eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| chronic granulomatous disease | ||||
| Disease ID | 152 |
|---|---|
| Disease | chronic granulomatous disease |
| Definition | A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern. |
| Synonym | cgd cgd - chronic granulomatous disease chronic disease granulomatous chronic granulomatous disease (disorder) chronic granulomatous disease, nos chronic granulomatous diseases congenital dysphagocytosis congenital dysphagocytosis (disorder) granulomatous chronic disease granulomatous dis chronic granulomatous disease, chronic granulomatous disease, chronic [disease/finding] granulomatous diseases, chronic |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0018203 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:36) C0004030 | aspergillosis | 6 C0032285 | pneumonia | 2 C0026691 | kawasaki disease | 2 C0026946 | fungal infections | 2 C0024205 | lymphadenitis | 2 C0029443 | osteomyelitis | 2 C0026946 | fungal infection | 2 C0017920 | g6pd deficiency | 1 C0021831 | bowel disease | 1 C0004623 | bacterial infection | 1 C0024141 | systemic lupus erythematosus | 1 C0026946 | fungal disease | 1 C0155867 | aspergillus pneumonia | 1 C0010346 | crohn's disease | 1 C0010692 | cystitis | 1 C0024115 | lung disease | 1 C0024291 | hemophagocytic lymphohistiocytosis | 1 C1145670 | respiratory failure | 1 C0010346 | crohn disease | 1 C0241910 | autoimmune hepatitis | 1 C0009324 | ulcerative colitis | 1 C0270629 | epidural abscess | 1 C0032305 | pneumocystis | 1 C0009319 | colitis | 1 C0004623 | bacterial infections | 1 C0001768 | agammaglobulinemia | 1 C0001144 | acne vulgaris | 1 C0221026 | x-linked agammaglobulinemia | 1 C0021390 | inflammatory bowel disease | 1 C0175702 | williams-beuren syndrome | 1 C0009447 | common variable immunodeficiency | 1 C0032305 | pneumocystis pneumonia | 1 C0037274 | dermatoses | 1 C0004153 | atherosclerosis | 1 C0206062 | interstitial lung disease | 1 C0019158 | hepatitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:24) 100 | ADA | 1.508 | DISEASES 55054 | ATG16L1 | 1.093 | DISEASES 1536 | CYBB | 6.942 | DISEASES 50506 | DUOX2 | 4.875 | DISEASES 53827 | FXYD5 | 1.05 | DISEASES 10249 | GLYAT | 2.371 | DISEASES 81502 | HM13 | 1.874 | DISEASES 4153 | MBL2 | 1.763 | DISEASES 4519 | MT-CYB | 5.227 | DISEASES 4688 | NCF2 | 6.604 | DISEASES 4689 | NCF4 | 5.067 | DISEASES 84504 | NKX6-2 | 2.108 | DISEASES 58484 | NLRC4 | 1.061 | DISEASES 10811 | NOXA1 | 2.694 | DISEASES 124056 | NOXO1 | 2.437 | DISEASES 5879 | RAC1 | 1.641 | DISEASES 5906 | RAP1A | 1.338 | DISEASES 286205 | SCAI | 1.657 | DISEASES 51091 | SEPSECS | 1.365 | DISEASES 6444 | SGCD | 1.323 | DISEASES 54106 | TLR9 | 1.567 | DISEASES 7124 | TNF | 1.091 | DISEASES 91544 | UBXN11 | 3.178 | DISEASES 7504 | XK | 2.965 | DISEASES |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 152 |
|---|---|
| Disease | chronic granulomatous disease |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:22) HP:0012733 | Macule HP:0000246 | Sinusitis HP:0006510 | Chronic obstructive pulmonary disease HP:0002575 | Tracheoesophageal fistula HP:0001287 | Meningitis HP:0100806 | Sepsis HP:0100523 | Liver abscess HP:0002205 | Recurrent respiratory infections HP:0100533 | Inflammatory abnormality of the eye HP:0100721 | Mediastinal lymphadenopathy HP:0001874 | Abnormality of neutrophils HP:0200042 | Skin ulcer HP:0002024 | Malabsorption HP:0000388 | Otitis media HP:0000230 | Gingivitis HP:0001945 | Fever HP:0002240 | Hepatomegaly HP:0002021 | Pyloric stenosis HP:0001744 | Splenomegaly HP:0000992 | Cutaneous photosensitivity HP:0001034 | Hypermelanotic macule HP:0000964 | Eczema |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:17) HP:0002090 | Pneumonia | 3 HP:0002721 | Immunodeficiency | 2 HP:0002754 | Bone infection | 2 HP:0030049 | Brain abscess | 2 HP:0100523 | Hepatic abscess | 2 HP:0002840 | Lymphadenitis | 2 HP:0100280 | Morbus Crohn | 1 HP:0004432 | Agammaglobulinaemia | 1 HP:0001061 | Acne | 1 HP:0002621 | Atherosclerosis | 1 HP:0100279 | Ulcerative colitis | 1 HP:0006530 | Interstitial lung disease | 1 HP:0012115 | Liver inflammation | 1 HP:0002878 | Respiratory failure | 1 HP:0002719 | infections, recurrent | 1 HP:0002583 | Colitis | 1 HP:0002725 | Systemic lupus erythematosus | 1 |
| Disease ID | 152 |
|---|---|
| Disease | chronic granulomatous disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:88) C2707258 | infections C2697310 | sarcoidosis C2364133 | infection C2350529 | pulmonary aspergillosis C1963266 | uveitis C1963088 | cystitis C1963084 | colitis C1961102 | acute lymphoblastic leukemia C1621958 | glioblastoma multiforme C1402302 | retinal lesion C1090821 | sepsis C0948600 | organ failure C0876973 | pulmonary infections C0876973 | pulmonary infection C0876973 | lung infection C0851886 | pneumocystis carinii infection C0851807 | aspergillus infections C0752303 | urological manifestations C0744421 | immune complex glomerulonephritis C0586989 | varicella-zoster virus infection C0521173 | granulomatosis C0424755 | fever C0398595 | myeloperoxidase deficiency C0341212 | gastrointestinal fistulae C0339946 | pneumonic tularemia C0282677 | burkholderia infection C0282488 | interstitial cystitis C0276653 | invasive pulmonary aspergillosis C0276119 | q-fever