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:4804
Name:Granulomatous Disease, Chronic, X-Linked
Definition:
Alternative IDs:OMIM:306400
ParentIDs:MESH:D006105
TreeNumbers:C15.378.553.774.535/C564417 |C16.320.322.233/C564417 |C20.673.774.535/C564417
Synonyms:CGD |Chronic Granulomatous Disease, Atypical |CHRONIC GRANULOMATOUS DISEASE, ATYPICAL, INCLUDED |Chronic Granulomatous Disease, X-Linked |CHRONIC GRANULOMATOUS DISEASE, X-LINKED CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, INCLUDED |Cytochr
Slim Mappings:Blood disease|Genetic disease (inborn)|Immune system disease
Reference: MedGen: C564417
MeSH: C564417
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:0003553Cellulitis due to immunodeficiency
5 HP:0003206Decreased activity of NADPH oxidase
6 HP:0003514Deficiency or absence of cytochrome b(-245)
7 HP:0007417Discoid lupus erythematosus
8 HP:0000976Eczematoid dermatitis
9 HP:0002955Granulomatosis
10 HP:0001400Hepatic abscesses due to immunodeficiency
11 HP:0002240Hepatomegaly
12 HP:0002840Lymphadenitis
13 HP:0002716Lymphadenopathy
14 HP:0003203Negative nitroblue tetrazolium (NBT) reduction test
15 HP:0002755Osteomyelitis due to immunodeficiency
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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