CH
MCID: CYC010
MIFTS: 62

Cyclic Neutropenia (CH)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cyclic Neutropenia

MalaCards integrated aliases for Cyclic Neutropenia:

Name: Cyclic Neutropenia 56 12 74 52 25 58 73 29 43 71
Cyclic Hematopoiesis 56 12 52 15
Cyclical Neutropenia 12 29 6 39
Neutropenia, Cyclic 56 13
Cyclic Hematopoesis 25 71
Neutropenia Cyclic 52 54
Cyclic Agranulocytosis 12
Neutropenia, Periodic 12
Cyclic Haematopoiesis 73
Periodic Neutropenia 25
Cyclic Leucopenia 25
Ch 73

Characteristics:

Orphanet epidemiological data:

58
cyclic neutropenia
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cyclic neutropenia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:5339
OMIM 56 162800
ICD9CM 34 288.02
NCIt 49 C3820
SNOMED-CT 67 191347008
ICD10 32 D70.4
MESH via Orphanet 44 C536227
ICD10 via Orphanet 33 D70
UMLS via Orphanet 72 C0221023
Orphanet 58 ORPHA2686
MedGen 41 C0221023
UMLS 71 C0221023 C3671688

Summaries for Cyclic Neutropenia

Genetics Home Reference : 25 Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation and in fighting infection. The episodes of neutropenia are apparent at birth or soon afterward. For most affected individuals, neutropenia recurs every 21 days and lasts about 3 to 5 days. Neutropenia makes it more difficult for the body to fight off pathogens such as bacteria and viruses, so people with cyclic neutropenia typically develop recurrent infections of the sinuses, respiratory tract, and skin. Additionally, people with this condition often develop open sores (ulcers) in the mouth and colon, inflammation of the throat (pharyngitis) and gums (gingivitis), recurrent fever, or abdominal pain. People with cyclic neutropenia have these health problems only during episodes of neutropenia. At times when their neutrophil levels are normal, they are not at an increased risk of infection and inflammation.

MalaCards based summary : Cyclic Neutropenia, also known as cyclic hematopoiesis, is related to pharyngitis and severe congenital neutropenia autosomal dominant. An important gene associated with Cyclic Neutropenia is ELANE (Elastase, Neutrophil Expressed), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Anti-Infective Agents and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone and monocytes, and related phenotypes are fatigue and sepsis

NIH Rare Diseases : 52 Cyclic neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of neutrophils (a type of white blood cell ) in the body. Neutrophils are instrumental in fighting off infection by surrounding and destroying bacteria that enter the body. Symptoms of cyclic neutropenia may include fever, a general feeling of ill health, and/or sores (ulcers) of the mucous membranes of the mouth. Individuals with low levels of neutrophils (neutropenia) are highly susceptible to recurrent infections. Cyclic neutropenia may be inherited or acquired. Some cases are present at birth and appear to occur randomly for no apparent reason (sporadic). Inherited cases appear to be transmitted in an autosomal dominant fashion and are caused by mutations in the ELANE gene . Treatment includes prompt treatment of associated infections and and therapies aimed at stimulating the production of neutrophils, such as recombinant human granulocyte-colony stimulating factor (rhG-CSF).

OMIM : 56 Cyclic neutropenia is a rare disease characterized by regular 21-day cyclic fluctuations in the number of blood neutrophils, monocytes, eosinophils, lymphocytes, platelets, and reticulocytes. The recurrent severe neutropenia causes patients to experience periodic symptoms of fever, malaise, mucosal ulcers, and, rarely, life-threatening infections. The disease occurs both as a congenital disorder and in an acquired form, with essentially identical phenotypic presentations (summary by Migliaccio et al., 1990). (162800)

UniProtKB/Swiss-Prot : 73 Cyclic haematopoiesis: Autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency.

Wikipedia : 74 Cyclic neutropenia (CyN) is a rare hematologic disorder and form of congenital neutropenia that tends to... more...

