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	anti-glomerular basement membrane disease

Disease ID	833
Disease	anti-glomerular basement membrane disease
Definition	combination of pulmonary hemorrhage and glomerulonephritis; known also as the lung purpura glomerulonephritis complex; considered by some to be a form of hypersensitivity reaction.
Synonym	anti gbm - antiglomerular basement membrane disease anti gbm dis anti gbm disease anti glomerular basement membrane dis anti glomerular basement membrane disease anti-gbm disease anti-gbm nephritis with pulmonary haemorrhage anti-gbm nephritis with pulmonary hemorrhage anti-glomerular basement membrane disease [disease/finding] antigbm disease antiglomerular basement membrane disease good pasture syndrome good pastures syndrome good posture syndrome goodpasture disease goodpasture syndrome goodpasture's disease goodpasture's disease (disorder) goodpasture's syndrome goodpasture's syndrome (disorder) goodpastures syndrome goodpastures's syndrome haemorrhagic pneumonia and glomerulonephritis hemorrhagic pneumonia and glomerulonephritis lung purpura with glomerulonephritis lung purpura with nephritis lung purpura with nephritis syndrome pneumorenal syndrome pulmonary haemorrhage with glomerulonephritis pulmonary haemosiderosis with glomerulonephritis pulmonary hemorrhage with glomerulonephritis pulmonary hemosiderosis with glomerulonephritis pulmonary renal syndromes pulmonary-renal syndrome syndrome good pasture syndrome good postures syndrome, goodpasture syndrome, goodpasture's
Orphanet	ORPHANET:375
OMIM	OMIM:233450
DOID	DOID:9808
UMLS	C0403529
MeSH	D019867
SNOMED-CT	SNOMEDCT_US_2016_09_01:236506009;SNOMEDCT_US_2016_09_01:50581000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:31) C0017658 \| glomerulonephritis \| 3 C0035078 \| renal failure \| 2 C0034155 \| thrombotic thrombocytopenic purpura \| 2 C0017665 \| membranous nephropathy \| 2 C0034150 \| purpura \| 2 C0221239 \| rapidly progressive glomerulonephritis \| 2 C0002726 \| amyloidosis \| 1 C0276253 \| cytomegalovirus pneumonia \| 1 C0022660 \| acute renal failure \| 1 C0019158 \| hepatitis \| 1 C0011991 \| diarrhoea \| 1 C0403529 \| pulmonary-renal syndrome \| 1 C0003864 \| arthritis \| 1 C0032285 \| pneumonia \| 1 C0024291 \| hemophagocytic lymphohistiocytosis \| 1 C0878544 \| cardiomyopathy \| 1 C0027726 \| nephrotic syndrome \| 1 C0019061 \| hemolytic uremic syndrome \| 1 C0041296 \| tuberculosis \| 1 C0043092 \| wegener's granulomatosis \| 1 C0042384 \| vasculitis \| 1 C0041408 \| turner's syndrome \| 1 C0019196 \| hepatitis c \| 1 C0033687 \| proteinuria \| 1 C0403529 \| goodpasture's disease \| 1 C0022658 \| nephropathy \| 1 C0041327 \| pulmonary tuberculosis \| 1 C0019196 \| hepatitis c infection \| 1 C0007193 \| dilated cardiomyopathy \| 1 C1567741 \| alport syndrome \| 1 C0003873 \| rheumatoid arthritis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 2212 \| FCGR2A \| CIPHER 2213 \| FCGR2B \| CIPHER 2214 \| FCGR3A \| CIPHER 2215 \| FCGR3B \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 1285 \| COL4A3 \| CIPHER 3119 \| HLA-DQB1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:35) 60 \| ACTB \| 1.597 \| DISEASES 728 \| C5AR1 \| 1.647 \| DISEASES 959 \| CD40LG \| 2.539 \| DISEASES 1043 \| CD52 \| 2.736 \| DISEASES 1184 \| CLCN5 \| 1.642 \| DISEASES 1308 \| COL17A1 \| 1.167 \| DISEASES 1285 \| COL4A3 \| 5.908 \| DISEASES 10087 \| COL4A3BP \| 4.991 \| DISEASES 1286 \| COL4A4 \| 2.834 \| DISEASES 1287 \| COL4A5 \| 3.748 \| DISEASES 1288 \| COL4A6 \| 2.382 \| DISEASES 8029 \| CUBN \| 1.84 \| DISEASES 51428 \| DDX41 \| 2.321 \| DISEASES 2213 \| FCGR2B \| 1.249 \| DISEASES 3052 \| HCCS \| 1.085 \| DISEASES 8337 \| HIST2H2AA3 \| 1.409 \| DISEASES 8338 \| HIST2H2AC \| 1.409 \| DISEASES 3123 \| HLA-DRB1 \| 2.124 \| DISEASES 3456 \| IFNB1 \| 1.495 \| DISEASES 3605 \| IL17A \| 2.644 \| DISEASES 112744 \| IL17F \| 1.263 \| DISEASES 23765 \| IL17RA \| 1.646 \| DISEASES 3683 \| ITGAL \| 1.014 \| DISEASES 9622 \| KLK4 \| 1.528 \| DISEASES 4010 \| LMX1B \| 1.909 \| DISEASES 4153 \| MBL2 \| 2.184 \| DISEASES 4700 \| NDUFA6 \| 1.703 \| DISEASES 4942 \| OAT \| 1.304 \| DISEASES 23556 \| PIGN \| 2.265 \| DISEASES 5901 \| RAN \| 3.844 \| DISEASES 1992 \| SERPINB1 \| 1.905 \| DISEASES 4068 \| SH2D1A \| 1.531 \| DISEASES 6850 \| SYK \| 2.51 \| DISEASES 79679 \| VTCN1 \| 1.931 \| DISEASES 7453 \| WARS \| 1.626 \| DISEASES
Locus	(Waiting for update.)

