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CH
MCID: CYC010
MIFTS: 63

Cyclic Neutropenia (CH)

Categories: Blood diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cyclic Neutropenia

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MalaCards integrated aliases for Cyclic Neutropenia:

Name: Cyclic Neutropenia 57 12 73 20 43 58 72 29 44 70
Cyclic Hematopoiesis 57 12 20 15
Cyclical Neutropenia 12 29 6
Neutropenia, Cyclic 57 13
Cyclic Hematopoesis 43 70
Neutropenia Cyclic 20 54
Cyclic Agranulocytosis 12
Neutropenia, Periodic 12
Cyclic Haematopoiesis 72
Neutropenia, Cyclical 39
Periodic Neutropenia 43
Cyclic Leucopenia 43
Ch 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
cyclic neutropenia:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:5339
OMIM® 57 162800
ICD9CM 34 288.02
NCIt 50 C3820
SNOMED-CT 67 69295006
ICD10 32 D70.4
MESH via Orphanet 45 C536227
ICD10 via Orphanet 33 D70
UMLS via Orphanet 71 C0221023
Orphanet 58 ORPHA2686
MedGen 41 C0221023
UMLS 70 C0221023 C3671688
Sources

Summaries for Cyclic Neutropenia

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MedlinePlus Genetics : 43 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 autosomal dominant severe congenital neutropenia and pharyngitis. 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 Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone marrow and monocytes, and related phenotypes are sinusitis and headache

GARD : 20 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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Cyclic neutropenia (CyN) is a rare hematologic disorder and form of congenital neutropenia that tends to... more...

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Related Diseases for Cyclic Neutropenia

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

(show top 50) (show all 483)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant severe congenital neutropenia 30.8 GFI1 ELANE
2 pharyngitis 30.6 TNF IL1B CXCL8 CSF2
3 periodontitis 30.5 TNF IL1B IFNG ELANE CXCL8
4 stomatitis 30.4 TNF IL1B IFNG CXCL8 CSF3 CSF2
5 granulocytopenia 30.4 TNF IL3 CSF3 CSF2
6 peritonitis 30.3 TNF IL1B ELANE CXCL8
7 familial mediterranean fever 30.3 TNF IL1B CXCL8
8 brucellosis 30.3 TNF IFNG CXCL8
9 aphthous stomatitis 30.2 TNF IL1B IFNG CXCL8 CSF2
10 felty syndrome 30.2 IL3 CSF3 CSF2
11 gingivitis 30.2 TNF IL1B IFNG ELANE CXCL8 CSF3
12 cellulitis 30.2 TNF CSF3 CSF2
13 pyoderma gangrenosum 30.1 TNF CXCL8 CSF3
14 macular retinal edema 30.1 TNF IL1B CXCL8
15 tonsillitis 30.1 TNF IL1B IFNG CXCL8
16 endometritis 30.1 TNF IL1B CXCL8
17 otitis media 30.1 TNF IL1B IFNG CXCL8
18 conjunctivitis 30.1 TNF IFNG CXCL8
19 uveitis 30.1 TNF IL1B IFNG CXCL8
20 spondylitis 30.0 TNF IL1B IFNG
21 fasciitis 30.0 TNF IFNG CXCL8
22 placenta disease 30.0 TNF IL1B CXCL8
23 polycythemia vera 30.0 KITLG IL3 CSF3 CSF2
24 pyoderma 30.0 TNF IL1B CXCL8 CSF3
25 diarrhea 29.9 TNF IL1B IFNG CXCL8 CSF3
26 bone resorption disease 29.9 TNF IL1B CSF1
27 crohn's disease 29.9 TNF IL1B IFNG CXCL8 CSF2
28 idiopathic neutropenia 29.9 TNF IL1B GFI1 CSF3R
29 toxic shock syndrome 29.9 TNF IL1B IFNG CXCL8
30 proteasome-associated autoinflammatory syndrome 1 29.9 TNF IL1B IFNG ELANE CXCL8
31 hypereosinophilic syndrome 29.8 IL3 IFNG CXCL8 CSF2
32 bacterial infectious disease 29.8 TNF IL3 IL1B IFNG ELANE CXCL8
33 thrombocytosis 29.7 KITLG IL3 IL1B CSF3 CSF2
34 aggressive periodontitis 29.7 TNF IL1B IFNG ELANE CXCL8
35 appendicitis 29.7 TNF IL1B IFNG CXCL8 CSF3
36 candidiasis 29.7 TNF IL1B IFNG CXCL8 CSF2
37 dermatitis 29.7 TNF IL1B IFNG CXCL8 CSF2
38 glycogen storage disease 29.7 SLC37A4 G6PC3 CXCL8 CSF3
39 leukemia, acute lymphoblastic 29.6 KITLG IL3 CSF3R CSF3 CSF2
40 pancytopenia 29.4 IL3 IFNG G6PC3 CSF3 CSF2 CSF1
41 acute leukemia 29.4 KITLG IL3 CSF3R CSF3 CSF2
42 chronic granulomatous disease 29.4 TNF IL1B IFNG ELANE CXCL8 CSF3
43 leukemia, chronic myeloid 29.4 KITLG IL3 ELANE CSF3R CSF3 CSF2
44 immune deficiency disease 29.4 TNF SLC37A4 IL1B IFNG CSF2 CSF1
45 shwachman-diamond syndrome 1 29.3 HAX1 GFI1 G6PC3 ELANE CSF3R CSF3
46 myelofibrosis 29.2 TNF IL3 IL1B CXCL8 CSF3R CSF3
47 systemic lupus erythematosus 29.2 TNF IL1B IFNG ELANE CXCL8 CSF3
48 thrombocytopenia 29.1 TNF KITLG IL3 IL1B IFNG CXCL8
49 neutropenia, severe congenital, 3, autosomal recessive 28.5 JAGN1 IL3 HAX1 ELANE CSF3R CSF3
50 aplastic anemia 28.3 TNF KITLG IL3 IL1B IFNG CXCL8