Related Diseases for Cyclic Neutropenia

Diseases related to Cyclic Neutropenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 642)
# Related Disease Score Top Affiliating Genes
1 pharyngitis 30.8 TNF IL1B CXCL8 CSF2
2 severe congenital neutropenia autosomal dominant 30.6 GFI1 ELANE
3 bronchitis 30.6 TNF IL1B ELANE CXCL8
4 periodontitis 30.5 TNF IL1B IFNG ELANE CXCL8
5 granulocytopenia 30.5 TNF IL3 CSF3 CSF2
6 stomatitis 30.4 TNF IL1B IFNG CXCL8 CSF3 CSF2
7 familial mediterranean fever 30.4 TNF IL1B CXCL8
8 brucellosis 30.4 TNF IFNG CXCL8
9 lung abscess 30.3 TNF IL1B IFNG
10 tonsillitis 30.3 TNF IL1B IFNG CXCL8
11 haemophilus influenzae 30.3 TNF CXCL8
12 aphthous stomatitis 30.3 TNF IL1B IFNG CXCL8 CSF2
13 pyoderma gangrenosum 30.3 TNF CXCL8 CSF3
14 macular retinal edema 30.3 TNF IL1B CXCL8
15 endometritis 30.2 TNF IL1B CXCL8
16 conjunctivitis 30.2 TNF IFNG CXCL8
17 esophagitis 30.2 TNF IL1B CXCL8
18 aggressive periodontitis 30.2 TNF IL1B CXCL8
19 gingivitis 30.2 TNF IL1B IFNG ELANE CXCL8 CSF3
20 uveitis 30.2 TNF IL1B IFNG CXCL8
21 fasciitis 30.2 TNF IFNG CXCL8
22 allergic contact dermatitis 30.1 TNF IL1B IFNG CXCL8
23 contact dermatitis 30.1 TNF IL1B IFNG CXCL8
24 gastric ulcer 30.1 TNF IL1B CXCL8
25 crohn's disease 30.1 TNF IL1B IFNG CXCL8
26 alpha-1-antitrypsin deficiency 30.1 TNF ELANE CXCL8
27 peritonitis 30.1 TNF IL1B IFNG ELANE CXCL8 CSF3
28 pyoderma 30.1 TNF IL1B CXCL8 CSF3
29 placenta disease 30.1 TNF IL1B CXCL8
30 appendicitis 30.0 TNF IL1B IFNG CXCL8 CSF3
31 toxic shock syndrome 30.0 TNF IL1B IFNG CXCL8
32 dermatitis 30.0 TNF IL1B IFNG CXCL8
33 mucositis 30.0 IL3 IL1B CSF3 CSF2
34 proteasome-associated autoinflammatory syndrome 1 30.0 TNF IL1B IFNG ELANE CXCL8
35 ileus 30.0 TNF IL1B IFNG CSF2
36 toxoplasmosis 29.9 TNF IL1B IFNG
37 allergic hypersensitivity disease 29.9 TNF KITLG IL3 IFNG CXCL8 CSF2
38 hypereosinophilic syndrome 29.9 IL3 IFNG CXCL8 CSF2
39 ulcerative colitis 29.9 TNF IL1B IFNG CXCL8
40 bone resorption disease 29.9 TNF IL1B CSF1
41 idiopathic neutropenia 29.9 TNF IL1B GFI1 CSF3R
42 measles 29.8 TNF IL1B IFNG CXCL8
43 shwachman-diamond syndrome 1 29.8 HAX1 G6PC3 ELANE CSF3R CSF3
44 otitis media 29.8 TNF IL1B IFNG ELANE CXCL8 CSF3
45 thrombocytosis 29.8 KITLG IL3 IL1B CSF3 CSF2
46 candidiasis 29.8 TNF IL1B IFNG CXCL8 CSF2
47 rhinitis 29.7 TNF IL1B IFNG CXCL8 CSF2
48 bacterial infectious disease 29.7 TNF IL3 IL1B IFNG ELANE CXCL8
49 diarrhea 29.6 TNF IL3 IL1B IFNG CXCL8 CSF3
50 lymphoma, non-hodgkin, familial 29.6 TNF KITLG IL3 CSF3 CSF2

Graphical network of the top 20 diseases related to Cyclic Neutropenia:



Diseases related to Cyclic Neutropenia

Symptoms & Phenotypes for Cyclic Neutropenia

Human phenotypes related to Cyclic Neutropenia:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 31 hallmark (90%) Frequent (79-30%) HP:0012378
2 sepsis 58 31 hallmark (90%) Very rare (<4-1%) HP:0100806
3 oral ulcer 58 31 hallmark (90%) Frequent (79-30%) HP:0000155
4 recurrent skin infections 58 31 hallmark (90%) Frequent (79-30%) HP:0001581
5 anemia 31 hallmark (90%) HP:0001903
6 neutropenia 31 hallmark (90%) HP:0001875
7 overlapping toe 31 hallmark (90%) HP:0001845
8 periodontitis 58 31 frequent (33%) Occasional (29-5%) HP:0000704
9 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
10 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
11 lymphadenopathy 58 31 occasional (7.5%) Frequent (79-30%) HP:0002716
12 recurrent respiratory infections 31 occasional (7.5%) HP:0002205
13 carious teeth 31 occasional (7.5%) HP:0000670
14 recurrent aphthous stomatitis 31 occasional (7.5%) HP:0011107
15 abnormal eosinophil morphology 31 occasional (7.5%) HP:0001879
16 cyclic neutropenia 58 31 Very frequent (99-80%) HP:0040289
17 fever 31 HP:0001945
18 sinusitis 58 Very frequent (99-80%)
19 gingivitis 58 Frequent (79-30%)
20 lymphopenia 58 Occasional (29-5%)
21 cellulitis 58 Occasional (29-5%)
22 otitis media 58 Occasional (29-5%)
23 abnormality of the mouth 31 HP:0000153
24 headache 58 Very frequent (99-80%)
25 bone pain 58 Very frequent (99-80%)
26 respiratory tract infection 58 Frequent (79-30%)
27 tonsillitis 58 Frequent (79-30%)
28 peritonitis 58 Very rare (<4-1%)
29 cervical lymphadenopathy 58 Frequent (79-30%)
30 recurrent fever 58 Frequent (79-30%)
31 tooth abscess 58 Frequent (79-30%)
32 atrophy of alveolar ridges 58 Occasional (29-5%)
33 enterocolitis 58 Very rare (<4-1%)
34 perianal abscess 58 Occasional (29-5%)
35 pharyngitis 58 Frequent (79-30%)
36 severe infection 58 Very rare (<4-1%)
37 premature loss of permanent teeth 58 Occasional (29-5%)
38 bacteremia 58 Very rare (<4-1%)
39 periodic fever 58 Frequent (79-30%)
40 opportunistic infection 58 Occasional (29-5%)
41 decreased eosinophil count 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Heme:
cyclic neutropenia

Misc:
15 to 35-day cyclic fluctuations in formed elements of blood
recurring fever and malaise
occasional life-threatening infections

Mouth:
mucosal ulcers

Clinical features from OMIM:

162800

MGI Mouse Phenotypes related to Cyclic Neutropenia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 AP3B1 CSF1 CSF2 CSF3R GFI1 HAX1
2 hematopoietic system MP:0005397 10.13 AP3B1 CSF1 CSF2 CSF3 CSF3R ELANE
3 immune system MP:0005387 10.03 AP3B1 CSF1 CSF2 CSF3 CSF3R ELANE
4 endocrine/exocrine gland MP:0005379 9.97 CSF1 CSF2 G6PC3 GFI1 HAX1 IFNG
5 craniofacial MP:0005382 9.91 AP3B1 CSF1 CSF2 IFNG IL1B KITLG
6 integument MP:0010771 9.61 AP3B1 CSF1 CSF2 CSF3 ELANE IFNG
7 mortality/aging MP:0010768 9.47 AP3B1 CSF1 CSF2 CSF3R ELANE G6PC3

Drugs & Therapeutics for Cyclic Neutropenia

Drugs for Cyclic Neutropenia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents Phase 1, Phase 2
2 Antiviral Agents Phase 1, Phase 2
3 Plerixafor octahydrochloride Phase 1, Phase 2
4 Anti-HIV Agents Phase 1, Phase 2
5 Anti-Retroviral Agents Phase 1, Phase 2
6
Nitrous oxide Approved, Vet_approved 10024-97-2 948
7 Anti-Bacterial Agents
8 Anesthetics
9 Acidophilus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I Study of Mozobil (TM) in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1, Phase 2 Mozobil (TM)
2 Investigation of Dental Health in Children With Neutrophil Defects: A Clinical Study Unknown status NCT03069079
3 Characterisation of the Salivary and Faecal Microbiome in Patients With Recurrent Aphthous Stomatitis Before and After Treatment With Probiotics Unknown status NCT02976922

Search NIH Clinical Center for Cyclic Neutropenia

Cochrane evidence based reviews: cyclic neutropenia

Genetic Tests for Cyclic Neutropenia

Genetic tests related to Cyclic Neutropenia:

# Genetic test Affiliating Genes
1 Cyclical Neutropenia 29 ELANE
2 Cyclic Neutropenia 29

Anatomical Context for Cyclic Neutropenia

MalaCards organs/tissues related to Cyclic Neutropenia:

40
Neutrophil, Bone, Monocytes, Bone Marrow, Skin, Colon, Myeloid

Publications for Cyclic Neutropenia

Articles related to Cyclic Neutropenia:

(show top 50) (show all 484)
# Title Authors PMID Year
1
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 6 56 61
10581030 1999
2
Hematopoietic progenitors in cyclic neutropenia: effect of granulocyte colony-stimulating factor in vivo. 61 54 56
1692489 1990
3
Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. 56 54
12897784 2003
4
ELANE-Related Neutropenia 61 6
20301705 2002
5
Hereditary cyclic neutropenia in the male members of a Chinese family with inverted Y chromosome. 56 61
10971405 2000
6
Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. 56 61
8989458 1996
7
A case report of familial cyclic neutropenia. 56 61
1282277 1992
8
Treatment of cyclic neutropenia with granulocyte colony-stimulating factor. 61 56
2469956 1989
9
Human cyclic neutropenia transferred by allogeneic bone marrow grafting. 56 61
6753968 1982
10
Human cyclic neutropenia: clinical review and long-term follow-up of patients. 61 56
7453561 1981
11
Canine cyclic neutropenia. A stem cell defect. 56 61
4591036 1974
12
Studies of neutrophil production and turnover in grey collie dogs with cyclic neutropenia. 61 56
5054471 1972
13
Cyclic hematopoiesis: the mechanism of cyclic neutropenia in grey collie dogs. 61 56
5054472 1972
14
[Cell kinetics of granulopoiesis and of the neutrophil system in a case oc cyclic neutropenia]. 56 61
4986188 1970
15
Familial cyclical neutropenia. 61 56
6050865 1967
16
Cyclic hormonogenesis in gray collie dogs: interactions of hematopoietic and endocrine systems. 56
3026784 1987
17
Canine cyclic haematopoiesis: marrow transplantation between littermates. 56
127610 1975
18
[Considerations on a family of granulopenics]. 56
13532427 1958
19
Neutrophil elastase-processing defect in cyclic hematopoietic dogs. 61 54
19941936 2010
20
Ela2 mutations and clinical manifestations in familial congenital neutropenia. 61 54
19415009 2009
21
[Cyclic neutropenia: a de novo case and treatment with G-CSF]. 54 61
19268636 2009
22
Genetic and molecular diagnosis of severe congenital neutropenia. 61 54
19057199 2009
23
The effect of recombinant granulocyte colony-stimulating factor on oral and periodontal manifestations in a patient with cyclic neutropenia: a case report. 61 54
20339570 2009
24
Severe congenital neutropenia and the unfolded protein response. 61 54
18043239 2008
25
Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. 54 61
17761833 2007
26
Neutrophil elastase converts human immature dendritic cells into transforming growth factor-beta1-secreting cells and reduces allostimulatory ability. 61 54
17690184 2007
27
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. 61 54
17436313 2007
28
Neutrophil elastase in cyclic and severe congenital neutropenia. 61 54
17053055 2007
29
Neutrophil elastase is associated with serglycin on its way to lysosomes in U937 cells. 54 61
17617393 2007
30
An adult dog with cyclic neutropenia treated by lentivirus- mediated delivery of granulocyte colony-stimulating factor. 61 54
16610934 2006
31
Sustained elevation of neutrophils in rats induced by lentivirus-mediated G-CSF delivery. 54 61
16041689 2005
32
[Cyclic neutropenia with anti-NA2 antibodies and treatment with recombinant granulocyte colony-stimulating factor]. 61 54
16045884 2005
33
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. 54 61
14962902 2004
34
Hereditary neutropenia: dogs explain human neutrophil elastase mutations. 54 61
15059607 2004
35
Treatment of canine cyclic neutropenia by lentivirus-mediated G-CSF delivery. 54 61
12750178 2003
36
Role of neutrophil elastase in bone marrow failure syndromes: molecular genetic revival of the chalone hypothesis. 54 61
12483111 2003
37
Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis. 54 61
12384420 2002
38
Malignant myeloid transformation in congenital forms of neutropenia. 54 61
12489493 2002
39
Bone marrow failure syndromes in children. 61 54
12430621 2002
40
White blood cell defects: molecular discoveries and clinical management. 54 61
12165204 2002
41
Cloning and sequencing of the canine neutrophil elastase cDNA. 54 61
12487025 2002
42
Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias. 54 61
11957196 2002
43
Cyclic neutropenia. 61 54
11957190 2002
44
Cyclic neutropenia: an unusual disorder of granulopoiesis effectively treated with recombinant granulocyte colony-stimulating factor. 54 61
11737691 2001
45
[Cyclic neutropenia. Detection of a mutation in the gene for neutrophil elastase (ELA2)]. 61 54
11572070 2001
46
Neutrophilic dermatoses in two children with idiopathic neutropenia: association with granulocyte colony-stimulating factor (G-CSF) therapy. 61 54
11737689 2001
47
Clinical implications of mutations of neutrophil elastase in congenital and cyclic neutropenia. 54 61
11846296 2001
48
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 61 54
11001877 2000
49
A patient with cyclic neutropenia complicated by severe persistent neutropenia successfully delivered a healthy baby. 61 54
10939543 2000
50
Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. 61 54
10887102 2000

