PedAM

Pediatric Disease Annotations & Medicines


	chronic granulomatous disease

Disease ID	82
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	ORPHANET:379
OMIM	OMIM:306400
DOID	DOID:3265
UMLS	C0018203
MeSH	D006105
SNOMED-CT	SNOMEDCT_US_2016_09_01:387759001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:37) C0004030 \| aspergillosis \| 9 C0032285 \| pneumonia \| 3 C0024205 \| lymphadenitis \| 2 C0026691 \| kawasaki disease \| 2 C0026946 \| fungal infection \| 2 C0029443 \| osteomyelitis \| 2 C0026946 \| fungal infections \| 2 C0004623 \| bacterial infection \| 1 C0241910 \| autoimmune hepatitis \| 1 C0019158 \| hepatitis \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0017920 \| g6pd deficiency \| 1 C0004153 \| atherosclerosis \| 1 C0004623 \| bacterial infections \| 1 C0221026 \| x-linked agammaglobulinemia \| 1 C0021831 \| bowel disease \| 1 C0001768 \| agammaglobulinemia \| 1 C0009447 \| common variable immunodeficiency \| 1 C0001144 \| acne vulgaris \| 1 C0026946 \| mycosis \| 1 C0206062 \| interstitial lung disease \| 1 C0270629 \| epidural abscess \| 1 C0021390 \| inflammatory bowel disease \| 1 C0010346 \| crohn's disease \| 1 C0010346 \| crohn disease \| 1 C0009319 \| colitis \| 1 C0010692 \| cystitis \| 1 C0024115 \| lung disease \| 1 C0009324 \| ulcerative colitis \| 1 C0024291 \| hemophagocytic lymphohistiocytosis \| 1 C0026946 \| fungal disease \| 1 C0037274 \| dermatoses \| 1 C0175702 \| williams-beuren syndrome \| 1 C0155867 \| aspergillus pneumonia \| 1 C0032305 \| pneumocystis pneumonia \| 1 C0032305 \| pneumocystis \| 1 C1145670 \| respiratory failure \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) G6PD \| 2539 \| CTD_human CYBA \| 1535 \| CTD_human;ORPHANET;GHR;UniProtKB-KW CYBB \| 1536 \| CTD_human;ORPHANET;GHR;UniProtKB-KW NCF2 \| 4688 \| ORPHANET;GHR;UniProtKB-KW NCF1 \| 653361 \| ORPHANET;GHR;UniProtKB-KW NCF4 \| 4689 \| ORPHANET;GHR;UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1536 \| CYBB \| infer 653361 \| NCF1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:50) 1666 \| DECR1 \| DISEASES 2639 \| GCDH \| DISEASES 4353 \| MPO \| DISEASES 1440 \| CSF3 \| DISEASES 51655 \| RASD1 \| DISEASES 6404 \| SELPLG \| DISEASES 1610 \| DAO \| DISEASES 3458 \| IFNG \| DISEASES 847 \| CAT \| DISEASES 5880 \| RAC2 \| DISEASES 4005 \| LMO2 \| DISEASES 6653 \| SORL1 \| DISEASES 1535 \| CYBA \| DISEASES 3553 \| IL1B \| DISEASES 3004 \| GZMM \| DISEASES 80725 \| SRCIN1 \| DISEASES 6717 \| SRI \| DISEASES 939 \| CD27 \| DISEASES 3930 \| LBR \| DISEASES 653361 \| NCF1 \| DISEASES 26585 \| GREM1 \| DISEASES 51523 \| CXXC5 \| DISEASES 5897 \| RAG2 \| DISEASES 171389 \| NLRP6 \| DISEASES 947 \| CD34 \| DISEASES 53905 \| DUOX1 \| DISEASES 6444 \| SGCD \| DISEASES 10249 \| GLYAT \| DISEASES 10811 \| NOXA1 \| DISEASES 53827 \| FXYD5 \| DISEASES 5879 \| RAC1 \| DISEASES 5906 \| RAP1A \| DISEASES 54106 \| TLR9 \| DISEASES 58484 \| NLRC4 \| DISEASES 4519 \| MT-CYB \| DISEASES 4688 \| NCF2 \| DISEASES 84504 \| NKX6-2 \| DISEASES 100 \| ADA \| DISEASES 286205 \| SCAI \| DISEASES 4153 \| MBL2 \| DISEASES 91544 \| UBXN11 \| DISEASES 1536 \| CYBB \| DISEASES 7504 \| XK \| DISEASES 51091 \| SEPSECS \| DISEASES 50506 \| DUOX2 \| DISEASES 55054 \| ATG16L1 \| DISEASES 4689 \| NCF4 \| DISEASES 124056 \| NOXO1 \| DISEASES 81502 \| HM13 \| DISEASES 7124 \| TNF \| DISEASES
Locus	Symbol \| Locus(Total Locus:5) CYBA \| 16q24.2 NCF4 \| 22q12.3 NCF1 \| 7q11.23 NCF2 \| 1q25.3 CYBB \| Xp21.1-p11.4

Disease ID	82
Disease	chronic granulomatous disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:22) HP:0012733 \| Macule HP:0100523 \| Liver abscess HP:0001874 \| Abnormality of neutrophils HP:0002021 \| Pyloric stenosis HP:0000964 \| Eczema HP:0000992 \| Cutaneous photosensitivity HP:0001945 \| Fever HP:0001744 \| Splenomegaly HP:0100533 \| Inflammatory abnormality of the eye HP:0000230 \| Gingivitis HP:0200042 \| Skin ulcer HP:0000246 \| Sinusitis HP:0002240 \| Hepatomegaly HP:0100806 \| Sepsis HP:0002024 \| Malabsorption HP:0100721 \| Mediastinal lymphadenopathy HP:0002205 \| Recurrent respiratory infections HP:0006510 \| Chronic obstructive pulmonary disease HP:0002575 \| Tracheoesophageal fistula HP:0001287 \| Meningitis HP:0000388 \| Otitis media HP:0001034 \| Hypermelanotic macule
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:18) HP:0002721 \| Immunodeficiency \| 3 HP:0002090 \| Pneumonia \| 3 HP:0030049 \| Brain abscess \| 2 HP:0002840 \| Lymphadenitis \| 2 HP:0100523 \| Hepatic abscess \| 2 HP:0002754 \| Bone infection \| 2 HP:0002719 \| infections, recurrent \| 2 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0001061 \| Acne \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0002583 \| Colitis \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0100279 \| Ulcerative colitis \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0006530 \| Interstitial lung disease \| 1 HP:0004432 \| Agammaglobulinaemia \| 1 HP:0005387 \| Combined immunodeficiency \| 1

Disease ID	82
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:16) C0021311 \| infections \| 15 C0004030 \| aspergillosis \| 9 C0009450 \| infection \| 7 C0276653 \| invasive pulmonary aspergillosis \| 4 C2350529 \| pulmonary aspergillosis \| 4 C0032285 \| pneumonia \| 3 C0021051 \| immunodeficiency \| 3 C0024205 \| lymphadenitis \| 2 C0006105 \| brain abscess \| 2 C0026946 \| fungal infection \| 2 C0023885 \| liver abscess \| 2 C0010692 \| cystitis \| 1 C0029443 \| osteomyelitis \| 1 C0009319 \| colitis \| 1 C0004623 \| bacterial infections \| 1 C0155867 \| aspergillus pneumonia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
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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)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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