 3.14 \| DISEASES 3127 \| HLA-DRB5 \| 1.195 \| DISEASES 3135 \| HLA-G \| 1.606 \| DISEASES 3437 \| IFIT3 \| 1.149 \| DISEASES 3586 \| IL10 \| 1.924 \| DISEASES 3713 \| IVL \| 1.311 \| DISEASES 50488 \| MINK1 \| 1.084 \| DISEASES 4719 \| NDUFS1 \| 1.529 \| DISEASES 4942 \| OAT \| 1.558 \| DISEASES 64065 \| PERP \| 2.554 \| DISEASES 11187 \| PKP3 \| 3.65 \| DISEASES 5328 \| PLAU \| 1.615 \| DISEASES 5329 \| PLAUR \| 2.283 \| DISEASES 5339 \| PLEC \| 2.288 \| DISEASES 5493 \| PPL \| 4.386 \| DISEASES 387 \| RHOA \| 1.412 \| DISEASES 677833 \| SNORA54 \| 1.797 \| DISEASES 200162 \| SPAG17 \| 1.107 \| DISEASES 6714 \| SRC \| 2.212 \| DISEASES 10250 \| SRRM1 \| 3.239 \| DISEASES 79723 \| SUV39H2 \| 1.672 \| DISEASES 29110 \| TBK1 \| 1.359 \| DISEASES 284486 \| THEM5 \| 1.089 \| DISEASES 7124 \| TNF \| 2.269 \| DISEASES 7133 \| TNFRSF1B \| 1.76 \| DISEASES 8718 \| TNFRSF25 \| 1.375 \| DISEASES 10673 \| TNFSF13B \| 1.748 \| DISEASES 7106 \| TSPAN4 \| 1.082 \| DISEASES
Locus	(Waiting for update.)

Disease ID	908
Disease	pemphigus vulgaris
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:10) HP:0000987 \| Atypical scarring of skin HP:0001025 \| Urticaria HP:0100792 \| Acantholysis HP:0008066 \| Abnormal blistering of the skin HP:0000163 \| Abnormality of the oral cavity HP:0100838 \| Recurrent cutaneous abscess formation HP:0002960 \| Autoimmunity HP:0001824 \| Weight loss HP:0002719 \| Recurrent infections HP:0008872 \| Feeding difficulties in infancy
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:28) HP:0100792 \| Acantholysis \| 5 HP:0100633 \| Inflammation of the esophagus \| 4 HP:0003765 \| Psoriasis \| 3 HP:0100242 \| Sarcoma \| 2 HP:0001369 \| Arthritis \| 2 HP:0000820 \| Thyroid abnormality \| 2 HP:0000939 \| Osteoporosis \| 2 HP:0002960 \| Autoimmune condition \| 2 HP:0008066 \| Skin bullae \| 2 HP:0100726 \| Kaposi's sarcoma \| 2 HP:0002955 \| Granulomatosis \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0008069 \| Neoplasm of the skin \| 1 HP:0000230 \| Inflamed gums \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0100806 \| Sepsis \| 1 HP:0000704 \| Pyorrhea \| 1 HP:0030731 \| Carcinoma \| 1 HP:0100723 \| Gastrointestinal stroma tumor \| 1 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0030318 \| Commissural cheilitis \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0000999 \| Pyoderma \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0100825 \| Inflammation of the lips \| 1 HP:0002588 \| Duodenal ulcer \| 1 HP:0012531 \| Pain \| 1

Disease ID	908
Disease	pemphigus vulgaris
Manually Symptom	UMLS \| Name(Total Manually Symptoms:34) C2364133 \| infection C1962986 \| glaucoma C1334149 \| iatrogenic kaposi's sarcoma C1000483 \| anemia C0747479 \| periodontal infection C0740272 \| cryptococcal infection C0406347 \| disseminated superficial porokeratosis C0406252 \| podopompholyx C0376379 \| herpetic gingivostomatitis C0278701 \| gastric adenocarcinoma C0275583 \| pulmonary nocardiosis C0263540 \| onychomadesis C0263367 \| koebner phenomenon C0221150 \| odynophagia C0038826 \| superinfection C0037284 \| skin lesions C0037284 \| skin lesion C0036220 \| kaposi's sarcoma C0034065 \| pulmonary embolism C0029172 \| oral submucous fibrosis C0029166 \| oral manifestation C0027721 \| minimal change nephropathy C0027339 \| nail disease C0026896 \| myasthenia gravis C0022595 \| darier's disease C0022568 \| keratitis C0019348 \| herpes simplex virus infection C0019348 \| herpes simplex infection C0019158 \| hepatitis C0017577 \| desquamative gingivitis C0017531 \| castleman's disease C0016436 \| folliculitis C0014866 \| esophageal stenosis C0007097 \| epithelial carcinoma
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0036220 \| kaposi's sarcoma \| 2 C0037284 \| skin lesion \| 1 C0029166 \| oral manifestation \| 1 C1334149 \| iatrogenic kaposi's sarcoma \| 1 C0017577 \| desquamative gingivitis \| 1

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

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

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:5)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0008872	Feeding difficulties in infancy	MP:0011075	abnormal macrophage activation involved in immune response	anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response
HP:0000987	Atypical scarring of skin	MP:0011205	excessive folding of visceral yolk sac	the appearance of wrinkles or folds on the surface of the visceral yolk sac
HP:0000163	Abnormality of the oral cavity	MP:0009657	failure of chorioallantoic fusion	failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
HP:0001824	Weight loss	MP:0005114	premature hair loss	release of fur at an earlier than expected time
HP:0008066	Abnormal blistering of the skin	MP:0009536	abnormal interstitial cell of Cajal morphology	any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which

Mapped by homologous gene(Total Items:10)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001824	Weight loss	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0000987	Atypical scarring of skin	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002960	Autoimmunity	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0002719	Recurrent infections	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0100838	Recurrent cutaneous abscess formation	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0100792	Acantholysis	MP:0013278	decreased fasted circulating glucose level	reduction in the amount of glucose in the blood at some defined time point after eating compared to controls
HP:0001025	Urticaria	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000163	Abnormality of the oral cavity	MP:0013501	increased fibroblast apoptosis	increase in the timing or the number of fibroblast cells undergoing programmed cell death
HP:0008066	Abnormal blistering of the skin	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0008872	Feeding difficulties in infancy	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine

Disease ID	908
Disease	pemphigus vulgaris
Case	(Waiting for update.)

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