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CH
MCID: CYC010
MIFTS: 56

Cyclic Neutropenia (CH)

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

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MalaCards integrated aliases for Cyclic Neutropenia:

Name: Cyclic Neutropenia 58 12 77 54 26 76 45 74
Cyclic Hematopoiesis 58 12 54 15
Cyclical Neutropenia 12 30 6 41
Neutropenia, Cyclic 58 13
Cyclic Hematopoesis 26 74
Neutropenia Cyclic 54 56
Cyclic Agranulocytosis 12
Neutropenia, Periodic 12
Cyclic Haematopoiesis 76
Periodic Neutropenia 26
Cyclic Leucopenia 26
Ch 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cyclic neutropenia:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Cyclic Neutropenia

About this section
NIH Rare Diseases : 54 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).

MalaCards based summary : Cyclic Neutropenia, also known as cyclic hematopoiesis, is related to neutropenia and granulocytopenia. An important gene associated with Cyclic Neutropenia is ELANE (Elastase, Neutrophil Expressed), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. Affiliated tissues include neutrophil, bone and monocytes, and related phenotypes are fatigue and anemia

Genetics Home Reference : 26 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.

OMIM : 58 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 : 76 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 : 77 Cyclic neutropenia (or cyclical neutropenia) is a form of congenital neutropenia that tends to occur... 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 241)
# Related Disease Score Top Affiliating Genes
1 neutropenia 30.8 IL3 G6PC3 ELANE CSF3 CSF2
2 granulocytopenia 30.2 IL3 CSF3 CSF2
3 gingivitis 29.7 ELANE IL1B
4 pancytopenia 29.7 IL3 CSF3 CSF2
5 stomatitis 29.6 IL1B CSF3 CSF2
6 tonsillitis 29.4 IFNG IL1B
7 myelodysplastic syndrome 29.2 CSF2 CSF3 IL3 KITLG
8 leukemia, acute myeloid 29.1 CSF2 CSF3 IL3 KITLG
9 allergic hypersensitivity disease 29.1 IFNG IL3 KITLG
10 severe congenital neutropenia 29.1 CSF2 KITLG IL3 G6PC3 ELANE CSF3
11 congenital hypothyroidism 11.9
12 chediak-higashi syndrome 11.9
13 blood group, chido/rodgers system 11.6
14 central hypoventilation syndrome, congenital 11.5
15 cluster headache 11.4
16 dentin dysplasia, type i 11.3
17 cluster headache, familial 11.2
18 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.1
19 propionic acidemia 11.0
20 horns in sheep 10.4
21 pontocerebellar hypoplasia 10.4
22 hypothyroidism 10.3
23 neonatal hypothyroidism 10.3
24 pemphigus foliaceus 10.3
25 engraftment syndrome 10.3 CSF2 CSF3
26 capillary leak syndrome 10.3 CSF2 ELANE
27 ecthyma 10.2 CSF2 CSF3
28 seborrheic infantile dermatitis 10.2 CSF2 IL3
29 ewing's family of tumors 10.2 CSF3 KITLG
30 spindle cell hemangioma 10.2
31 autoimmune vasculitis 10.2 ELANE IL1B
32 amyloidosis 10.2
33 diarrhea 10.1
34 eosinophilic pneumonia 10.1 CSF2 IL3
35 burns 10.1 CSF2 IL1B
36 gingival disease 10.1 ELANE IL1B
37 central nervous system tuberculosis 10.1 ELANE IL1B
38 leukemia 10.1
39 periodontitis 10.1
40 acute respiratory distress syndrome 10.1 ELANE IL1B
41 hypochondroplasia 10.1
42 bronchitis 10.1
43 rere-related disorders 10.1
44 streptococcal group a invasive disease 10.1
45 newborn respiratory distress syndrome 10.1 ELANE IL1B
46 idiopathic hypercalciuria 10.1 CSF2 IL1B
47 retinoblastoma 10.1
48 common variable immunodeficiency 10.0
49 stachybotrys chartarum 10.0 IL1B IL3
50 mucositis 10.0 CSF2 CSF3