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



Diseases related to Cyclic Neutropenia
Sources

Symptoms & Phenotypes for Cyclic Neutropenia

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Human phenotypes related to Cyclic Neutropenia:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000246
2 headache 58 31 hallmark (90%) Very frequent (99-80%) HP:0002315
3 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
4 cyclic neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0040289
5 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
6 gingivitis 58 31 frequent (33%) Frequent (79-30%) HP:0000230
7 respiratory tract infection 58 31 frequent (33%) Frequent (79-30%) HP:0011947
8 cervical lymphadenopathy 58 31 frequent (33%) Frequent (79-30%) HP:0025289
9 oral ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0000155
10 tooth abscess 58 31 frequent (33%) Frequent (79-30%) HP:0030757
11 recurrent skin infections 58 31 frequent (33%) Frequent (79-30%) HP:0001581
12 pharyngitis 58 31 frequent (33%) Frequent (79-30%) HP:0025439
13 periodic fever 58 31 frequent (33%) Frequent (79-30%) HP:0032323
14 recurrent tonsillitis 31 frequent (33%) HP:0011110
15 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
16 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
17 lymphopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001888
18 periodontitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000704
19 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
20 otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000388
21 atrophy of alveolar ridges 58 31 occasional (7.5%) Occasional (29-5%) HP:0006308
22 perianal abscess 58 31 occasional (7.5%) Occasional (29-5%) HP:0009789
23 premature loss of permanent teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006357
24 opportunistic infection 58 31 occasional (7.5%) Occasional (29-5%) HP:0031690
25 decreased eosinophil count 58 31 occasional (7.5%) Occasional (29-5%) HP:0031891
26 sepsis 58 31 very rare (1%) Very rare (<4-1%) HP:0100806
27 peritonitis 58 31 very rare (1%) Very rare (<4-1%) HP:0002586
28 enterocolitis 58 31 very rare (1%) Very rare (<4-1%) HP:0004387
29 severe infection 58 31 very rare (1%) Very rare (<4-1%) HP:0032169
30 bacteremia 58 31 very rare (1%) Very rare (<4-1%) HP:0031864
31 fever 31 HP:0001945
32 abnormality of the mouth 31 HP:0000153
33 neutropenia 31 HP:0001875
34 lymphadenopathy 58 Frequent (79-30%)
35 tonsillitis 58 Frequent (79-30%)
36 recurrent fever 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Cyclic Neutropenia:

46
# 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 9.44 AP3B1 CSF1 CSF2 CSF3R ELANE G6PC3
Sources

Drugs & Therapeutics for Cyclic Neutropenia

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
3
Posaconazole Approved, Investigational, Vet_approved 171228-49-2 147912
4 Cytochrome P-450 CYP3A Inhibitors
5 Cytochrome P-450 Enzyme Inhibitors
6 Hormone Antagonists
7 Anti-Infective Agents, Local
8 Hormones
9 Antifungal Agents
10 Anti-Infective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Incidence of Invasive Aspergillosis in Acute Myeloid Leukemia Completed NCT02900430 Patients with antifungal prophylaxis

Search NIH Clinical Center for Cyclic Neutropenia

Cochrane evidence based reviews: cyclic neutropenia

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Genetic Tests for Cyclic Neutropenia

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Genetic tests related to Cyclic Neutropenia:

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

Anatomical Context for Cyclic Neutropenia

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MalaCards organs/tissues related to Cyclic Neutropenia:

40
Neutrophil, Bone Marrow, Monocytes, Bone, Colon, Myeloid, Liver
Sources

Publications for Cyclic Neutropenia

About this section

Articles related to Cyclic Neutropenia:

(show top 50) (show all 505)
# Title Authors PMID Year
1
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 6 57 61
10581030 1999
2
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. 6 54 61
14962902 2004
3
Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. 54 61 57
12897784 2003
4
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 54 61 6
11001877 2000
5
Hematopoietic progenitors in cyclic neutropenia: effect of granulocyte colony-stimulating factor in vivo. 61 54 57
1692489 1990
6
ELANE mutant-specific activation of different UPR pathways in congenital neutropenia. 6 61
26567890 2016
7
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. 61 6
25427142 2015
8
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 6 61
23463630 2013
9
Four novel ELANE mutations in patients with congenital neutropenia. 61 6
21425445 2011
10
Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. 61 6
20582973 2010
11
Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia. 6 61
17391497 2007
12
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. 61 6
16551967 2006
13
A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia. 6 61
16079102 2005
14
Hereditary cyclic neutropenia in the male members of a Chinese family with inverted Y chromosome. 57 61
10971405 2000
15
Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. 61 57
8989458 1996
16
A case report of familial cyclic neutropenia. 57 61
1282277 1992
17
Treatment of cyclic neutropenia with granulocyte colony-stimulating factor. 57 61
2469956 1989
18
Human cyclic neutropenia transferred by allogeneic bone marrow grafting. 57 61
6753968 1982
19
Human cyclic neutropenia: clinical review and long-term follow-up of patients. 57 61
7453561 1981
20
Canine cyclic neutropenia. A stem cell defect. 61 57
4591036 1974
21
Cyclic hematopoiesis: the mechanism of cyclic neutropenia in grey collie dogs. 61 57
5054472 1972
22
Studies of neutrophil production and turnover in grey collie dogs with cyclic neutropenia. 61 57
5054471 1972
23
[Cell kinetics of granulopoiesis and of the neutrophil system in a case oc cyclic neutropenia]. 61 57
4986188 1970
24
Mosaicism of an ELANE Mutation in an Asymptomatic Mother. 6
30635825 2019
25
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases. 6
30273710 2019
26
Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell Death 6
30040071 2018
27
A Truncated Granulocyte Colony-stimulating Factor Receptor (G-CSFR) Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: IMPLICATION FOR UNDERSTANDING CSF3R GENE MUTATIONS IN SEVERE CONGENITAL NEUTROPENIA. 6
28073911 2017
28
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. 6
25703294 2016
29
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. 6
24523240 2014
30
Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene. 6
24616599 2014
31
Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving. 6
22758217 2012
32
Novel ELANE gene mutation in a Korean girl with severe congenital neutropenia. 6
22148006 2011
33
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia. 6
20049848 2010
34
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. 6
19775295 2009
35
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. 6
19036076 2009
36
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. 6
18611981 2008
37
Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. 6
16737875 2006
38
Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes. 6
15657182 2005
39
Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. 6
11675333 2001
40
Cyclic hormonogenesis in gray collie dogs: interactions of hematopoietic and endocrine systems. 57
3026784 1987
41
Canine cyclic haematopoiesis: marrow transplantation between littermates. 57
127610 1975
42
Familial cyclical neutropenia. 57
6050865 1967
43
[Considerations on a family of granulopenics]. 57
13532427 1958
44
Neutrophil elastase-processing defect in cyclic hematopoietic dogs. 61 54
19941936 2010
45
Ela2 mutations and clinical manifestations in familial congenital neutropenia. 61 54
19415009 2009
46
[Cyclic neutropenia: a de novo case and treatment with G-CSF]. 54 61
19268636 2009
47
The effect of recombinant granulocyte colony-stimulating factor on oral and periodontal manifestations in a patient with cyclic neutropenia: a case report. 54 61
20339570 2009
48
Genetic and molecular diagnosis of severe congenital neutropenia. 61 54
19057199 2009
49
Severe congenital neutropenia and the unfolded protein response. 54 61
18043239 2008
50
Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. 61 54
17761833 2007
Sources

