MCID: GRN051
MIFTS: 32

Granulomatous Disease, Chronic, X-Linked

Categories: Genetic diseases

Aliases & Classifications for Granulomatous Disease, Chronic, X-Linked

MalaCards integrated aliases for Granulomatous Disease, Chronic, X-Linked:

Name: Granulomatous Disease, Chronic, X-Linked 57 75 40
Chronic Granulomatous Disease, X-Linked 57 29 13 6
Cgd 57 75
Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked 57
Chronic Granulomatous Disease Cytochrome B-Negative X-Linked 75
Chronic Granulomatous Disease Cytochrome-B-Negative X-Linked 75
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked 75
Chronic Granulomatous Disease Cytochrome-B-Positive X-Linked 75
Cdgx 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
onset usually in first decade
four types of cgd with basically identical clinical phenotypes
x-linked recessive cytochrome b-negative cgd
autosomal recessive cytochrome b-positive cgd, type i
autosomal recessive cytochrome b-positive cgd, type ii
autosomal recessive cytochrome b-negative cgd
'variant' form of x-linked cgd retains residual cytochrome b(-245)


HPO:

32
granulomatous disease, chronic, x-linked:
Onset and clinical course juvenile onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Granulomatous Disease, Chronic, X-Linked

OMIM : 57 Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). (306400)

MalaCards based summary : Granulomatous Disease, Chronic, X-Linked, also known as chronic granulomatous disease, x-linked, is related to chronic granulomatous disease. An important gene associated with Granulomatous Disease, Chronic, X-Linked is CYBB (Cytochrome B-245 Beta Chain). The drugs Niacin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, testes and skin, and related phenotypes are eczematoid dermatitis and splenomegaly

UniProtKB/Swiss-Prot : 75 Granulomatous disease, chronic, X-linked: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.

Related Diseases for Granulomatous Disease, Chronic, X-Linked

Diseases related to Granulomatous Disease, Chronic, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chronic granulomatous disease 11.5

Symptoms & Phenotypes for Granulomatous Disease, Chronic, X-Linked

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Immunology:
lymphadenopathy
lymphadenitis
bacterial infections, recurrent
fungal infections, recurrent
absence of bactericidal oxidative 'respiratory burst' in phagocytes
more
Laboratory Abnormalities:
decreased activity of nadph oxidase
deficiency or absence of cytochrome b(-245)
negative nitroblue tetrazolium (nbt) reduction test
deficiency or absence of p91-phox protein
deficiency or absence of p22-phox protein

Respiratory Lung:
pneumonia due to immunodeficiency

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Abdomen Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

Skeletal:
osteomyelitis due to immunodeficiency

Skin Nails Hair Skin:
eczematoid dermatitis
dermatitis, infectious, due to immunodeficiency impetigo
discoid lupus in carriers or adults with mild disease

Abdomen Gastrointestinal:
perirectal abscesses due to immunodeficiency


Clinical features from OMIM:

306400

Human phenotypes related to Granulomatous Disease, Chronic, X-Linked:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 eczematoid dermatitis 32 HP:0000976
2 splenomegaly 32 HP:0001744
3 hepatomegaly 32 HP:0002240
4 lymphadenopathy 32 HP:0002716
5 absence of bactericidal oxidative respiratory burst in phagocytes 32 HP:0002723
6 recurrent aspergillus infections 32 HP:0002724
7 recurrent staphylococcus aureus infections 32 HP:0002726
8 recurrent e. coli infections 32 HP:0002740
9 recurrent serratia marcescens infections 32 HP:0002741
10 recurrent klebsiella infections 32 HP:0002742
11 osteomyelitis 32 HP:0002754
12 lymphadenitis 32 HP:0002840
13 recurrent burkholderia cepacia infections 32 HP:0002842
14 granulomatosis 32 HP:0002955
15 negative nitroblue tetrazolium reduction test 32 HP:0003203
16 decreased activity of nadph oxidase 32 HP:0003206
17 deficiency or absence of cytochrome b(-245) 32 HP:0003514
18 rectal abscess 32 HP:0005224
19 recurrent bacterial skin infections 32 HP:0005406
20 recurrent pneumonia 32 HP:0006532
21 discoid lupus rash 32 HP:0007417
22 liver abscess 32 HP:0100523
23 cellulitis 32 HP:0100658

