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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   pyoderma gangrenosum
  

Disease ID 318
Disease pyoderma gangrenosum
Definition
An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown.
Synonym
gangrenosum pyoderma
gangrenous pyoderma
pyoderma gangenosum
pyoderma gangrenosa
pyoderma gangrenosum (disorder)
pyoderma gangrenosum [disease/finding]
pyoderma gangrenous
Orphanet
DOID
ICD10
UMLS
C0085652
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:59)
C0021390  |  inflammatory bowel disease  |  13
C0009324  |  ulcerative colitis  |  13
C0021831  |  bowel disease  |  12
C0009319  |  colitis  |  8
C0010346  |  crohn's disease  |  5
C0003873  |  rheumatoid arthritis  |  3
C0026986  |  myelodysplastic syndrome  |  2
C0007102  |  colon cancer  |  2
C0085160  |  hidradenitis  |  2
C0162836  |  hidradenitis suppurativa  |  2
C0009447  |  common variable immunodeficiency  |  2
C0042384  |  vasculitis  |  2
C0036416  |  scleritis  |  2
C0376545  |  hematological malignancy  |  1
C0276758  |  fusarium infection  |  1
C0019196  |  hepatitis c  |  1
C0022568  |  keratitis  |  1
C0039263  |  takayasu's arteritis  |  1
C0034150  |  purpura  |  1
C0079774  |  peripheral t-cell lymphoma  |  1
C0001768  |  agammaglobulinemia  |  1
C0030312  |  pancytopenia  |  1
C0001815  |  idiopathic myelofibrosis  |  1
C0281963  |  red cell aplasia  |  1
C0012814  |  colonic diverticulitis  |  1
C0027947  |  neutropenia  |  1
C0221023  |  cyclic neutropenia  |  1
C0011603  |  dermatitis  |  1
C0206141  |  idiopathic hypereosinophilic syndrome  |  1
C0007134  |  renal cell carcinoma  |  1
C0004903  |  beckwith wiedemann syndrome  |  1
C0221026  |  x-linked agammaglobulinemia  |  1
C0030807  |  pemphigus  |  1
C0400821  |  microscopic colitis  |  1
C0001815  |  myelofibrosis  |  1
C0001815  |  chronic idiopathic myelofibrosis  |  1
C0029443  |  osteomyelitis  |  1
C0024314  |  lymphoproliferative disorder  |  1
C0272412  |  splenic abscess  |  1
C0007570  |  celiac disease  |  1
C0035222  |  acute respiratory distress syndrome  |  1
C0004943  |  behcet's disease  |  1
C0036421  |  systemic sclerosis  |  1
C0152026  |  retinal vasculitis  |  1
C0013595  |  eczema  |  1
C0263398  |  erythema elevatum diutinum  |  1
C0003864  |  arthritis  |  1
C0002726  |  amyloidosis  |  1
C0007134  |  renal carcinoma  |  1
C0012813  |  diverticulitis  |  1
C0034902  |  pure red cell aplasia  |  1
C1704437  |  respiratory distress syndrome  |  1
C0042769  |  virus infection  |  1
C0021171  |  incontinentia pigmenti  |  1
C0019158  |  hepatitis  |  1
C0241910  |  autoimmune hepatitis  |  1
C1692886  |  pyogenic arthritis  |  1
C0043117  |  idiopathic thrombocytopenic purpura  |  1
C0030809  |  pemphigus vulgaris  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:35)
9447  |  AIM2  |  1.236  |  DISEASES
79092  |  CARD14  |  2.958  |  DISEASES
22900  |  CARD8  |  1.804  |  DISEASES
834  |  CASP1  |  1.898  |  DISEASES
6358  |  CCL14  |  1.945  |  DISEASES
9332  |  CD163  |  1.263  |  DISEASES
50489  |  CD207  |  1.14  |  DISEASES
958  |  CD40  |  1.194  |  DISEASES
959  |  CD40LG  |  2.069  |  DISEASES
8804  |  CREG1  |  1.907  |  DISEASES
2833  |  CXCR3  |  1.145  |  DISEASES
10938  |  EHD1  |  1.186  |  DISEASES
2242  |  FES  |  1.343  |  DISEASES