Variations for Cyclic Neutropenia

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ClinVar genetic disease variations for Cyclic Neutropenia:

6 (show top 50) (show all 120)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELANE NM_001972.4(ELANE):c.669C>A (p.Cys223Ter) SNV Pathogenic 803509 rs1599294750 GRCh37: 19:856029-856029
GRCh38: 19:856029-856029
2 ELANE NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) SNV Pathogenic 16738 rs137854445 GRCh37: 19:856019-856019
GRCh38: 19:856019-856019
3 ELANE NM_001972.4(ELANE):c.182C>T (p.Ala61Val) SNV Pathogenic 16740 rs137854447 GRCh37: 19:852990-852990
GRCh38: 19:852990-852990
4 ELANE NM_001972.4(ELANE):c.597+1G>A SNV Pathogenic 242287 rs1555710005 GRCh37: 19:855795-855795
GRCh38: 19:855795-855795
5 ELANE NM_001972.4(ELANE):c.597+5G>A SNV Pathogenic 245598 rs879253882 GRCh37: 19:855799-855799
GRCh38: 19:855799-855799
6 ELANE NM_001972.4(ELANE):c.618G>T (p.Leu206Phe) SNV Pathogenic 16739 rs137854446 GRCh37: 19:855978-855978
GRCh38: 19:855978-855978
7 ELANE NM_001972.4(ELANE):c.182C>T (p.Ala61Val) SNV Pathogenic 16740 rs137854447 GRCh37: 19:852990-852990
GRCh38: 19:852990-852990
8 ELANE NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) SNV Pathogenic 16745 rs137854450 GRCh37: 19:855574-855574
GRCh38: 19:855574-855574
9 ELANE NM_001972.4(ELANE):c.597+1G>A SNV Pathogenic 242287 rs1555710005 GRCh37: 19:855795-855795
GRCh38: 19:855795-855795
10 ELANE NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) SNV Pathogenic 16745 rs137854450 GRCh37: 19:855574-855574
GRCh38: 19:855574-855574
11 ELANE NM_001972.4(ELANE):c.301G>A (p.Val101Met) SNV Pathogenic 844491 GRCh37: 19:853338-853338
GRCh38: 19:853338-853338
12 ELANE NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) SNV Pathogenic 16738 rs137854445 GRCh37: 19:856019-856019
GRCh38: 19:856019-856019
13 ELANE NM_001972.4(ELANE):c.607G>C (p.Gly203Arg) SNV Pathogenic 939547 GRCh37: 19:855967-855967
GRCh38: 19:855967-855967
14 ELANE NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) SNV Pathogenic 16748 rs137854451 GRCh37: 19:856000-856000
GRCh38: 19:856000-856000
15 ELANE NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) SNV Pathogenic 535843 rs57246956 GRCh37: 19:855649-855649
GRCh38: 19:855649-855649
16 ELANE NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) SNV Pathogenic/Likely pathogenic 16743 rs137854448 GRCh37: 19:855613-855613