Variations for Cyclic Neutropenia

ClinVar genetic disease variations for Cyclic Neutropenia:

6 (show top 50) (show all 76) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ELANE NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr)SNV Pathogenic 535843 rs57246956 19:855649-855649 19:855649-855649
2 ELANE NM_001972.4(ELANE):c.669C>A (p.Cys223Ter)SNV Pathogenic 803509 19:856029-856029 19:856029-856029
3 ELANE NM_001972.4(ELANE):c.659G>A (p.Arg220Gln)SNV Pathogenic 16738 rs137854445 19:856019-856019 19:856019-856019
4 ELANE NM_001972.4(ELANE):c.618G>T (p.Leu206Phe)SNV Pathogenic 16739 rs137854446 19:855978-855978 19:855978-855978
5 ELANE NM_001972.4(ELANE):c.182C>T (p.Ala61Val)SNV Pathogenic 16740 rs137854447 19:852990-852990 19:852990-852990
6 ELANE NM_001972.4(ELANE):c.301G>A (p.Val101Met)SNV Pathogenic 844491 19:853338-853338 19:853338-853338
7 ELANE NM_001972.4(ELANE):c.597+1G>ASNV Pathogenic 242287 rs1555710005 19:855795-855795 19:855795-855795
8 ELANE NM_001972.4(ELANE):c.597+5G>ASNV Pathogenic/Likely pathogenic 245598 rs879253882 19:855799-855799 19:855799-855799
9 ELANE NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)SNV Pathogenic/Likely pathogenic 16743 rs137854448 19:855613-855613 19:855613-855613
10 ELANE NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)SNV Pathogenic/Likely pathogenic 16745 rs137854450 19:855574-855574 19:855574-855574
11 ELANE NM_001972.4(ELANE):c.308G>C (p.Arg103Pro)SNV Likely pathogenic 842953 19:853345-853345 19:853345-853345
12 ELANE NM_001972.4(ELANE):c.598-3C>GSNV Likely pathogenic 180347 rs730880095 19:855955-855955 19:855955-855955
13 ELANE NM_001972.4(ELANE):c.52G>C (p.Ala18Pro)SNV Likely pathogenic 208492 rs797045007 19:852380-852380 19:852380-852380
14 ELANE NM_001972.4(ELANE):c.618G>C (p.Leu206Phe)SNV Likely pathogenic 803508 19:855978-855978 19:855978-855978
15 ELANE NM_001972.4(ELANE):c.428G>A (p.Arg143His)SNV Conflicting interpretations of pathogenicity 515631 rs200993994 19:855625-855625 19:855625-855625
16 ELANE NM_001972.4(ELANE):c.251T>C (p.Leu84Pro)SNV Conflicting interpretations of pathogenicity 418179 rs1064793108 19:853288-853288 19:853288-853288
17 ELANE NM_001972.4(ELANE):c.578G>A (p.Arg193Gln)SNV Conflicting interpretations of pathogenicity 242292 rs199659114 19:855775-855775 19:855775-855775
18 ELANE NM_001972.4(ELANE):c.746C>T (p.Ser249Phe)SNV Conflicting interpretations of pathogenicity 242288 rs201224216 19:856106-856106 19:856106-856106
19 ELANE NM_001972.4(ELANE):c.490G>C (p.Gly164Arg)SNV Uncertain significance 449746 rs112990855 19:855687-855687 19:855687-855687
20 ELANE NM_001972.4(ELANE):c.119C>T (p.Ala40Val)SNV Uncertain significance 467828 rs1555709342 19:852927-852927 19:852927-852927
21 ELANE NM_001972.4(ELANE):c.38C>G (p.Ala13Gly)SNV Uncertain significance 535841 rs756726256 19:852366-852366 19:852366-852366
22 ELANE NM_001972.4(ELANE):c.172A>C (p.Thr58Pro)SNV Uncertain significance 535840 rs1555709360 19:852980-852980 19:852980-852980
23 ELANE NM_001972.4(ELANE):c.235G>C (p.Ala79Pro)SNV Uncertain significance 535844 rs769123461 19:853272-853272 19:853272-853272
24 ELANE NM_001972.4(ELANE):c.378G>A (p.Ser126=)SNV Uncertain significance 535839 rs202204133 19:855575-855575 19:855575-855575
