Disease #05349 (CGD (granulomatous disease, chronic (CGD)))

Official abbreviation CGD
Name granulomatous disease, chronic (CGD)
OMIM ID -
Inheritance -
Individuals reported having this disease 130
Phenotype entries for this disease 117
Associated with 5 genes C17orf62, CYBA, NCF1, NCF2, NCF4
Associated tissues -
Disease features -
Remarks -


Individuals

130 entries on 2 pages. Showing entries 1 - 100.
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Genes screened

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00138540 - PubMed: Brown - M - - - - 0 - - CGD, DMD, MCLDS - DMD DMD 1 1 Johan den Dunnen
00138541 - PubMed: Brown - M - - - - 0 - - CGD, DMD, MCLDS - DMD DMD 1 1 Johan den Dunnen
00143801 22383943-Pat1 PubMed: Arai 2012 carrier mother M - Japan - - 0 - - CGD - CYBB CYBB 1 1 Johan den Dunnen
00143802 22383943-Pat2 PubMed: Arai 2012 carrier mother M - Japan - - 0 - - CGD - CYBB, DYNLT3 CYBB, DYNLT3 1 1 Johan den Dunnen
00143803 22383943-Pat3 PubMed: Arai 2012 carrier mother M - Japan - - 0 - - CGD reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK CYBB CYBB, DYNLT3, XK 1 1 Johan den Dunnen
00143804 22383943-Pat4 PubMed: Arai 2012 mother not a carrier M - Japan - - 0 - - CGD reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK CYBB CYBB, DYNLT3, XK 1 1 Johan den Dunnen
00143805 22383943-Pat5 PubMed: Arai 2012 carrier mother F - Japan - - 0 - - CGD history of increased susceptibility to infection at the clinical diagnosis CGD; 11y-increased susceptibility to infection, marked reduction in ROS productivity (0.05) CYBB CYBB, DMD, DYNLT3, XK 1 1 Johan den Dunnen
00415357 FamPatA/B PubMed: Arnadottir 2018 2 generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Iceland - - 0 - - CGD see paper; ..., - C17orf62, GCGR 2 2 Johan den Dunnen
00415358 PatC PubMed: Arnadottir 2018 - M - Iceland - - 0 - - CGD see paper; ..., C17orf62 C17orf62 1 1 Johan den Dunnen
00415359 PatD PubMed: Arnadottir 2018 - F - Iceland - - 0 - - CGD see paper; ..., C17orf62 C17orf62 1 1 Johan den Dunnen
00415360 PatE PubMed: Arnadottir 2018 - M - Iceland - - 0 - - CGD see paper; ..., C17orf62 C17orf62 1 1 Johan den Dunnen
00415361 PatF PubMed: Arnadottir 2018 - M - Iceland - - 0 - - CGD see paper; ..., C17orf62 C17orf62 1 1 Johan den Dunnen
00415362 PatG PubMed: Arnadottir 2018 - F - Iceland - - 0 - - CGD see paper; ..., C17orf62 C17orf62 1 1 Johan den Dunnen
00415363 PatH PubMed: Arnadottir 2018 - M - Iceland - - 0 - - CGD see paper; ..., C17orf62 C17orf62 1 1 Johan den Dunnen
00415365 patient PubMed: Matute 2009 2 generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - 0 - - CGD - NCF4 NCF4 2 1 Johan den Dunnen
00415366 FamA PubMed: van de Geer 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - CGD see paper; ..., - NCF4 1 1 Johan den Dunnen
00415367 FamB PubMed: van de Geer 2018 2 generation family, 7 affected (3F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - 0 - - CGD see paper; ..., - NCF4 1 7 Johan den Dunnen
00415368 FamC PubMed: van de Geer 2018 2 generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M - Portugal - - 0 - - CGD see paper; ..., - NCF4 1 2 Johan den Dunnen
00415369 FamD PubMed: van de Geer 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Australia - - 0 - - CGD see paper; ..., - NCF4 2 1 Johan den Dunnen
00415370 FamE PubMed: van de Geer 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Pakistan - - 0 - - CGD see paper; ..., - NCF4 1 1 Johan den Dunnen
00415371 FamF PubMed: van de Geer 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Pakistan - - 0 - - CGD see paper; ..., - NCF4 1 1 Johan den Dunnen
00415372 FamG PubMed: van de Geer 2018 2 generation family, 1 affected/3 unaffected homozygous, unaffected heterozygous carrier parents/relatives M - Colombia - - 0 - - CGD see paper; ..., - NCF4 1 1 Johan den Dunnen
00415373 FamH PubMed: van de Geer 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents F - Argentina - - 0 - - CGD see paper; ..., - NCF4 1 1 Johan den Dunnen
00415374 FamI PubMed: van de Geer 2018 3 generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Kuwait - - 0 - - CGD see paper; ..., - NCF4 1 2 Johan den Dunnen
00415375 FamJ PubMed: van de Geer 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Portugal - - 0 - - CGD see paper; ..., - NCF4 2 1 Johan den Dunnen
00415376 FamK PubMed: van de Geer 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Russia - - 0 - - CGD see paper; ..., - NCF4 1 1 Johan den Dunnen
00415377 FamL PubMed: van de Geer 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents F - Chile - - 0 - - CGD see paper; ..., - NCF4 1 1 Johan den Dunnen
00415378 patient PubMed: Wright 2019 - M - United States - - 0 - - CGD see paper; ..., early onset granulomatous colitis - NCF4 1 1 Johan den Dunnen