Drugs & Therapeutics for Granulomatous Disease, Chronic, X-Linked

Drugs for Granulomatous Disease, Chronic, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
2
Nicotinamide Approved, Investigational, Nutraceutical Phase 4 98-92-0 936
3 Anti-Infective Agents Phase 4
4 Antiviral Agents Phase 4
5 Interferon-gamma Phase 4
6 interferons Phase 4
7 Nicotinic Acids Phase 4
8 Vitamin B3 Nutraceutical Phase 4
9
alemtuzumab Approved, Investigational Phase 2 216503-57-0
10
Busulfan Approved, Investigational Phase 2,Early Phase 1 55-98-1 2478
11
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
12
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
13 Alkylating Agents Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15 Antirheumatic Agents Phase 2
16 Immunosuppressive Agents Phase 2
17 Tin Fluorides Phase 2

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4 IFN-gamma
2 Gene Therapy for Chronic Granulomatous Disease Unknown status NCT00564759 Phase 1, Phase 2 retroviral SF71-gp91phox transduced CD34+ cells
3 Gene Therapy for X-linked Chronic Granulomatous Disease (CGD) in Children Completed NCT00927134 Phase 1, Phase 2
4 Study of Gene Therapy Using a Lentiviral Vector to Treat X-linked Chronic Granulomatous Disease Recruiting NCT02234934 Phase 1, Phase 2
5 Gene Therapy for X-linked Chronic Granulomatous Disease Recruiting NCT02757911 Phase 1, Phase 2
6 Gene Therapy for X-linked Chronic Granulomatous Disease (X-CGD) Recruiting NCT01855685 Phase 1, Phase 2
7 Gene Therapy for X-CGD Recruiting NCT01906541 Phase 1, Phase 2
8 Gene Therapy for Chronic Granulomatous Disease in Korea Active, not recruiting NCT00778882 Phase 1, Phase 2 VM106
9 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
10 Lentiviral Gene Therapy for X-Linked Chronic Granulomatous Disease (X-CGD) Withdrawn NCT01381003 Phase 1, Phase 2
11 Gene Therapy for Chronic Granulomatous Disease Terminated NCT00394316 Early Phase 1 Phagocyte Oxidase Subunit Transduced CD34 Hematopoietic Stem Cells

Search NIH Clinical Center for Granulomatous Disease, Chronic, X-Linked

Genetic Tests for Granulomatous Disease, Chronic, X-Linked

Genetic tests related to Granulomatous Disease, Chronic, X-Linked:

# Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, X-Linked 29 CYBB

Anatomical Context for Granulomatous Disease, Chronic, X-Linked

MalaCards organs/tissues related to Granulomatous Disease, Chronic, X-Linked:

41
Neutrophil, Testes, Skin, Liver

Publications for Granulomatous Disease, Chronic, X-Linked

Variations for Granulomatous Disease, Chronic, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, X-Linked:

75 (show top 50) (show all 63)
# Symbol AA change Variation ID SNP ID
1 CYBB p.His101Arg VAR_002432 rs137854591
2 CYBB p.Ala156Thr VAR_002433 rs137854590
3 CYBB p.His209Tyr VAR_002434 rs137854587
4 CYBB p.Glu225Val VAR_002435 rs151344494
5 CYBB p.Cys244Ser VAR_002436 rs137854589
6 CYBB p.Cys244Tyr VAR_002437 rs137854589
7 CYBB p.Pro339His VAR_002438 rs151344470
8 CYBB p.Gly389Ala VAR_002439 rs137854586
9 CYBB p.Pro415His VAR_002440 rs137854585
10 CYBB p.Asp500Gly VAR_002441 rs137854593
11 CYBB p.Gly20Arg VAR_007873 rs151344455
12 CYBB p.Arg54Ser VAR_007874 rs151344456
13 CYBB p.Cys59Arg VAR_007875 rs151344457
14 CYBB p.His101Tyr VAR_007876 rs137854594
15 CYBB p.His119Arg VAR_007877 rs151344458
16 CYBB p.His209Gln VAR_007878 rs151344459
17 CYBB p.His222Asn VAR_007880 rs151344460
18 CYBB p.His222Arg VAR_007881 rs151344462
19 CYBB p.His222Tyr VAR_007882 rs151344460
20 CYBB p.Gly223Leu VAR_007883 rs151344463
21 CYBB p.Cys244Arg VAR_007884 rs151344465
22 CYBB p.Glu309Lys VAR_007885 rs151344466
23 CYBB p.Gly322Glu VAR_007886 rs151344467
24 CYBB p.Ile325Phe VAR_007887 rs151344468
25 CYBB p.Ser333Pro VAR_007888 rs151344469
26 CYBB p.Arg356Pro VAR_007889 rs151344471
27 CYBB p.Met405Arg VAR_007890 rs151344472
28 CYBB p.Gly408Glu VAR_007891 rs151344474
29 CYBB p.Gly408Arg VAR_007892 rs151344473
30 CYBB p.Pro415Leu VAR_007893 rs137854585
31 CYBB p.Ser422Pro VAR_007894 rs151344475
32 CYBB p.Trp453Arg VAR_007895 rs151344476
33 CYBB p.Trp516Cys VAR_007896 rs151344477
34 CYBB p.Val534Asp VAR_007897 rs151344478
35 CYBB p.Cys537Arg VAR_007898 rs151344454
36 CYBB p.Ala57Glu VAR_008845 rs151344481
37 CYBB p.His303Asn VAR_016880 rs137854595
38 CYBB p.Pro304Arg VAR_016881 rs137854596
39 CYBB p.Tyr41Asp VAR_025613 rs151344453
40 CYBB p.Arg54Met VAR_025614 rs151344479
41 CYBB p.Ala55Asp VAR_025615 rs151344480
42 CYBB p.His209Arg VAR_025616 rs151344482
43 CYBB p.Ala224Gly VAR_025617 rs151344483
44 CYBB p.His338Tyr VAR_025618 rs151344484
45 CYBB p.Ser344Phe VAR_025619 rs151344485
46 CYBB p.Gly389Glu VAR_025621 rs137854586
47 CYBB p.Leu420Pro VAR_025622 rs151344486
48 CYBB p.Trp516Arg VAR_025623 rs151344487
49 CYBB p.Trp18Cys VAR_047264
50 CYBB p.Cys59Trp VAR_047266 rs151344488

ClinVar genetic disease variations for Granulomatous Disease, Chronic, X-Linked:

6
(show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYBB CYBB, IVS1, T-C, +6 single nucleotide variant Pathogenic
2 CYBB NM_000397.3(CYBB): c.90_92delCCGinsGGT (p.Tyr30Ter) indel Pathogenic rs387906486 GRCh37 Chromosome X, 37641385: 37641387
3 CYBB NM_000397.3(CYBB): c.90_92delCCGinsGGT (p.Tyr30Ter) indel Pathogenic rs387906486 GRCh38 Chromosome X, 37782132: 37782134
4 CYBB NM_000397.3(CYBB): c.625C> T (p.His209Tyr) single nucleotide variant Pathogenic rs137854587 GRCh37 Chromosome X, 37655345: 37655345
5 CYBB NM_000397.3(CYBB): c.625C> T (p.His209Tyr) single nucleotide variant Pathogenic rs137854587 GRCh38 Chromosome X, 37796092: 37796092
6 CYBB NM_000397.3(CYBB): c.217C> T (p.Arg73Ter) single nucleotide variant Pathogenic rs137854588 GRCh37 Chromosome X, 37642818: 37642818
7 CYBB NM_000397.3(CYBB): c.217C> T (p.Arg73Ter) single nucleotide variant Pathogenic rs137854588 GRCh38 Chromosome X, 37783565: 37783565
8 CYBB NM_000397.3(CYBB): c.911C> G (p.Pro304Arg) single nucleotide variant Pathogenic rs137854596 GRCh37 Chromosome X, 37663143: 37663143
9 CYBB NM_000397.3(CYBB): c.911C> G (p.Pro304Arg) single nucleotide variant Pathogenic rs137854596 GRCh38 Chromosome X, 37803890: 37803890
10 CYBB CYBB, EX12DEL deletion Pathogenic
11 CYBB NM_000397.3(CYBB): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs137854592 GRCh37 Chromosome X, 37658209: 37658209
12 CYBB NM_000397.3(CYBB): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs137854592 GRCh38 Chromosome X, 37798956: 37798956
13 CYBB CYBB, IVS3, G-A, +5 single nucleotide variant Pathogenic
14 CYBB NM_000397.3(CYBB): c.1499A> G (p.Asp500Gly) single nucleotide variant Pathogenic rs137854593 GRCh37 Chromosome X, 37668857: 37668857
15 CYBB NM_000397.3(CYBB): c.1499A> G (p.Asp500Gly) single nucleotide variant Pathogenic rs137854593 GRCh38 Chromosome X, 37809604: 37809604
16 CYBB NM_000397.3(CYBB): c.252G> A (p.Ala84=) single nucleotide variant Pathogenic rs387906485 GRCh37 Chromosome X, 37642853: 37642853
17 CYBB NM_000397.3(CYBB): c.252G> A (p.Ala84=) single nucleotide variant Pathogenic rs387906485 GRCh38 Chromosome X, 37783600: 37783600
18 CYBB CYBB, IN5, L1 INS insertion Pathogenic
19 CYBB CYBB, 252G-A single nucleotide variant Pathogenic
20 CYBB CYBB, IVS5, G-T, +978 single nucleotide variant Pathogenic
21 CYBB CYBB, EX4, L1 INS insertion Pathogenic
22 CYBB NM_000397.3(CYBB): c.1140dupG (p.Lys381Glufs) duplication Likely pathogenic rs193922445 GRCh37 Chromosome X, 37663372: 37663372
23 CYBB NM_000397.3(CYBB): c.1140dupG (p.Lys381Glufs) duplication Likely pathogenic rs193922445 GRCh38 Chromosome X, 37804119: 37804119
24 CYBB NM_000397.3(CYBB): c.15delT (p.Val6Terfs) deletion Likely pathogenic rs193922446 GRCh37 Chromosome X, 37639345: 37639345
25 CYBB NM_000397.3(CYBB): c.15delT (p.Val6Terfs) deletion Likely pathogenic rs193922446 GRCh38 Chromosome X, 37780092: 37780092
26 CYBB NM_000397.3(CYBB): c.389G> C (p.Arg130Pro) single nucleotide variant Likely pathogenic rs193922448 GRCh37 Chromosome X, 37652969: 37652969
27 CYBB NM_000397.3(CYBB): c.389G> C (p.Arg130Pro) single nucleotide variant Likely pathogenic rs193922448 GRCh38 Chromosome X, 37793716: 37793716
28 CYBB NM_000397.3(CYBB): c.607G> T (p.Glu203Ter) single nucleotide variant Likely pathogenic rs193922449 GRCh37 Chromosome X, 37655327: 37655327