pneumonia C0268382 | renal amyloidosis C0267841 | acalculous cholecystitis C0243026 | systemic infections C0235329 | small bowel obstruction C0221505 | brain lesions C0162651 | gastric outlet obstruction C0155867 | aspergillus pneumonia C0155448 | petrositis C0085438 | fungal meningitis C0043541 | mucormycosis C0042075 | urinary tract disorders C0041956 | ureteric obstruction C0041956 | ureteral obstruction C0040147 | thyroiditis C0037274 | skin disorders C0037274 | dermatosis C0036690 | septicemia C0034088 | pulmonary insufficiency C0033581 | prostatitis C0032302 | mycoplasma pneumoniae pneumonia C0032285 | pneumonia C0031154 | peritonitis C0031111 | periostitis C0031106 | prepubertal periodontitis C0030486 | paraplegia C0029443 | osteomyelitis C0029166 | oral manifestations C0028242 | nocardiosis C0028242 | nocardia infections C0028242 | nocardia infection C0026946 | fungal infections C0026946 | fungal infection C0024291 | hemophagocytic syndrome C0024205 | lymphadenitis C0023895 | hepatic pathology C0023885 | liver abscesses C0023885 | liver abscess C0023885 | hepatic abscesses C0023885 | hepatic abscess C0023290 | visceral leishmaniasis C0023241 | legionella pneumonia C0021051 | immunodeficiency C0020807 | pulmonary hemosiderosis C0017661 | iga nephropathy C0017658 | glomerulonephritis C0017178 | gastrointestinal disease C0014866 | esophageal narrowing C0014852 | esophageal dysfunction C0014335 | enteritis C0014118 | endocarditis C0013604 | oedema C0009450 | infectious diseases C0006285 | bronchopneumonia C0006105 | brain abscess C0005695 | tumor of the bladder C0004623 | bacterial infections C0004610 | bacteremia C0004030 | aspergillosis C0002726 | amyloidosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:17) C0021311 | infections | 12 C0004030 | aspergillosis | 8 C0009450 | infection | 7 C0276653 | invasive pulmonary aspergillosis | 4 C2350529 | pulmonary aspergillosis | 4 C0032285 | pneumonia | 3 C0024205 | lymphadenitis | 2 C0006105 | brain abscess | 2 C0023885 | liver abscess | 2 C0021051 | immunodeficiency | 2 C0026946 | fungal infection | 1 C0009319 | colitis | 1 C0026946 | fungal infections | 1 C0029443 | osteomyelitis | 1 C0155867 | aspergillus pneumonia | 1 C0004623 | bacterial infections | 1 C0010692 | cystitis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs119103274 | 11262407 | 4688 | NCF2 | umls:C0018203 | BeFree | The active N-terminal region of p67phox. Structure at 1.8 A resolution and biochemical characterizations of the A128V mutant implicated in chronic granulomatous disease. | 0.126786047 | 2001 | NCF2 | 1 | 183574605 | G | A |
| rs267606912 | 9070911 | 4688 | NCF2 | umls:C0018203 | BeFree | Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. | 0.126786047 | 1997 | NCF2 | 1 | 183574509 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001874 | Abnormality of neutrophils | 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:0100533 | Inflammatory abnormality of the eye | 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:0000388 | Otitis media | MP:0009873 | abnormal aorta tunica media morphology | any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers |
| HP:0002021 | Pyloric stenosis | MP:0006128 | pulmonary valve stenosis | abnormal narrowing of the pulmonary valve |
| HP:0000992 | Cutaneous photosensitivity | MP:0001202 | skin photosensitivity | abnormally heightened reactivity of the skin to sunlight |
| HP:0006510 | Chronic obstructive pulmonary disease | MP:0010441 | total anomalous pulmonary venous connection | abnormal development and attachment of all four pulmonary veins that normally attach to the left atrium of the heart, resulting in complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the s |
| HP:0002575 | Tracheoesophageal fistula | MP:0003321 | tracheoesophageal fistula | an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
Mapped by homologous gene(Total Items:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006510 | Chronic obstructive pulmonary disease | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100806 | Sepsis | MP:0011708 | decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000992 | Cutaneous photosensitivity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100721 | Mediastinal lymphadenopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001287 | Meningitis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002021 | Pyloric stenosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000964 | Eczema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000246 | Sinusitis | MP:0020186 | altered susceptibility to bacterial infection | a 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:0001874 | Abnormality of neutrophils | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100533 | Inflammatory abnormality of the eye | 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:0000388 | Otitis media | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001034 | Hypermelanotic macule | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002575 | Tracheoesophageal fistula | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000230 | Gingivitis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 152 |
|---|---|
| Disease | chronic granulomatous disease |
| Case | (Waiting for update.) |