2263  |  FGFR2  |  1.092  |  DISEASES
3605  |  IL17A  |  1.961  |  DISEASES
23765  |  IL17RA  |  1.039  |  DISEASES
3683  |  ITGAL  |  1.365  |  DISEASES
4524  |  MTHFR  |  1.439  |  DISEASES
58484  |  NLRC4  |  2.076  |  DISEASES
22861  |  NLRP1  |  1.374  |  DISEASES
114548  |  NLRP3  |  4.823  |  DISEASES
5155  |  PDGFB  |  1.315  |  DISEASES
5236  |  PGM1  |  1.17  |  DISEASES
5696  |  PSMB8  |  1.185  |  DISEASES
9051  |  PSTPIP1  |  6.813  |  DISEASES
9050  |  PSTPIP2  |  2.537  |  DISEASES
5777  |  PTPN6  |  1.662  |  DISEASES
5275  |  SERPINB13  |  2.369  |  DISEASES
347734  |  SLC35B2  |  1.298  |  DISEASES
6491  |  STIL  |  1.261  |  DISEASES
54790  |  TET2  |  2.761  |  DISEASES
7124  |  TNF  |  3.976  |  DISEASES
7133  |  TNFRSF1B  |  3.928  |  DISEASES
10758  |  TRAF3IP2  |  1.783  |  DISEASES
9322  |  TRIP10  |  2.053  |  DISEASES
Locus(Waiting for update.)
Disease ID 318
Disease pyoderma gangrenosum
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:15)
HP:0200039  |  Pustule
HP:0002829  |  Arthralgia
HP:0001075  |  Atrophic scars
HP:0003326  |  Myalgia
HP:0200037  |  Skin vesicle
HP:0008066  |  Abnormal blistering of the skin
HP:0002863  |  Myelodysplasia
HP:0002037  |  Inflammation of the large intestine
HP:0001945  |  Fever
HP:0012324  |  Myeloid leukemia
HP:0200042  |  Skin ulcer
HP:0200034  |  Papule
HP:0001370  |  Rheumatoid arthritis
HP:0010702  |  Increased antibody level in blood
HP:0100614  |  Myositis
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:36)
HP:0100279  |  Ulcerative colitis  |  12
HP:0002583  |  Colitis  |  7
HP:0100280  |  Morbus Crohn  |  5
HP:0001370  |  Rheumatoid arthritis  |  3
HP:0002633  |  Vasculitis  |  2
HP:0002863  |  Myelodysplastic syndrome  |  2
HP:0005584  |  Renal cell carcinoma  |  2
HP:0003003  |  Colon cancer  |  2
HP:0100532  |  Scleritis  |  2
HP:0040154  |  Hidradenitis suppurativa  |  2
HP:0002608  |  Celiac disease  |  1
HP:0200042  |  Skin ulcer  |  1
HP:0100570  |  Carcinoid tumor  |  1
HP:0002754  |  Bone infection  |  1
HP:0001369  |  Arthritis  |  1
HP:0000491  |  Corneal inflammation  |  1
HP:0100583  |  Corneal perforation  |  1
HP:0005523  |  Lymphoproliferative disorder  |  1
HP:0008110  |  Equinovarus deformity  |  1
HP:0000964  |  Eczema  |  1
HP:0012115  |  Liver inflammation  |  1
HP:0001762  |  Talipes equinovarus  |  1
HP:0000979  |  Purpura  |  1
HP:0004432  |  Agammaglobulinaemia  |  1
HP:0100847  |  Pustulosis palmaris et plantaris  |  1
HP:0002955  |  Granulomatosis  |  1
HP:0002098  |  Respiratory distress  |  1
HP:0011974  |  Myelofibrosis  |  1
HP:0012410  |  Pure red cell aplasia  |  1
HP:0012089  |  Arteritis  |  1
HP:0100550  |  Rupture of tendons  |  1
HP:0011034  |  Amyloid disease  |  1
HP:0030731  |  Carcinoma  |  1
HP:0000155  |  Oral ulcer  |  1
HP:0001875  |  Neutropenia  |  1
HP:0001876  |  Low blood cell count  |  1
Disease ID 318
Disease pyoderma gangrenosum
Manually Symptom
UMLS  | Name(Total Manually Symptoms:27)
C2073625  |  pleural effusion
C1562901  |  peripheral ulcerative keratitis
C1555769  |  pulmonary disease
C1304219  |  rheumatoid neutrophilic dermatitis
C1257847  |  hemorrhagic rectocolitis
C1136085  |  monoclonal gammopathy
C0748159  |  pulmonary involvement
C0586407  |  skin symptoms
C0566602  |  primary sclerosing cholangitis
C0497156  |  lymphadenopathy
