eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| allergic bronchopulmonary aspergillosis | ||||
| Disease ID | 79 |
|---|---|
| Disease | allergic bronchopulmonary aspergillosis |
| Definition | Hypersensitivity reaction (ALLERGIC REACTION) to fungus ASPERGILLUS in an individual with long-standing BRONCHIAL ASTHMA. It is characterized by pulmonary infiltrates, EOSINOPHILIA, elevated serum IMMUNOGLOBULIN E, and skin reactivity to Aspergillus antigen. |
| Synonym | abpa abpa - allergic bronchopulmonary aspergillosis allergic aspergilloses, bronchopulmonary allergic aspergillosis, bronchopulmonary allergic bronchopulm asperg allergic bronchopulmonary aspergilloses allergic bronchopulmonary aspergillosis (abpa) allergic bronchopulmonary aspergillosis (disorder) allergic lung reaction to the fungus aspergillus alrgc brncpul asprglosis asperg allergic bronchopulm asperg bronchopulm allergic aspergilloses, allergic bronchopulmonary aspergilloses, bronchopulmonary allergic aspergillosis, allergic bronchopulmonary aspergillosis, allergic bronchopulmonary [disease/finding] aspergillosis, bronchopulmonary allergic bronchopulm asperg allergic bronchopulmonary allergic aspergilloses bronchopulmonary allergic aspergillosis bronchopulmonary aspergilloses, allergic bronchopulmonary aspergillosis, allergic |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0004031 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:16) C0010674 | cystic fibrosis | 29 C0004096 | asthma | 25 C0006267 | bronchiectasis | 7 C0004096 | bronchial asthma | 3 C0024115 | pulmonary disease | 2 C0024115 | lung disease | 2 C0024117 | chronic obstructive pulmonary disease | 2 C0600260 | obstructive pulmonary disease | 2 C0242379 | lung cancer | 1 C0003873 | rheumatoid arthritis | 1 C0003864 | arthritis | 1 C0034072 | cor pulmonale | 1 C0035204 | respiratory disease | 1 C0002390 | hypersensitivity pneumonitis | 1 C0038218 | acute severe asthma | 1 C0032285 | pneumonitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:27) 1232 | CCR3 | 1.234 | DISEASES 1237 | CCR8 | 1.113 | DISEASES 959 | CD40LG | 1.602 | DISEASES 1118 | CHIT1 | 2.182 | DISEASES 1363 | CPE | 1.599 | DISEASES 1576 | CYP3A4 | 1.164 | DISEASES 1993 | ELAVL2 | 1.26 | DISEASES 5169 | ENPP3 | 2.86 | DISEASES 54206 | ERRFI1 | 1.981 | DISEASES 2318 | FLNC | 9.093 | DISEASES 55733 | HHAT | 5.154 | DISEASES 3119 | HLA-DQB1 | 1.153 | DISEASES 3120 | HLA-DQB2 | 1.266 | DISEASES 3586 | IL10 | 1.817 | DISEASES 4153 | MBL2 | 1.483 | DISEASES 5132 | PDC | 1.214 | DISEASES 55124 | PIWIL2 | 1.236 | DISEASES 26279 | PLA2G2D | 1.571 | DISEASES 8605 | PLA2G4C | 2.306 | DISEASES 5322 | PLA2G5 | 2.203 | DISEASES 83695 | RHNO1 | 1.08 | DISEASES 5269 | SERPINB6 | 1.075 | DISEASES 653509 | SFTPA1 | 1.305 | DISEASES 729238 | SFTPA2 | 3.838 | DISEASES 6441 | SFTPD | 1.983 | DISEASES 387521 | TMEM189 | 3.174 | DISEASES 1861 | TOR1A | 1.631 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 79 |
|---|---|
| Disease | allergic bronchopulmonary aspergillosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0002093 | Respiratory insufficiency HP:0002105 | Hemoptysis HP:0002110 | Bronchiectasis HP:0002097 | Emphysema HP:0011134 | Low-grade fever HP:0012735 | Cough HP:0002715 | Abnormality of the immune system HP:0001824 | Weight loss HP:0002109 | Abnormality of the bronchi HP:0002120 | Cerebral cortical atrophy HP:0002092 | Pulmonary arterial hypertension HP:0001231 | Abnormality of the fingernails HP:0002099 | Asthma HP:0001879 | Abnormality of eosinophils |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0002099 | Asthma | 28 HP:0002110 | Bronchiectasis | 8 HP:0006510 | Chronic obstructive pulmonary disease | 2 HP:0001369 | Arthritis | 1 HP:0001648 | Cor pulmonale | 1 HP:0006516 | Hypersensitivity pneumonitis | 1 HP:0100582 | Nasal polyps | 1 HP:0012653 | Acute severe asthma | 1 HP:0000246 | Sinus inflammation | 1 HP:0012735 | Coughing | 1 HP:0001370 | Rheumatoid arthritis | 1 HP:0002202 | Pleural effusion | 1 |
| Disease ID | 79 |
|---|---|
| Disease | allergic bronchopulmonary aspergillosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:18) C2364133 | infection C2240374 | eosinophilia C2073625 | pleural effusion C1827192 | allergic fungal sinusitis C0878544 | cardiomyopathy C0746982 | obstructive disease C0342269 | steroid-induced diabetes C0340076 | pulmonary eosinophilia C0333040 | fungus ball C0276651 | aspergilloma C0238132 | bronchopleural fistula C0235896 | pulmonary infiltration C0149781 | spontaneous pneumothorax C0149711 | hilar adenopathy C0022521 | kartagener's syndrome C0010674 | cystic fibrosis C0006267 | bronchiectasis C0004096 | asthma |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0010674 | cystic fibrosis | 21 C0004096 | asthma | 13 C0006267 | bronchiectasis | 2 C0276651 | aspergilloma | 2 C0032227 | pleural effusion | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs5743836 | 18275280 | 54106 | TLR9 | umls:C0004031 | BeFree | Susceptibility to allergic bronchopulmonary aspergillosis was associated with allele C on T-1237C (TLR9) (OR, 2.49; P =. | 0.005362824 | 2008 | TLR9 | 3 | 52226766 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002715 | Abnormality of the immune system | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0002109 | Abnormality of the bronchi | MP:0004751 | increased length of allograft survival | compared to controls, a greater length of time that transplanted tissue, in which the donor and recipient are genetically similar (same species) but not genetically identical, retains function and/or remains alive |
| HP:0001879 | Abnormality of eosinophils | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002099 | Asthma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002097 | Emphysema | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002110 | Bronchiectasis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002715 | Abnormality of the immune system | MP:0014125 | decreased amylin secretion | reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a |
| HP:0001879 | Abnormality of eosinophils | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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) |
| HP:0002109 | Abnormality of the bronchi | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 79 |
|---|---|
| Disease | allergic bronchopulmonary aspergillosis |
| Case | (Waiting for update.) |