GRCh38: 19:855613-855613
17 ELANE NM_001972.4(ELANE):c.598-3C>G SNV Likely pathogenic 180347 rs730880095 GRCh37: 19:855955-855955
GRCh38: 19:855955-855955
18 ELANE NM_001972.4(ELANE):c.597+5G>A SNV Likely pathogenic 245598 rs879253882 GRCh37: 19:855799-855799
GRCh38: 19:855799-855799
19 ELANE NM_001972.4(ELANE):c.308G>C (p.Arg103Pro) SNV Likely pathogenic 842953 GRCh37: 19:853345-853345
GRCh38: 19:853345-853345
20 ELANE NM_001972.4(ELANE):c.253G>A (p.Gly85Arg) SNV Likely pathogenic 836562 GRCh37: 19:853290-853290
GRCh38: 19:853290-853290
21 ELANE NM_001972.4(ELANE):c.618G>C (p.Leu206Phe) SNV Likely pathogenic 803508 rs137854446 GRCh37: 19:855978-855978
GRCh38: 19:855978-855978
22 ELANE NM_001972.4(ELANE):c.136T>C (p.Ser46Pro) SNV Likely pathogenic 952580 GRCh37: 19:852944-852944
GRCh38: 19:852944-852944
23 ELANE NM_001972.4(ELANE):c.524C>T (p.Thr175Met) SNV Conflicting interpretations of pathogenicity 696438 rs193141883 GRCh37: 19:855721-855721
GRCh38: 19:855721-855721
24 ELANE NM_001972.4(ELANE):c.493A>G (p.Ile165Val) SNV Uncertain significance 664815 rs1599294094 GRCh37: 19:855690-855690
GRCh38: 19:855690-855690
25 ELANE NM_001972.4(ELANE):c.64G>C (p.Gly22Arg) SNV Uncertain significance 665494 rs1477643766 GRCh37: 19:852392-852392
GRCh38: 19:852392-852392
26 ELANE NM_001972.4(ELANE):c.647C>T (p.Ala216Val) SNV Uncertain significance 579104 rs760080772 GRCh37: 19:856007-856007
GRCh38: 19:856007-856007
27 ELANE NM_001972.4(ELANE):c.342G>T (p.Leu114Phe) SNV Uncertain significance 572913 rs1568304522 GRCh37: 19:853379-853379
GRCh38: 19:853379-853379
28 ELANE NM_001972.4(ELANE):c.364C>T (p.Gln122Ter) SNV Uncertain significance 565626 rs1303279241 GRCh37: 19:853401-853401
GRCh38: 19:853401-853401
29 ELANE NM_001972.4(ELANE):c.419C>T (p.Ala140Val) SNV Uncertain significance 566655 rs538255080 GRCh37: 19:855616-855616
GRCh38: 19:855616-855616
30 ELANE NM_001972.4(ELANE):c.12_14CCG[3] (p.Arg6dup) Microsatellite Uncertain significance 567638 rs1172918693 GRCh37: 19:852338-852339
GRCh38: 19:852338-852339
31 ELANE NM_001972.4(ELANE):c.748G>A (p.Glu250Lys) SNV Uncertain significance 567842 rs1568306204 GRCh37: 19:856108-856108
GRCh38: 19:856108-856108
32 ELANE NM_001972.4(ELANE):c.565C>A (p.Leu189Ile) SNV Uncertain significance 839730 GRCh37: 19:855762-855762
GRCh38: 19:855762-855762
33 ELANE NM_001972.4(ELANE):c.233G>C (p.Arg78Pro) SNV Uncertain significance 839879 GRCh37: 19:853270-853270