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:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 fatigue 33 hallmark (90%) HP:0012378
2 anemia 33 hallmark (90%) HP:0001903
3 neutropenia 33 hallmark (90%) HP:0001875
4 sepsis 33 hallmark (90%) HP:0100806
5 recurrent skin infections 33 hallmark (90%) HP:0001581
6 oral ulcer 33 hallmark (90%) HP:0000155
7 overlapping toe 33 hallmark (90%) HP:0001845
8 periodontitis 33 frequent (33%) HP:0000704
9 recurrent respiratory infections 33 occasional (7.5%) HP:0002205
10 carious teeth 33 occasional (7.5%) HP:0000670
11 abdominal pain 33 occasional (7.5%) HP:0002027
12 thrombocytopenia 33 occasional (7.5%) HP:0001873
13 lymphadenopathy 33 occasional (7.5%) HP:0002716
14 recurrent aphthous stomatitis 33 occasional (7.5%) HP:0011107
15 abnormal eosinophil morphology 33 occasional (7.5%) HP:0001879
16 fever 33 HP:0001945
17 abnormality of the mouth 33 HP:0000153
18 cyclic neutropenia 33 HP:0040289

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.8 CSF2 CSF3 ELANE G6PC3 IFNG IL1B
2 immune system MP:0005387 9.7 CSF2 CSF3 ELANE G6PC3 IFNG IL1B
3 integument MP:0010771 9.35 CSF2 CSF3 IFNG IL1B KITLG
4 neoplasm MP:0002006 9.02 CSF2 ELANE IFNG IL1B KITLG
Sources

Drugs & Therapeutics for Cyclic Neutropenia

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Search Clinical Trials , 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 30 ELANE
Sources

Anatomical Context for Cyclic Neutropenia

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MalaCards organs/tissues related to Cyclic Neutropenia:

42
Neutrophil, Bone, Monocytes, Bone Marrow, Skin, T Cells, Colon
Sources

Publications for Cyclic Neutropenia

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Articles related to Cyclic Neutropenia:

(show top 50) (show all 223)
# Title Authors Year
1
ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer: A case report. ( 29517659 )
2018
2
Acquired cyclic neutropenia associated with cocaine-induced anti-neutrophil cytoplasmic antibodies binding to human neutrophil elastase. ( 29999538 )
2018
3
Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events. ( 28197346 )
2017
4
Long-Term Effects of G-CSF Therapy in Cyclic Neutropenia. ( 29211670 )
2017
5
Giant Cell Arteritis which Developed after the Administration of Granulocyte-colony Stimulating Factor for Cyclic Neutropenia. ( 27523011 )
2016
6
Severe congenital cyclic neutropenia: A case report. ( 27857902 )
2016
7
Two cases of cyclic neutropenia with acquired CSF3R mutations, with 1 developing AML. ( 27030388 )
2016
8
Appendectomy in a child with cyclic neutropenia in profound neutropenic episode. ( 26316766 )
2015
9
Cyclic neutropenia with a novel gene mutation presenting with a necrotizing soft tissue infection and severe sepsis: case report. ( 25880377 )
2015
10
Mosaicism of an ELANE mutation in an asymptomatic mother in a familial case of cyclic neutropenia. ( 25912133 )
2015
11
Full-Arch Rehabilitation of a Patient With Cyclic Neutropenia. ( 25913513 )
2015
12
Hematogones in the peripheral blood of a 5A1-month-old boy with cyclic neutropenia due to heterozygous, novel ELANE gene mutation p.Q97P, c.290 A>C. ( 25019553 )
2014
13
Retraction. Aprikyan AAG, Liles WC, Rodger E, Jonas M, Chi EY, Dale DC. Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia. Blood. 2001;97(1):147-153. ( 24994067 )
2014
14
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. ( 24105461 )
2013
15
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. ( 23463630 )
2013
16
Cyclic neutropenia presenting as recurrent oral ulcers and periodontitis. ( 23855177 )
2013
17
Severe periodontitis in a patient with cyclic neutropenia: a case report of long-term follow-up. ( 23509838 )
2012
18
A case of cyclic neutropenia in adults. ( 22764469 )
2012
19
Repeated lentivirus-mediated granulocyte colony-stimulating factor administration to treat canine cyclic neutropenia. ( 22845776 )
2012
20
Chronic refractory uveitis in a patient with childhood-onset cyclic neutropenia. ( 21677883 )
2011
21
A case report of cyclic neutropenia associated with pyoderma gangrenosum. ( 22131249 )
2011
22
Cyclic neutropenia. ( 21394127 )
2011
23
Cyclic neutropenia in a cleft lip and palate patient: a case report. ( 21309694 )
2011
24
A novel 60 kDa reactivity in cyclic neutropenia: high titer cytoplasmic ANCA immunostaining pattern and negative anti-proteinase-3 antibody. ( 21094072 )
2011
25
A case of systemic amyloidosis associated with cyclic neutropenia. ( 21161286 )
2011
26
Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. ( 20582973 )
2010
27
Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE. ( 20560965 )
2010
28
Image of the month. Albinism, cyclic neutropenia, and ceroid pigment in the liver. ( 19554547 )
2009
29
The effect of recombinant granulocyte colony-stimulating factor on oral and periodontal manifestations in a patient with cyclic neutropenia: a case report. ( 20339570 )
2009
30
[Cyclic neutropenia: a de novo case and treatment with G-CSF]. ( 19268636 )
2009
31
Cyclic neutropenia in animals. ( 19208418 )
2009
32
Progenitor cell self-renewal and cyclic neutropenia. ( 19397594 )
2009
33
Fever of unknown origin (FUO) due to cyclic neutropenia with relative bradycardia. ( 19577707 )
2009
34
Invasive candidal laryngitis as a manifestation of cyclic neutropenia in an Omani infant. ( 18484479 )
2008
35
Cyclic neutropenia in mammals. ( 18951469 )
2008
36
Quiz. Cyclic neutropenia. ( 17953059 )
2007
37
An adult dog with cyclic neutropenia treated by lentivirus- mediated delivery of granulocyte colony-stimulating factor. ( 16610934 )
2006
38
A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia. ( 16079102 )
2005
39
A comparison of cyclic neutropenia in childhood and severe congenital neutropenia. ( 16079089 )
2005
40
[Cyclic neutropenia with anti-NA2 antibodies and treatment with recombinant granulocyte colony-stimulating factor]. ( 16045884 )
2005
41
Immunoglobulin A nephropathy associated with cyclic neutropenia. ( 15960156 )
2005
42
Enteritis necroticans with recurrent enterocutaneous fistulae caused by Clostridium perfringens in a child with cyclic neutropenia. ( 14734887 )
2004
43
Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia. ( 15576359 )
2004
44
Clinical and laboratory findings in Iranian children with cyclic neutropenia. ( 17301390 )
2004
45
Treatment of canine cyclic neutropenia by lentivirus-mediated G-CSF delivery. ( 12750178 )
2003
46
Noma-like gangrenous cheilitis in a child with cyclic neutropenia associated with myeloperoxidase deficiency. ( 14651574 )
2003
47
Oral manifestations of cyclic neutropenia in a Japanese child: case report with a 5-year follow-up. ( 13678105 )
2003
48
Cyclic neutropenia. ( 11957190 )
2002
49
Cyclic neutropenia and pyomyositis: a rare cause of overwhelming sepsis. ( 11890621 )
2002
50
Adult T-cell leukemia with cyclic neutropenia in a seronegative patient carrying only the tax gene of HTLV-I. ( 12353317 )
2002
Sources