C0339194  |  nodular scleritis
C0272396  |  lymph node abscess
C0206061  |  interstitial pneumonia
C0178703  |  hypertrophic osteoarthropathy
C0155354  |  scleromalacia perforans
C0086438  |  hypogammaglobulinemia
C0039263  |  takayasu's arteritis
C0037928  |  myelopathy
C0037284  |  skin lesions
C0032305  |  pneumocystis carinii pneumonia
C0032285  |  pneumonitis
C0024205  |  adenitis
C0023223  |  leg ulcers
C0022408  |  articular disease
C0010346  |  crohn's disease
C0009324  |  ulcerative colitis
C0003864  |  arthritis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:10)
C0009324  |  ulcerative colitis  |  12
C0010346  |  crohn's disease  |  5
C0748159  |  pulmonary involvement  |  4
C0023223  |  leg ulcers  |  2
C0003864  |  arthritis  |  1
C0339194  |  nodular scleritis  |  1
C0037284  |  skin lesions  |  1
C1304219  |  rheumatoid neutrophilic dermatitis  |  1
C1562901  |  peripheral ulcerative keratitis  |  1
C0039263  |  takayasu's arteritis  |  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:3)
HP ID HP Name MP ID MP Name Annotation
HP:0010702Increased antibody level in bloodMP:0012336decreased vitamin D levelreduced level of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalci
HP:0002037Inflammation of the large intestineMP:0004842abnormal large intestine crypts of Lieberkuhn morphologyany structural anomaly of the tubular intestinal glands found in the mucosal membranes of the large intestine
HP:0008066Abnormal blistering of the skinMP:0009536abnormal interstitial cell of Cajal morphologyany 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:14)
HP ID HP Name MP ID MP Name Annotation
HP:0200034PapuleMP:0013745abnormal eyelid margin morphologyany structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium
HP:0100614MyositisMP:0011635abnormal mitochondrial crista morphologyAny of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe
HP:0001075Atrophic scarsMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001945FeverMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002829ArthralgiaMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002037Inflammation of the large intestineMP:0013803increased IgG2 levelgreater than normal immunoglobulin class G2 level
HP:0010702Increased antibody level in bloodMP:0013696increased granulocyte monocyte progenitor cell numberincrease in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0200042Skin ulcerMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0008066Abnormal blistering of the skinMP:0020039increased bone ossificationincrease 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:0002863MyelodysplasiaMP:0020039increased bone ossificationincrease 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:0003326MyalgiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001370Rheumatoid arthritisMP:0011882enlarged duodenumincreased size of the portion of the small intestine that extends from the pyloris to the junction with the jejunum
HP:0200039PustuleMP:0013745abnormal eyelid margin morphologyany structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium
HP:0200037Skin vesicleMP:0011094embryonic lethality before implantation, complete penetrancedeath of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)
Disease ID 318
Disease pyoderma gangrenosum
Case(Waiting for update.)