MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:5260
Name:Granulomatous Disease, Chronic
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.
Alternative IDs:DO:DOID:3265|OMIM:306400
ParentIDs:MESH:D010585|MESH:D040181
TreeNumbers:C15.378.553.774.535 |C16.320.322.233 |C20.673.774.535
Synonyms:Autosomal Recessive Chronic Granulomatous Disease |CDGX |CGD |Chronic Granulomatous Disease |Chronic Granulomatous Disease, Atypical |CHRONIC GRANULOMATOUS DISEASE, ATYPICAL, INCLUDED |Chronic Granulomatous Diseases |Chronic Granulomatous Disease, X Linked |Chro
Slim Mappings:Blood disease|Genetic disease (inborn)|Immune system disease
Reference: MedGen: D006105
MeSH: D006105
OMIM: 306400;
MSeqDR LSDB:  
Genes: CYBB;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0003621Juvenile onset
3 HP:0002723Absence of bactericidal oxidative respiratory burst in phagocytes
4 HP:0100658Cellulitis
5 HP:0003206Decreased activity of NADPH oxidase
6 HP:0003514Deficiency or absence of cytochrome b(-245)
7 HP:0007417Discoid lupus rash
8 HP:0000976Eczematoid dermatitis
9 HP:0002955Granulomatosis
10 HP:0002240Hepatomegaly
11 HP:0100523Liver abscess
12 HP:0002840Lymphadenitis
13 HP:0002716Lymphadenopathy
14 HP:0003203Negative nitroblue tetrazolium reduction test
15 HP:0002754Osteomyelitis
16 HP:0005224Rectal abscess
17 HP:0002724Recurrent Aspergillus infections
18 HP:0005406Recurrent bacterial skin infections
19 HP:0002842Recurrent Burkholderia cepacia infections
20 HP:0002740Recurrent E. coli infections
21 HP:0002742Recurrent Klebsiella infections
22 HP:0006532Recurrent pneumonia
23 HP:0002741Recurrent Serratia marcescens infections
24 HP:0002726Recurrent Staphylococcus aureus infections
25 HP:0001744Splenomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000397.3(CYBB):c.15delT (p.Val6Terfs)1536CYBBLikely pathogenic193922446RCV000029625; NMedGen:C1844376,OMIM:306400X3763934537639345-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.37_45+2delTTTGTCATTGT1536CYBBLikely pathogenic1556464116RCV000640726; NMedGen:C1844376,OMIM:306400X3763936737639377-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.45+6T>C1536CYBBPathogenic-1RCV000011686; NMedGen:C1844376,OMIM:306400X3763938137639381OMIM Allelic Variant:300481.0020
NM_000397.3(CYBB):c.66C>T (p.Asn22=)1536CYBBLikely benign193922450RCV000029632; NMedGen:C1844376,OMIM:306400X3764136137641361-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.66C>A (p.Asn22Lys)1536CYBBLikely pathogenic193922450RCV000190516; NMedGen:C1844376,OMIM:306400X3764136137641361-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.80_83delTCTG (p.Val27Glyfs)1536CYBBPathogenic1556464554RCV000589300; NMedGen:C1844376,OMIM:306400X3764137537641378-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.90_92delCCGinsGGT (p.Tyr30Ter)1536CYBBPathogenic387906486RCV000011687; NMedGen:C1844376,OMIM:306400X3764138537641387OMIM Allelic Variant:300481.0021C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.217C>T (p.Arg73Ter)1536CYBBPathogenic137854588RCV000011670; RCV000254770; NMedGen:C1844376,OMIM:306400; MedGen:CN517202X3764281837642818OMIM Allelic Variant:300481.0004C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.252G>A (p.Ala84=)1536CYBBPathogenic387906485RCV000011680; RCV000482302; NMedGen:C1844376,OMIM:306400; MedGen:CN517202X3764285337642853OMIM Allelic Variant:300481.0013,OMIM Allelic Variant:300481.0015C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.338-13C>T1536CYBBUncertain significance193922447RCV000029627; NMedGen:C1844376,OMIM:306400X3765290537652905-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.389G>C (p.Arg130Pro)1536CYBBConflicting interpretations of pathogenicity193922448RCV000029628; NMedGen:C1844376,OMIM:306400X3765296937652969-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.455A>G (p.Tyr152Cys)1536CYBBUncertain significance-1RCV000696492; NMedGen:C1844376,OMIM:306400X3765303537653035-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.607G>T (p.Glu203Ter)1536CYBBLikely pathogenic193922449RCV000029630; NMedGen:C1844376,OMIM:306400X3765532737655327-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.625C>T (p.His209Tyr)1536CYBBPathogenic137854587RCV000011669; RCV000059265; NMedGen:C1844376,OMIM:306400; MedGen:CN517202X3765534537655345OMIM Allelic Variant:300481.0003,UniProtKB (protein):P04839#VAR_002434,UniProtKB (variants):VAR_002434C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.649A>C (p.Ile217Leu)1536CYBBUncertain significance-1RCV000706099; NMedGen:C1844376,OMIM:306400X3765536937655369-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.654C>A (p.Gly218=)1536CYBBBenign/Likely benign35080474RCV000029631; RCV000596479; NMedGen:C1844376,OMIM:306400; MedGen:CN169374X3765537437655374-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.676C>T (p.Arg226Ter)1536CYBBPathogenic137854592RCV000011676; RCV000523721; NMedGen:C1844376,OMIM:306400; MedGen:CN517202X3765820937658209OMIM Allelic Variant:300481.0009C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.686G>A (p.Arg229His)1536CYBBBenign139670417RCV000640727; NMedGen:C1844376,OMIM:306400X3765821937658219-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.742dupA (p.Ile248Asnfs)1536CYBBPathogenic886041194RCV000690581; RCV000400140; NMedGen:C1844376,OMIM:306400; MedGen:CN517202X3765827537658275-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.781C>T (p.Gln261Ter)1536CYBBPathogenic1556469197RCV000640724; NMedGen:C1844376,OMIM:306400X3765831437658314-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.805A>G (p.Thr269Ala)1536CYBBUncertain significance-1RCV000701848; NMedGen:C1844376,OMIM:306400X3766050937660509-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.911C>G (p.Pro304Arg)1536CYBBPathogenic137854596RCV000011674; RCV000059280; NMedGen:C1844376,OMIM:306400; MedGen:CN517202X3766314337663143OMIM Allelic Variant:300481.0017,UniProtKB (protein):P04839#VAR_016881,UniProtKB (variants):VAR_016881C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.969A>G (p.Gln323=)1536CYBBUncertain significance-1RCV000767950; RCV000767950; NMedGen:C1970859,OMIM:300645, Orphanet:ORPHA319623; MedGen:C1844376,OMIM:306400X3766320137663201-
NM_000397.3(CYBB):c.997T>C (p.Ser333Pro)1536CYBBUncertain significance151344469RCV000640722; RCV000059285; NMedGen:C1844376,OMIM:306400; MedGen:CN517202X3766322937663229UniProtKB (protein):P04839#VAR_007888,UniProtKB (variants):VAR_007888C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1002G>A (p.Lys334=)1536CYBBBenign2228117RCV000560547; NMedGen:C1844376,OMIM:306400X3766323437663234-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1011G>A (p.Trp337Ter)1536CYBBPathogenic-1RCV000695304; NMedGen:C1844376,OMIM:306400X3766324337663243-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1085C>T (p.Thr362Ile)1536CYBBLikely pathogenic-1RCV000780206; NMedGen:C1844376,OMIM:306400X3766331737663317-
NM_000397.3(CYBB):c.1090G>C (p.Gly364Arg)1536CYBBBenign141756032RCV000536594; RCV000059230; RCV000595175; NMedGen:C1844376,OMIM:306400; MedGen:CN517202; MedGen:CN169374X3766332237663322UniProtKB (protein):P04839#VAR_025620,UniProtKB (variants):VAR_025620C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1140dupG (p.Lys381Glufs)1536CYBBLikely pathogenic193922445RCV000029623; NMedGen:C1844376,OMIM:306400X3766337237663372-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1159G>A (p.Val387Ile)1536CYBBBenign145620748RCV000640725; NMedGen:C1844376,OMIM:306400X3766426637664266-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1237dup (p.Val413Glyfs)1536CYBBLikely pathogenic-1RCV000761230; NMedGen:C1844376,OMIM:306400X3766434437664345-
NM_000397.3(CYBB):c.1314+19C>T1536CYBBBenign34834015RCV000029624; RCV000246530; NMedGen:C1844376,OMIM:306400; MedGen:CN169374X3766444037664440-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1315-1G>A1536CYBBLikely pathogenic1556471620RCV000640720; NMedGen:C1844376,OMIM:306400X3766563937665639-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1462-7C>A1536CYBBUncertain significance371707791RCV000640723; NMedGen:C1844376,OMIM:306400X3766881337668813-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1466_1467delAT (p.Asn489Thrfs)1536CYBBPathogenic-1RCV000696039; NMedGen:C1844376,OMIM:306400X3766882437668825-C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1499A>G (p.Asp500Gly)1536CYBBPathogenic137854593RCV000011678; RCV000059242; NMedGen:C1844376,OMIM:306400; MedGen:CN517202X3766885737668857OMIM Allelic Variant:300481.0011,UniProtKB (protein):P04839#VAR_002441,UniProtKB (variants):VAR_002441C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1551T>A (p.Asp517Glu)1536CYBBBenign/Likely benign151344452RCV000640728; RCV000059246; RCV000781320; NMedGen:C1844376,OMIM:306400; MedGen:CN517202; MedGen:CN169374X3766890937668909UniProtKB (protein):P04839#VAR_025624,UniProtKB (variants):VAR_025624C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1601T>A (p.Val534Asp)1536CYBBUncertain significance151344478RCV000029626; RCV000059247; NMedGen:C1844376,OMIM:306400; MedGen:CN517202X3767005837670058UniProtKB (protein):P04839#VAR_007897,UniProtKB (variants):VAR_007897C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1609T>C (p.Cys537Arg)1536CYBBPathogenic151344454RCV000585928; RCV000059248; NMedGen:C1844376,OMIM:306400; MedGen:CN517202X3767006637670066UniProtKB (protein):P04839#VAR_007898,UniProtKB (variants):VAR_007898C1844376 306400 Chronic granulomatous disease, X-linked;
NM_000397.3(CYBB):c.1702G>A (p.Glu568Lys)1536CYBBPathogenic1556473119RCV000640721; NMedGen:C1844376,OMIM:306400X3767015937670159-C1844376 306400 Chronic granulomatous disease, X-linked;
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