GRCh38: 19:853270-853270
34 ELANE NM_001972.4(ELANE):c.659G>C (p.Arg220Pro) SNV Uncertain significance 851966 GRCh37: 19:856019-856019
GRCh38: 19:856019-856019
35 ELANE NM_001972.4(ELANE):c.634A>G (p.Ile212Val) SNV Uncertain significance 855162 GRCh37: 19:855994-855994
GRCh38: 19:855994-855994
36 ELANE NM_001972.4(ELANE):c.251T>C (p.Leu84Pro) SNV Uncertain significance 418179 rs1064793108 GRCh37: 19:853288-853288
GRCh38: 19:853288-853288
37 ELANE NC_000019.10:g.(?_852288)_(856184_?)del Deletion Uncertain significance 832041 GRCh37: 19:852288-856184
GRCh38:
38 ELANE NM_001972.4(ELANE):c.752A>C (p.Asp251Ala) SNV Uncertain significance 948155 GRCh37: 19:856112-856112
GRCh38: 19:856112-856112
39 ELANE NM_001972.4(ELANE):c.701C>T (p.Pro234Leu) SNV Uncertain significance 811949 rs760263661 GRCh37: 19:856061-856061
GRCh38: 19:856061-856061
40 ELANE NM_001972.4(ELANE):c.269C>T (p.Ser90Leu) SNV Uncertain significance 938192 GRCh37: 19:853306-853306
GRCh38: 19:853306-853306
41 ELANE NM_001972.4(ELANE):c.52G>C (p.Ala18Pro) SNV Uncertain significance 208492 rs797045007 GRCh37: 19:852380-852380
GRCh38: 19:852380-852380
42 ELANE NM_001972.4(ELANE):c.378G>A (p.Ser126=) SNV Uncertain significance 535839 rs202204133 GRCh37: 19:855575-855575
GRCh38: 19:855575-855575
43 ELANE NM_001972.4(ELANE):c.172A>C (p.Thr58Pro) SNV Uncertain significance 535840 rs1555709360 GRCh37: 19:852980-852980
GRCh38: 19:852980-852980
44 ELANE NM_001972.4(ELANE):c.38C>G (p.Ala13Gly) SNV Uncertain significance 535841 rs756726256 GRCh37: 19:852366-852366
GRCh38: 19:852366-852366
45 ELANE NM_001972.4(ELANE):c.665G>A (p.Gly222Asp) SNV Uncertain significance 535842 rs1555710104 GRCh37: 19:856025-856025
GRCh38: 19:856025-856025
46 ELANE NM_001972.4(ELANE):c.235G>C (p.Ala79Pro) SNV Uncertain significance 535844 rs769123461 GRCh37: 19:853272-853272
GRCh38: 19:853272-853272
47 ELANE NM_001972.4(ELANE):c.367-1G>C SNV Uncertain significance 638881 rs1442062349 GRCh37: 19:855563-855563
GRCh38: 19:855563-855563
48 ELANE NM_001972.4(ELANE):c.67+1G>T SNV Uncertain significance 639706 rs1599290074 GRCh37: 19:852396-852396
GRCh38: 19:852396-852396
49 ELANE NM_001972.4(ELANE):c.567C>G (p.Leu189=) SNV Uncertain significance 641103 rs751132983 GRCh37: 19:855764-855764
GRCh38: 19:855764-855764
50 ELANE NC_000019.9:g.(?_855938)_(856184_?)dup Duplication Uncertain significance 641564 GRCh37: 19:855938-856184
GRCh38: 19:855938-856184