25 ELANE NC_000019.10:g.(?_852288)_(856184_?)deldeletion Uncertain significance 832041 19:852288-856184
26 ELANE NM_001972.4(ELANE):c.233G>C (p.Arg78Pro)SNV Uncertain significance 839879 19:853270-853270 19:853270-853270
27 ELANE NM_001972.4(ELANE):c.253G>A (p.Gly85Arg)SNV Uncertain significance 836562 19:853290-853290 19:853290-853290
28 ELANE NM_001972.4(ELANE):c.262A>G (p.Asn88Asp)SNV Uncertain significance 842424 19:853299-853299 19:853299-853299
29 ELANE NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)SNV Uncertain significance 242290 rs201421847 19:853025-853025 19:853025-853025
30 ELANE NM_001972.4(ELANE):c.431G>A (p.Arg144His)SNV Uncertain significance 242281 rs142441575 19:855628-855628 19:855628-855628
31 ELANE NM_001972.4(ELANE):c.565C>A (p.Leu189Ile)SNV Uncertain significance 839730 19:855762-855762 19:855762-855762
32 ELANE NM_001972.4(ELANE):c.634A>G (p.Ile212Val)SNV Uncertain significance 855162 19:855994-855994 19:855994-855994
33 ELANE NM_001972.4(ELANE):c.659G>C (p.Arg220Pro)SNV Uncertain significance 851966 19:856019-856019 19:856019-856019
34 ELANE NM_001972.4(ELANE):c.367-10_367-9dupduplication Uncertain significance 849810 19:855552-855553 19:855552-855553
35 ELANE NM_001972.4(ELANE):c.665G>A (p.Gly222Asp)SNV Uncertain significance 535842 rs1555710104 19:856025-856025 19:856025-856025
36 ELANE NM_001972.4(ELANE):c.10G>A (p.Gly4Ser)SNV Uncertain significance 570477 rs773460580 19:852338-852338 19:852338-852338
37 ELANE NM_001972.4(ELANE):c.12_14CCG[3] (p.Arg6dup)short repeat Uncertain significance 567638 rs1172918693 19:852338-852339 19:852338-852339
38 ELANE NM_001972.4(ELANE):c.637C>T (p.His213Tyr)SNV Uncertain significance 580900 rs201326533 19:855997-855997 19:855997-855997
39 ELANE NM_001972.4(ELANE):c.364C>T (p.Gln122Ter)SNV Uncertain significance 565626 rs1303279241 19:853401-853401 19:853401-853401
40 ELANE NM_001972.4(ELANE):c.419C>T (p.Ala140Val)SNV Uncertain significance 566655 rs538255080 19:855616-855616 19:855616-855616
41 ELANE NM_001972.4(ELANE):c.342G>T (p.Leu114Phe)SNV Uncertain significance 572913 rs1568304522 19:853379-853379 19:853379-853379
42 ELANE NM_001972.4(ELANE):c.647C>T (p.Ala216Val)SNV Uncertain significance 579104 rs760080772 19:856007-856007 19:856007-856007
43 ELANE NM_001972.4(ELANE):c.748G>A (p.Glu250Lys)SNV Uncertain significance 567842 rs1568306204 19:856108-856108 19:856108-856108
44 ELANE NM_001972.4(ELANE):c.14G>A (p.Arg5His)SNV Uncertain significance 661641 19:852342-852342 19:852342-852342
45 ELANE NM_001972.4(ELANE):c.39C>G (p.Ala13=)SNV Uncertain significance 651605 19:852367-852367 19:852367-852367
46 ELANE NM_001972.4(ELANE):c.64G>C (p.Gly22Arg)SNV Uncertain significance 665494 19:852392-852392 19:852392-852392
47 ELANE NM_001972.4(ELANE):c.70A>C (p.Thr24Pro)SNV Uncertain significance 657200 19:852878-852878 19:852878-852878
48 ELANE NM_001972.4(ELANE):c.256G>T (p.Ala86Ser)SNV Uncertain significance 644765 19:853293-853293 19:853293-853293
49 ELANE NM_001972.4(ELANE):c.292G>A (p.Val98Met)SNV Uncertain significance 662721 19:853329-853329 19:853329-853329
50 ELANE NM_001972.4(ELANE):c.298G>A (p.Ala100Thr)SNV Uncertain significance 662107 19:853335-853335 19:853335-853335

