CGD5
MCID: GRN065
MIFTS: 23

Granulomatous Disease, Chronic, Autosomal Recessive, 5 (CGD5)

Categories: Blood diseases, Bone diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Granulomatous Disease, Chronic, Autosomal Recessive, 5

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, 5:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, 5 57 73
Granulomatous Disease, Chronic, Due to Cybc1 Deficiency 57 73
Cgd5 57 73
Chronic Granulomatous Disease 5, Autosomal Recessive 57
Autosomal Recessive Chronic Granulomatous Disease 5 6

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in the first or second decade
invasive infections such as sepsis (in some patients)
bone marrow transplant is curative


HPO:

31
granulomatous disease, chronic, autosomal recessive, 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Granulomatous Disease, Chronic, Autosomal Recessive, 5

OMIM® : 57 Autosomal recessive chronic granulomatous disease-5 (CGD5) is a primary immunodeficiency characterized by onset of recurrent infections and severe colitis in the first decade of life. Patients often present with features of inflammatory bowel disease and may show granulomata on biopsy. Patients are particularly susceptible to catalase-positive organisms, including Burkholderia cepacia, Legionella, and Candida albicans. Some patients may develop autoinflammatory symptoms, including recurrent fever in the absence of infection, hemolytic anemia, and lymphopenia. Additional features may include short stature, viral infections, cutaneous abscesses, pulmonary infections, and lymphadenitis. Hematopoietic bone marrow transplant is curative. The disorder results from impaired oxidative burst via the NAPDH oxidative complex in macrophages and neutrophils (summary by Arnadottir et al., 2018 and Thomas et al., 2019). For a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; 306400). (618935) (Updated 05-Mar-2021)

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, 5, is also known as granulomatous disease, chronic, due to cybc1 deficiency. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, 5 is CYBC1 (Cytochrome B-245 Chaperone 1). Affiliated tissues include bone marrow and bone, and related phenotypes are splenomegaly and short stature

UniProtKB/Swiss-Prot : 73 Granulomatous disease, chronic, autosomal recessive, 5: A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. CGD5 is an autosomal recessive form characterized by onset of recurrent infections and severe colitis in the first decade of life. Clinical manifestations include increased susceptibility to catalase-positive organisms, features of inflammatory bowel disease, lymphopenia, lymphadenitis, and autoinflammatory symptoms in some patients.

Related Diseases for Granulomatous Disease, Chronic, Autosomal Recessive, 5

Symptoms & Phenotypes for Granulomatous Disease, Chronic, Autosomal Recessive, 5

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 5:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 short stature 31 very rare (1%) HP:0004322
3 fever 31 very rare (1%) HP:0001945
4 pulmonary fibrosis 31 very rare (1%) HP:0002206
5 hemolytic anemia 31 very rare (1%) HP:0001878
6 nephrotic syndrome 31 very rare (1%) HP:0000100
7 lymphopenia 31 very rare (1%) HP:0001888
8 recurrent pneumonia 31 very rare (1%) HP:0006532
9 eczema 31 very rare (1%) HP:0000964
10 pleural effusion 31 very rare (1%) HP:0002202
11 lymphadenopathy 31 very rare (1%) HP:0002716
12 hepatosplenomegaly 31 very rare (1%) HP:0001433
13 oral ulcer 31 very rare (1%) HP:0000155
14 crohn's disease 31 very rare (1%) HP:0100280
15 rheumatoid factor positive 31 very rare (1%) HP:0002923
16 onychomycosis 31 very rare (1%) HP:0012203
17 acute pancreatitis 31 very rare (1%) HP:0001735
18 ulcerative colitis 31 very rare (1%) HP:0100279
19 lymphadenitis 31 very rare (1%) HP:0002840
20 perianal abscess 31 very rare (1%) HP:0009789
21 granuloma 31 very rare (1%) HP:0032252
22 anal fissure 31 very rare (1%) HP:0012390
23 impaired oxidative burst 31 very rare (1%) HP:0003203
24 recurrent tonsillitis 31 very rare (1%) HP:0011110

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Respiratory:
recurrent respiratory infections

Immunology:
fever
lymphopenia
recurrent infections
lymphadenitis
elevated inflammatory markers
more
Head And Neck Ears:
otitis media

Respiratory Lung:
interstitial fibrosis

Hematology:
hemolytic anemia (in some patients)

Growth Height:
short stature

Skin Nails Hair Skin:
acne
eczema
skin infections

Respiratory Larynx:
tonsillitis

Abdomen Gastrointestinal:
granulomatous colitis
inflammatory bowel disease
anal fissures
anal abscess

Head And Neck Mouth:
oral infections

Clinical features from OMIM®:

618935 (Updated 05-Mar-2021)

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Recessive, 5

Search Clinical Trials , NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Recessive, 5

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Recessive, 5

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Recessive, 5

MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, 5:

40
Bone Marrow, Bone

Publications for Granulomatous Disease, Chronic, Autosomal Recessive, 5

Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, 5:

# Title Authors PMID Year
1
EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease. 6 57
30312704 2019
2
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. 57 6
30361506 2018
3
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 6 57
28600779 2017

Variations for Granulomatous Disease, Chronic, Autosomal Recessive, 5

ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYBC1 NM_001033046.4(CYBC1):c.127G>A (p.Asp43Asn) SNV Pathogenic 932314 17:80405456-80405456 17:82447580-82447580
2 CYBC1 NM_001033046.4(CYBC1):c.6C>G (p.Tyr2Ter) SNV Pathogenic 932315 17:80407125-80407125 17:82449249-82449249

Expression for Granulomatous Disease, Chronic, Autosomal Recessive, 5

Search GEO for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Recessive, 5.

Pathways for Granulomatous Disease, Chronic, Autosomal Recessive, 5

GO Terms for Granulomatous Disease, Chronic, Autosomal Recessive, 5

Sources for Granulomatous Disease, Chronic, Autosomal Recessive, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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