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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   microscopic polyangiitis
  

Disease ID 464
Disease microscopic polyangiitis
Definition
A systemic necrotizing vasculitis that typically affects the small and medium-sized muscular arteries. In some cases, however, microscopic vessels are also affected (e.g., in the kidneys), a condition that has been called microscopic polyarteritis or polyangiitis; this disorder is felt to be more closely associated with Wegener granulomatosis than to classic polyarteritis nodosa.
Synonym
microscopic polyangiitides
microscopic polyangiitis [disease/finding]
microscopic polyarteritis
microscopic polyarteritis nodosa
microscopic polyarteritis nodosa (disorder)
polyangiitides, microscopic
polyangiitis, microscopic
polyarteritis nodosa microscopic
Orphanet
ICD10
UMLS
C2347126
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:37)
C0034069  |  pulmonary fibrosis  |  8
C0042384  |  vasculitis  |  6
C0017658  |  glomerulonephritis  |  3
C0023890  |  cirrhosis  |  2
C0008728  |  churg-strauss syndrome  |  2
C0019158  |  hepatitis  |  2
C0008312  |  biliary cirrhosis  |  2
C0013990  |  emphysema  |  2
C0008312  |  primary biliary cirrhosis  |  2
C0007785  |  cerebral infarct  |  1
C0002880  |  autoimmune hemolytic anemia  |  1
C0040053  |  thrombus  |  1
C1800706  |  idiopathic pulmonary fibrosis  |  1
C0034065  |  pulmonary embolism  |  1
C0003864  |  arthritis  |  1
C0039483  |  giant cell arteritis  |  1
C0024143  |  lupus nephritis  |  1
C0042769  |  virus infection  |  1
C0032285  |  pneumonitis  |  1
C0002878  |  hemolytic anemia  |  1
C0042373  |  vascular disease  |  1
C0003504  |  aortic valve insufficiency  |  1
C0010051  |  coronary aneurysm  |  1
C0027697  |  nephritis  |  1
C0037116  |  silicosis  |  1
C0026934  |  mycoplasma  |  1
C0442874  |  neuropathy  |  1
C0007785  |  cerebral infarction  |  1
C0152025  |  polyneuropathy  |  1
C0036421  |  systemic sclerosis  |  1
C0028866  |  oculomotor nerve palsy  |  1
C0019196  |  hepatitis c  |  1
C0241910  |  autoimmune hepatitis  |  1
C0920350  |  autoimmune thyroiditis  |  1
C0003873  |  rheumatoid arthritis  |  1
C0014121  |  bacterial endocarditis  |  1
C0019196  |  hepatitis c infection  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
3123  |  HLA-DRB1  |  CIPHER
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 464
Disease microscopic polyangiitis
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:37)
HP:0002239  |  Gastrointestinal hemorrhage
HP:0001733  |  Pancreatitis
HP:0000246  |  Sinusitis
HP:0008046  |  Abnormality of the retinal vasculature
HP:0002027  |  Abdominal pain
HP:0001482  |  Subcutaneous nodule
HP:0002960  |  Autoimmunity
HP:0002586  |  Peritonitis
HP:0012649  |  Increased inflammatory response
HP:0000083  |  Renal insufficiency
HP:0001635  |  Congestive heart failure
HP:0002829  |  Arthralgia
HP:0003401  |  Paresthesia
HP:0010783  |  Erythema
HP:0000965  |  Cutis marmorata
HP:0003326  |  Myalgia
HP:0100820  |  Glomerulopathy
HP:0002014  |  Diarrhea
HP:0009830  |  Peripheral neuropathy
HP:0100520  |  Oliguria
HP:0100534  |  Episcleritis
HP:0002017  |  Nausea and vomiting
HP:0200042  |  Skin ulcer
HP:0000790  |  Hematuria
HP:0002105  |  Hemoptysis
HP:0002633  |  Vasculitis
HP:0000554  |  Uveitis
HP:0004936  |  Venous thrombosis
HP:0011675  |  Arrhythmia
HP:0001945  |  Fever
HP:0001933  |  Subcutaneous hemorrhage
HP:0001701  |  Pericarditis
HP:0000988  |  Skin rash
HP:0005244  |  Gastrointestinal infarctions
HP:0000421  |  Epistaxis
HP:0001369  |  Arthritis
HP:0100758  |  Gangrene
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:24)
Disease ID 464
Disease microscopic polyangiitis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:27)
C2697391  |  rheumatoid arthritis
C2364133  |  infection
C2186530  |  kidney disease
C2072946  |  aortic aneurysm
C2046121  |  aortic dissection
C1963274  |  vasculitis
C1801950  |  g syndrome
C1739395  |  takotsubo cardiomyopathy
C0878544  |  cardiomyopathy
C0748159  |  pulmonary involvement
C0600260  |  obstructive lung disease
C0267953  |  pancreatic necrosis
C0155002  |  sudden visual loss
C0151295  |  mononeuritis multiplex
C0041349  |  tubulointerstitial nephritis
C0039445  |  hereditary hemorrhagic telangiectasia
C0034069  |  pulmonary fibrosis
C0032453  |  relapsing polychondritis
C0030167  |  pachymeningitis
C0022658  |  renal disease
C0019080  |  hemorrhage
C0017661  |  iga glomerulonephritis
C0017658  |  glomerulonephritis
C0017658  |  glomerulonephritides
C0007785  |  cerebral infarctions
C0006902  |  capillaritis
C0002940  |  aneurysms
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:8)
C0034069  |  pulmonary fibrosis  |  8
C0042384  |  vasculitis  |  4
C0017658  |  glomerulonephritis  |  3
C0748159  |  pulmonary involvement  |  2
C0009450  |  infection  |  2
C0019080  |  hemorrhage  |  2