UniProtKB/Swiss-Prot genetic disease variations for Cyclic Neutropenia:

73 (show all 17)
# Symbol AA change Variation ID SNP ID
1 ELANE p.Ser126Leu VAR_038619 rs137854450
2 ELANE p.Pro139Leu VAR_038620 rs137854448
3 ELANE p.Phe43Leu VAR_070697
4 ELANE p.Val45Leu VAR_070700
5 ELANE p.Ser46Phe VAR_070702 rs878855320
6 ELANE p.His53Gln VAR_070707
7 ELANE p.Ala61Val VAR_070715 rs137854447
8 ELANE p.Arg81Pro VAR_070723
9 ELANE p.Val82Met VAR_070724
10 ELANE p.Gln97Leu VAR_070727
11 ELANE p.Ile104Asn VAR_070731
12 ELANE p.Ile120Phe VAR_070733 rs113169152
13 ELANE p.Gly203Cys VAR_070755
14 ELANE p.Leu206Phe VAR_070757 rs137854446
15 ELANE p.Asn209Ile VAR_070760
16 ELANE p.Gly210Trp VAR_070761
17 ELANE p.Arg220Gln VAR_070763 rs137854445

Expression for Cyclic Neutropenia

Search GEO for disease gene expression data for Cyclic Neutropenia.

Pathways for Cyclic Neutropenia

Pathways related to Cyclic Neutropenia according to GeneCards Suite gene sharing:

(show all 49)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.02 TNF KITLG IL3 IL1B IFNG ELANE
2
Show member pathways
13.8 TNF KITLG IL3 IL1B CXCL8 CSF3R
3
Show member pathways
13.66 TNF IL3 IL1B IFNG CXCL8 CSF3R
4
Show member pathways
13.39 TNF KITLG IL3 IL1B CXCL8 CSF3R
5
Show member pathways
13.33 TNF KITLG IL3 IL1B IFNG CXCL8
6
Show member pathways
13.29 TNF KITLG IL3 IL1B CXCL8 CSF3R
7
Show member pathways
12.98 TNF KITLG IL3 G6PC3 CSF3R CSF3
8
Show member pathways
12.83 TNF IL3 IL1B IFNG CXCL8
9 12.82 KITLG IL3 IFNG CXCL8 CSF3R
10 12.55 TNF KITLG IL3 IL1B IFNG
11
Show member pathways
12.44 IL3 IFNG CSF3R CSF3 CSF2
12 12.37 TNF IL1B CXCL8 CSF2
13
Show member pathways
12.35 TNF IL1B IFNG CXCL8 CSF3 CSF2
14
Show member pathways
12.31 TNF IL1B IFNG CSF1
15
Show member pathways
12.3 TNF IL1B IFNG CXCL8
16
Show member pathways
12.27 TNF KITLG IL3 IL1B IFNG CXCL8
17 12.26 IL3 ELANE CXCL8 CSF2
18
Show member pathways
12.17 TNF IL1B IFNG CXCL8
19 12.04 TNF IL1B IFNG CSF1
20 12 TNF IL1B IFNG CXCL8
21 11.97 TNF IL1B CSF2 CSF1
22 11.96 TNF IL1B IFNG CXCL8 CSF2
23 11.94 IL3 IL1B IFNG CXCL8
24
Show member pathways
11.85 CXCL8 CSF3 CSF2
25 11.85 TNF IL1B IFNG CXCL8 CSF2 CSF1
26 11.82 TNF KITLG IL3 IFNG CSF3R CSF3
27 11.79 IFNG CXCL8 CSF2
28 11.77 TNF IL1B IFNG
29
Show member pathways
11.77 TNF IL3 IFNG CXCL8 CSF2
30 11.74 TNF IL1B CXCL8
31 11.71 TNF IL1B IFNG GFI1 CSF2 CSF1
32
Show member pathways
11.67 TNF IL1B IFNG CXCL8 CSF2
33 11.65 TNF IL1B CXCL8 CSF3 CSF2
34 11.6 TNF IL1B CXCL8
35 11.56 TNF IL1B IFNG CSF1
36 11.55 TNF KITLG IL3 IL1B CSF3R CSF3
37 11.53 TNF IL1B IFNG CXCL8 CSF3
38 11.52 KITLG IL3 CSF1
39 11.52 TNF IL1B IFNG
40 11.49 TNF IL1B CXCL8 CSF3 CSF2 CSF1
41 11.48 TNF IL1B IFNG
42 11.42 KITLG IL3 IL1B CSF3 CSF2 CSF1
43 11.38 TNF IL1B IFNG
44
Show member pathways
11.37 TNF IFNG CSF2
45 11.35 TNF IL1B IFNG GFI1
46 11.02 TNF KITLG IL3 IL1B CXCL8 CSF3
47 10.98 TNF IL1B CSF1
48 10.82 CSF2 CSF1
49 10.63 TNF IL3 IL1B IFNG CSF3 CSF2