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

72 (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

Sources

Expression for Cyclic Neutropenia

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Search GEO for disease gene expression data for Cyclic Neutropenia.
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Pathways for Cyclic Neutropenia

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

(show top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 14.01 TNF KITLG IL3 IL1B IFNG ELANE
2
ERK Signaling 63
Show member pathways
 13.8 TNF KITLG IL3 IL1B CXCL8 CSF3R
3
PEDF Induced Signaling 63
Show member pathways
 13.65 TNF IL3 IL1B IFNG CXCL8 CSF3R
4
Akt Signaling 63
Show member pathways
 13.39 TNF KITLG IL3 IL1B CXCL8 CSF3R
5
Cytokine Signaling in Immune system 65
Show member pathways
 13.33 TNF KITLG IL3 IL1B IFNG CXCL8
6
PAK Pathway 63
Show member pathways
 13.29 TNF KITLG IL3 IL1B CXCL8 CSF3R
7
PI3K-Akt signaling pathway 36
Show member pathways
 12.98 TNF KITLG IL3 G6PC3 CSF3R CSF3
8
Allograft rejection 1 36
Show member pathways
 12.83 TNF IL3 IL1B IFNG CXCL8
9
Pathways in cancer 36
12.82 KITLG IL3 IFNG CXCL8 CSF3R
10
NF-kappaB Signaling 4
12.55 TNF KITLG IL3 IL1B IFNG
11
Immune response Role of DAP12 receptors in NK cells 23
Show member pathways
 12.49 TNF IL3 IFNG CSF2
12
JAK-STAT signaling pathway 36
Show member pathways
 12.41 IL3 IFNG CSF3R CSF3 CSF2
13
Shigellosis 36
12.38 TNF IL1B CXCL8 CSF2
14
IL-17 Family Signaling Pathways 64
Show member pathways
 12.35 TNF IL1B IFNG CXCL8 CSF3 CSF2
15
Folate Metabolism 1
Show member pathways
 12.32 TNF IL1B IFNG CSF1
16
Toll Comparative Pathway 63
Show member pathways
 12.3 TNF IL1B IFNG CXCL8
17
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.27 TNF KITLG IL3 IL1B IFNG CXCL8
18
Transcriptional misregulation in cancer 36
12.25 IL3 ELANE CXCL8 CSF2
19
Bacterial infections in CF airways 23
Show member pathways
 12.17 TNF IL1B IFNG CXCL8
20
Osteoclast differentiation 36
12.04 TNF IL1B IFNG CSF1
21
Spinal Cord Injury 1
12.01 TNF IL1B IFNG CXCL8
22
TNF signaling pathway 36
11.97 TNF IL1B CSF2 CSF1
23
Amoebiasis 36
11.96 TNF IL1B IFNG CXCL8 CSF2
24
Senescence and Autophagy in Cancer 1
11.94 IL3 IL1B IFNG CXCL8
25
AGE-RAGE signaling pathway in diabetic complications 36
11.89 TNF IL1B CXCL8
26
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 11.85 CXCL8 CSF3 CSF2
27
Rheumatoid arthritis 36
11.85 TNF IL1B IFNG CXCL8 CSF2 CSF1
28
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.82 TNF KITLG IL3 IFNG CSF3R CSF3
29
Glucocorticoid receptor regulatory network 1
11.79 IFNG CXCL8 CSF2
30
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.79 TNF IL3 IFNG CXCL8 CSF2
31
Innate Lymphoid Cell Differentiation Pathways 64
11.77 TNF IL1B IFNG
32
Th1 Differentiation Pathway 64
Show member pathways
 11.74 TNF IL1B IFNG
33
Pertussis 36
11.74 TNF IL1B CXCL8
34
Dendritic Cells Developmental Lineage Pathway 64
11.71 TNF IL1B IFNG GFI1 CSF2 CSF1
35
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.67 TNF IL1B IFNG CXCL8 CSF2
36
Lung fibrosis 1
11.65 TNF IL1B CXCL8 CSF3 CSF2
37
Legionellosis 36
11.6 TNF IL1B CXCL8
38
MSP-RON Signaling 63
11.56 TNF IL1B IFNG CSF1
39
Hematopoietic cell lineage 36
11.55 TNF KITLG IL3 IL1B CSF3R CSF3
40
Malaria 36
11.53 TNF IL1B IFNG CXCL8 CSF3
41
Differentiation Pathway 1
11.52 KITLG IL3 CSF1
42
Aryl Hydrocarbon Receptor Pathway 1
11.52 TNF IL1B IFNG
43
Interleukin-10 signaling 65
11.49 TNF IL1B CXCL8 CSF3 CSF2 CSF1
44
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.48 TNF IL1B IFNG
45
Hematopoietic Stem Cell Differentiation 1
11.42 KITLG IL3 IL1B CSF3 CSF2 CSF1
46
African trypanosomiasis 36
11.39 TNF IL1B IFNG
47
IL-15 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types 64
Show member pathways
 11.37 TNF IFNG CSF2
48
Development and heterogeneity of the ILC family 1
11.35 TNF IL1B IFNG GFI1
49
G-protein signaling_Rap2B regulation pathway 23
11 TNF KITLG IL3 IL1B CXCL8 CSF3
50
LDL Oxidation in Atherogenesis 63
10.98 TNF IL1B CSF1
Sources