C0002940  |  aneurysms  |  1
C0003873  |  rheumatoid arthritis  |  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:6)
HP ID HP Name MP ID MP Name Annotation
HP:0001933Subcutaneous hemorrhageMP:0011437glomerulus hemorrhagebleeding in the renal glomerulus
HP:0002239Gastrointestinal hemorrhageMP:0012305umbilical cord hemorrhagebleeding into or from the umbilical cord
HP:0008046Abnormality of the retinal vasculatureMP:0004686decreased length of long bonesreduced end-to-end length of the several elongated bones of the extremities
HP:0000083Renal insufficiencyMP:0003335exocrine pancreatic insufficiencyinadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients
HP:0002017Nausea and vomitingMP:0010426abnormal heart and great artery attachmentany anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta
HP:0001635Congestive heart failureMP:0011925abnormal heart echocardiography featureany anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features
Mapped by homologous gene(Total Items:35)
HP ID HP Name MP ID MP Name Annotation
HP:0001945FeverMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0008046Abnormality of the retinal vasculatureMP:0014059abnormal photoreceptor connecting cilium morphologyany structural anomaly of the nonmotile primary cilium that has a 9+0 microtubule array and forms the portion of the axoneme traversing the boundary between the retinal photoreceptor inner and outer segments
HP:0011675ArrhythmiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0010783ErythemaMP:0013781abnormal mammary gland luminal epithelium morphologyany structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti
HP:0001369ArthritisMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0009830Peripheral neuropathyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0100534EpiscleritisMP:0011080increased macrophage apoptosisgreater incidence of cell death in macrophages
HP:0002633VasculitisMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001482Subcutaneous noduleMP:0013542abnormal submandibular gland branching morphogenesis
HP:0003401ParesthesiaMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0002960AutoimmunityMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0100820GlomerulopathyMP:0014169decreased brown adipose tissue massdecreased physical bulk or volume of brown adipose tissue
HP:0001701PericarditisMP:0011405tubulointerstitial nephritisdiffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease
HP:0002239Gastrointestinal hemorrhageMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0002586PeritonitisMP:0011085postnatal lethality, complete penetrancepremature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)
HP:0002014DiarrheaMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002017Nausea and vomitingMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002105HemoptysisMP:0011098embryonic lethality during organogenesis, complete penetrancedeath of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0000790HematuriaMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002829ArthralgiaMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000554UveitisMP:0013501increased fibroblast apoptosisincrease in the timing or the number of fibroblast cells undergoing programmed cell death
HP:0002027Abdominal painMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0000083Renal insufficiencyMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0200042Skin ulcerMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000246SinusitisMP:0020186altered susceptibility to bacterial infectiona change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria
HP:0005244Gastrointestinal infarctionsMP:0011098embryonic lethality during organogenesis, complete penetrancedeath of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0003326MyalgiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000421EpistaxisMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0004936Venous thrombosisMP:0014166ectopic cranial bonethe appearance of an extra bone structure at an atypical location in or near the cranium
HP:0001635Congestive heart failureMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001733PancreatitisMP:0020134abnormal gallbladder sizean anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile
HP:0001933Subcutaneous hemorrhageMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0100758GangreneMP:0011517hyperoxaluriaabnormally high levels of oxalic acid or oxalates in the urine; many metal ions form insoluble precipitates with oxalate, a prominent example being calcium oxalate, the primary constituent of the most common kind of kidney stones
HP:0000965Cutis marmorataMP:0014179abnormal blood-retinal barrier functionanomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci
HP:0000988Skin rashMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
Disease ID 464
Disease microscopic polyangiitis
Case(Waiting for update.)