GO Terms for Cyclic Neutropenia

Cellular components related to Cyclic Neutropenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 TNF KITLG IL3 IL1B IFNG ELANE
2 extracellular space GO:0005615 9.32 TNF KITLG IL3 IL1B IFNG ELANE

Biological processes related to Cyclic Neutropenia according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.06 TNF IL1B IFNG CSF2 CSF1
2 inflammatory response GO:0006954 10.02 TNF IL1B CXCL8 CSF1 AP3B1
3 MAPK cascade GO:0000165 9.96 TNF KITLG IL3 IL1B CSF2
4 positive regulation of protein kinase B signaling GO:0051897 9.92 TNF KITLG HAX1 CSF3
5 positive regulation of cell proliferation GO:0008284 9.87 KITLG IL3 IL1B IFNG CSF3 CSF2
6 positive regulation of inflammatory response GO:0050729 9.86 TNF IL1B IFNG
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.85 TNF HAX1 CSF3
8 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.85 TNF HAX1 CSF3
9 regulation of insulin secretion GO:0050796 9.83 TNF IL1B IFNG
10 positive regulation of MAP kinase activity GO:0043406 9.82 TNF KITLG ELANE
11 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.81 KITLG IL3 HAX1 CSF3
12 immune response GO:0006955 9.8 TNF IL3 IL1B IFNG CXCL8 CSF3
13 neutrophil chemotaxis GO:0030593 9.78 SLC37A4 IL1B CXCL8 CSF3R
14 positive regulation of phagocytosis GO:0050766 9.77 TNF IL1B IFNG
15 positive regulation of nitric oxide biosynthetic process GO:0045429 9.77 TNF IL1B IFNG
16 positive regulation of interleukin-6 secretion GO:2000778 9.75 TNF IL1B IFNG
17 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.74 TNF IL1B CSF2
18 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.73 TNF IL3 IFNG CSF2
19 positive regulation of osteoclast differentiation GO:0045672 9.7 TNF IFNG CSF1
20 positive regulation of neuroinflammatory response GO:0150078 9.67 TNF IL1B
21 positive regulation of podosome assembly GO:0071803 9.67 TNF CSF2
22 regulation of myeloid cell differentiation GO:0045637 9.67 CSF3R CSF2
23 macrophage differentiation GO:0030225 9.67 IFNG CSF2 CSF1
24 negative regulation of amyloid-beta clearance GO:1900222 9.66 TNF IFNG
25 positive regulation of interleukin-1 beta biosynthetic process GO:0050725 9.65 TNF IFNG
26 regulation of establishment of endothelial barrier GO:1903140 9.65 TNF IL1B
27 ectopic germ cell programmed cell death GO:0035234 9.64 KITLG IL1B
28 glucose-6-phosphate transport GO:0015760 9.63 SLC37A4 G6PC3
29 neutrophil differentiation GO:0030223 9.63 JAGN1 CSF2
30 astrocyte activation GO:0048143 9.63 TNF IL1B IFNG
31 cellular response to lipopolysaccharide GO:0071222 9.63 TNF IL1B GFI1 CXCL8 CSF3 CSF2
32 positive regulation of interleukin-23 production GO:0032747 9.61 IFNG CSF2
33 positive regulation of fever generation GO:0031622 9.61 TNF IL1B
34 sequestering of triglyceride GO:0030730 9.58 TNF IL1B
35 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.58 TNF IL1B IFNG
36 positive regulation of vitamin D biosynthetic process GO:0060557 9.55 TNF IFNG
37 positive regulation of nitrogen compound metabolic process GO:0051173 9.54 TNF IFNG
38 positive regulation of chemokine biosynthetic process GO:0045080 9.54 TNF IL1B IFNG
39 cytokine-mediated signaling pathway GO:0019221 9.23 TNF IL3 IL1B CXCL8 CSF3R CSF3
40 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.13 TNF IL1B IFNG

Molecular functions related to Cyclic Neutropenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.35 KITLG IL3 CSF3 CSF2 CSF1
2 cytokine activity GO:0005125 9.28 TNF KITLG IL3 IL1B IFNG CXCL8

Sources for Cyclic Neutropenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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