GO Terms for Cyclic Neutropenia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.65 TNF KITLG IL3 IL1B IFNG ELANE
2 extracellular region GO:0005576 9.36 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 inflammatory response GO:0006954 10 TNF IL1B CXCL8 CSF1 AP3B1
2 positive regulation of gene expression GO:0010628 9.97 TNF IL1B IFNG CXCL8 CSF2 CSF1
3 MAPK cascade GO:0000165 9.93 TNF KITLG IL3 IL1B CSF2
4 positive regulation of protein kinase B signaling GO:0051897 9.91 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 phosphatidylinositol 3-kinase signaling GO:0014068 9.85 TNF HAX1 CSF3
8 positive regulation of interleukin-6 production GO:0032755 9.85 TNF IL1B IFNG
9 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.84 TNF HAX1 CSF3
10 neutrophil chemotaxis GO:0030593 9.82 SLC37A4 CXCL8 CSF3R
11 regulation of insulin secretion GO:0050796 9.81 TNF IL1B IFNG
12 positive regulation of MAP kinase activity GO:0043406 9.8 TNF KITLG ELANE
13 immune response GO:0006955 9.8 TNF IL3 IL1B IFNG CXCL8 CSF3
14 positive regulation of interleukin-8 production GO:0032757 9.79 TNF IL1B ELANE
15 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.76 KITLG IL3 HAX1 CSF3
16 positive regulation of phagocytosis GO:0050766 9.75 TNF IL1B IFNG
17 positive regulation of nitric oxide biosynthetic process GO:0045429 9.74 TNF IL1B IFNG
18 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.72 TNF IL1B CSF2
19 positive regulation of neuroinflammatory response GO:0150078 9.67 TNF IL1B
20 regulation of myeloid cell differentiation GO:0045637 9.67 CSF3R CSF2
21 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.67 TNF IL3 IFNG CSF2
22 negative regulation of amyloid-beta clearance GO:1900222 9.66 TNF IFNG
23 positive regulation of podosome assembly GO:0071803 9.66 TNF CSF2
24 negative regulation of chemokine production GO:0032682 9.65 SLC37A4 ELANE
25 granulocyte differentiation GO:0030851 9.65 CSF3 AP3B1
26 regulation of establishment of endothelial barrier GO:1903140 9.65 TNF IL1B
27 positive regulation of osteoclast differentiation GO:0045672 9.65 TNF IFNG CSF1
28 glucose-6-phosphate transport GO:0015760 9.63 SLC37A4 G6PC3
29 vascular endothelial growth factor production GO:0010573 9.63 TNF IL1B
30 cellular response to lipopolysaccharide GO:0071222 9.63 TNF IL1B GFI1 CXCL8 CSF3 CSF2
31 macrophage differentiation GO:0030225 9.61 IFNG CSF2 CSF1
32 positive regulation of interleukin-23 production GO:0032747 9.6 IFNG CSF2
33 positive regulation of fever generation GO:0031622 9.59 TNF IL1B
34 neutrophil differentiation GO:0030223 9.58 JAGN1 CSF2
35 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.58 TNF IL1B IFNG
36 sequestering of triglyceride GO:0030730 9.56 TNF IL1B
37 positive regulation of vitamin D biosynthetic process GO:0060557 9.52 TNF IFNG
38 positive regulation of nitrogen compound metabolic process GO:0051173 9.51 TNF 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

Sources for Cyclic Neutropenia

About this section
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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