Disease ID	833
Disease	anti-glomerular basement membrane disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:22) HP:0002094 \| Dyspnea HP:0000541 \| Retinal detachment HP:0002960 \| Autoimmunity HP:0000093 \| Proteinuria HP:0000083 \| Renal insufficiency HP:0002829 \| Arthralgia HP:0100820 \| Glomerulopathy HP:0003326 \| Myalgia HP:0002960 \| Autoimmune condition HP:0002113 \| Pulmonary infiltrates HP:0000979 \| Purpura HP:0000790 \| Hematuria HP:0002105 \| Hemoptysis HP:0001903 \| Anemia HP:0000099 \| Glomerular nephritis HP:0006335 \| Persistence of primary teeth HP:0002633 \| Vasculitis HP:0002093 \| Respiratory insufficiency HP:0001945 \| Fever HP:0012735 \| Cough HP:0001369 \| Arthritis HP:0100749 \| Chest pain
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:19) HP:0000099 \| Glomerular nephritis \| 3 HP:0000083 \| Renal insufficiency \| 2 HP:0000979 \| Purpura \| 2 HP:0002955 \| Granulomatosis \| 2 HP:0012578 \| Membranous glomerulonephritis \| 2 HP:0000093 \| Proteinuria \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0001369 \| Arthritis \| 1 HP:0002633 \| Vasculitis \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0000100 \| Nephrosis \| 1 HP:0005575 \| Hemolytic-uremic syndrome \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0002090 \| Pneumonia \| 1 HP:0000112 \| Nephropathy \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1

Disease ID	833
Disease	anti-glomerular basement membrane disease
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0019080 \| hemorrhage \| 3 C0035078 \| renal failure \| 1 C0009450 \| infection \| 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:0006335	Persistence of primary teeth	MP:0013621	decreased internal diameter of femur	reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0000083	Renal insufficiency	MP:0003335	exocrine pancreatic insufficiency	inadequate 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:0000541	Retinal detachment	MP:0003099	retinal detachment	detachment of the retina from the underlying inner wall of the eye, often from tension of the vitreous; may occur with aging or as a result of trauma

Mapped by homologous gene(Total Items:21)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000790	Hematuria	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002093	Respiratory insufficiency	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002094	Dyspnea	MP:0014185	cerebellum atrophy	acquired 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:0001945	Fever	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000099	Glomerulonephritis	MP:0013743	ciliary body hypoplasia	underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris
HP:0002829	Arthralgia	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002960	Autoimmunity	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0100820	Glomerulopathy	MP:0014169	decreased brown adipose tissue mass	decreased physical bulk or volume of brown adipose tissue
HP:0000979	Purpura	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0001903	Anemia	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000093	Proteinuria	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0000083	Renal insufficiency	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0012735	Cough	MP:0014185	cerebellum atrophy	acquired 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:0000541	Retinal detachment	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001369	Arthritis	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0100749	Chest pain	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002113	Pulmonary infiltrates	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0006335	Persistence of primary teeth	MP:0020080	increased bone mineralization	increase in the rate at which minerals are deposited into bone
HP:0002633	Vasculitis	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0003326	Myalgia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002105	Hemoptysis	MP:0011098	embryonic lethality during organogenesis, complete penetrance	death 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)

Disease ID	833
Disease	anti-glomerular basement membrane disease
Case	(Waiting for update.)