00415426 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415427 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415428 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415429 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415430 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415431 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415432 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415433 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415434 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415435 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415436 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415437 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415438 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415439 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415440 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415441 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415442 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415443 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415444 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415445 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415446 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415447 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415448 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415449 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415450 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415451 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415452 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415453 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415454 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415455 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415456 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415457 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415458 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415459 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415460 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415461 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415462 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415463 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415464 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415465 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415466 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415467 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415468 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415469 - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415470 Pat1 PubMed: Noack 2001, Journal: Noack 2001 - F - United States - - 0 - - CGD see paper; ... NCF1 NCF1 2 1 Johan den Dunnen
00415471 Pat2 PubMed: Noack 2001, Journal: Noack 2001 - F - United States Europe - 0 - - CGD see paper; ... NCF1 NCF1 2 1 Johan den Dunnen
00415472 Pat3 PubMed: Noack 2001, Journal: Noack 2001 - M - United States - 02y 0 - - CGD see paper; ... NCF1 NCF1 2 2 Johan den Dunnen
00415473 Pat4 PubMed: Noack 2001, Journal: Noack 2001 - M - United States Hispanic - 0 - - CGD see paper; ... NCF1 NCF1 2 1 Johan den Dunnen
00415474 Pat5 PubMed: Noack 2001, Journal: Noack 2001 - M - United States Hispanic - 0 - - CGD see paper; ... NCF1 NCF1 2 1 Johan den Dunnen
00415475 Pat6 PubMed: Noack 2001, Journal: Noack 2001 - M - United States Pakistan - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
00415477 Fam1 PubMed: Roos 2006, Journal: Roos 2006 - - - - white - 0 - - CGD see paper; ... NCF1 NCF1 2 1 Johan den Dunnen
00415478 Fam2 PubMed: Roos 2006, Journal: Roos 2006 - - - - white - 0 - - CGD see paper; ... NCF1 NCF1 2 1 Johan den Dunnen
00415479 Fam3 PubMed: Roos 2006, Journal: Roos 2006 - - - - white - 0 - - CGD see paper; ... NCF1 NCF1 2 1 Johan den Dunnen
00415480 Fam4 PubMed: Roos 2006, Journal: Roos 2006 - - - Turkey - - 0 - - CGD see paper; ... NCF1 NCF1 2 1 Johan den Dunnen
00415481 Fam5 PubMed: Roos 2006, Journal: Roos 2006 - - - - white - 0 - - CGD see paper; ... NCF1 NCF1 2 1 Johan den Dunnen
00415482 Fam6 PubMed: Roos 2006, Journal: Roos 2006 - - - - - - 0 - - CGD see paper; ... NCF1 NCF1 2 1 Johan den Dunnen
00415483 Fam7 PubMed: Roos 2006, Journal: Roos 2006 - - yes Turkey - - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
00415484 Fam8 PubMed: Roos 2006, Journal: Roos 2006 - - yes Turkey - - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
00415485 Fam9 PubMed: Roos 2006, Journal: Roos 2006 - - yes Israel Dagestan - 0 - - CGD see paper; ... NCF1 NCF1 2 1 Johan den Dunnen
00415486 FamF PubMed: de Boer 2002, Journal: de Boer 2002 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - 0 - - CGD see paper; ..., NCF1 NCF1 1 1 Johan den Dunnen
00415487 FamO PubMed: de Boer 2002, Journal: de Boer 2002 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
00415488 PatSR PubMed: Volpp 1993, Journal: Volpp 1993 - - - United States - - 0 - - CGD - NCF1 NCF1 2 1 Johan den Dunnen
00415489 PatKS PubMed: Volpp 1993, Journal: Volpp 1993 - - - United States - - 0 - - CGD - NCF1 NCF1 1 1 Johan den Dunnen
00415490 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
00415491 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
00415492 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
00415493 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
00415494 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
00415495 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
00415496 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
00415497 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
00415498 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - 0 - - CGD see paper; ... NCF1 NCF1 1 1 Johan den Dunnen
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