29 CYBB NM_000397.3(CYBB): c.607G> T (p.Glu203Ter) single nucleotide variant Likely pathogenic rs193922449 GRCh38 Chromosome X, 37796074: 37796074
30 CYBB NM_000397.3(CYBB): c.1609T> C (p.Cys537Arg) single nucleotide variant Pathogenic rs151344454 GRCh37 Chromosome X, 37670066: 37670066
31 CYBB NM_000397.3(CYBB): c.1609T> C (p.Cys537Arg) single nucleotide variant Pathogenic rs151344454 GRCh38 Chromosome X, 37810813: 37810813
32 CYBB NM_000397.3(CYBB): c.66C> A (p.Asn22Lys) single nucleotide variant Likely pathogenic rs193922450 GRCh37 Chromosome X, 37641361: 37641361
33 CYBB NM_000397.3(CYBB): c.66C> A (p.Asn22Lys) single nucleotide variant Likely pathogenic rs193922450 GRCh38 Chromosome X, 37782108: 37782108
34 CYBB NM_000397.3(CYBB): c.1002G> A (p.Lys334=) single nucleotide variant Benign rs2228117 GRCh38 Chromosome X, 37803981: 37803981
35 CYBB NM_000397.3(CYBB): c.1002G> A (p.Lys334=) single nucleotide variant Benign rs2228117 GRCh37 Chromosome X, 37663234: 37663234
36 CYBB NM_000397.3(CYBB): c.80_83delTCTG (p.Val27Glyfs) deletion Pathogenic GRCh38 Chromosome X, 37782122: 37782125
37 CYBB NM_000397.3(CYBB): c.80_83delTCTG (p.Val27Glyfs) deletion Pathogenic GRCh37 Chromosome X, 37641375: 37641378
38 CYBB NM_000397.3(CYBB): c.37_45+2delTTTGTCATTGT deletion Likely pathogenic GRCh37 Chromosome X, 37639367: 37639377
39 CYBB NM_000397.3(CYBB): c.37_45+2delTTTGTCATTGT deletion Likely pathogenic GRCh38 Chromosome X, 37780114: 37780124
40 CYBB NM_000397.3(CYBB): c.1702G> A (p.Glu568Lys) single nucleotide variant Pathogenic GRCh38 Chromosome X, 37810906: 37810906
41 CYBB NM_000397.3(CYBB): c.1702G> A (p.Glu568Lys) single nucleotide variant Pathogenic GRCh37 Chromosome X, 37670159: 37670159
42 CYBB NM_000397.3(CYBB): c.1159G> A (p.Val387Ile) single nucleotide variant Benign rs145620748 GRCh37 Chromosome X, 37664266: 37664266
43 CYBB NM_000397.3(CYBB): c.1159G> A (p.Val387Ile) single nucleotide variant Benign rs145620748 GRCh38 Chromosome X, 37805013: 37805013
44 CYBB NM_000397.3(CYBB): c.1462-7C> A single nucleotide variant Uncertain significance rs371707791 GRCh38 Chromosome X, 37809560: 37809560
45 CYBB NM_000397.3(CYBB): c.1462-7C> A single nucleotide variant Uncertain significance rs371707791 GRCh37 Chromosome X, 37668813: 37668813
46 CYBB NM_000397.3(CYBB): c.686G> A (p.Arg229His) single nucleotide variant Benign rs139670417 GRCh37 Chromosome X, 37658219: 37658219
47 CYBB NM_000397.3(CYBB): c.686G> A (p.Arg229His) single nucleotide variant Benign rs139670417 GRCh38 Chromosome X, 37798966: 37798966
48 CYBB NM_000397.3(CYBB): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 37658314: 37658314
49 CYBB NM_000397.3(CYBB): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 37799061: 37799061
50 CYBB NM_000397.3(CYBB): c.1315-1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 37665639: 37665639

Expression for Granulomatous Disease, Chronic, X-Linked

Search GEO for disease gene expression data for Granulomatous Disease, Chronic, X-Linked.

Pathways for Granulomatous Disease, Chronic, X-Linked

GO Terms for Granulomatous Disease, Chronic, X-Linked

Sources for Granulomatous Disease, Chronic, X-Linked

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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