Variations for Cyclic Neutropenia

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

76 (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

ClinVar genetic disease variations for Cyclic Neutropenia:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 ELANE NM_001972.3(ELANE): c.598-3C> G single nucleotide variant Likely pathogenic rs730880095 GRCh38 Chromosome 19, 855955: 855955
2 ELANE NM_001972.3(ELANE): c.598-3C> G single nucleotide variant Likely pathogenic rs730880095 GRCh37 Chromosome 19, 855955: 855955
3 ELANE NM_001972.3(ELANE): c.52G> C (p.Ala18Pro) single nucleotide variant Likely pathogenic rs797045007 GRCh37 Chromosome 19, 852380: 852380
4 ELANE NM_001972.3(ELANE): c.52G> C (p.Ala18Pro) single nucleotide variant Likely pathogenic rs797045007 GRCh38 Chromosome 19, 852380: 852380
5 ELANE NM_001972.3(ELANE): c.659G> A (p.Arg220Gln) single nucleotide variant Pathogenic rs137854445 GRCh37 Chromosome 19, 856019: 856019
6 ELANE NM_001972.3(ELANE): c.659G> A (p.Arg220Gln) single nucleotide variant Pathogenic rs137854445 GRCh38 Chromosome 19, 856019: 856019
7 ELANE NM_001972.3(ELANE): c.618G> T (p.Leu206Phe) single nucleotide variant Pathogenic rs137854446 GRCh37 Chromosome 19, 855978: 855978
8 ELANE NM_001972.3(ELANE): c.618G> T (p.Leu206Phe) single nucleotide variant Pathogenic rs137854446 GRCh38 Chromosome 19, 855978: 855978
9 ELANE NM_001972.3(ELANE): c.182C> T (p.Ala61Val) single nucleotide variant Pathogenic rs137854447 GRCh37 Chromosome 19, 852990: 852990
10 ELANE NM_001972.3(ELANE): c.182C> T (p.Ala61Val) single nucleotide variant Pathogenic rs137854447 GRCh38 Chromosome 19, 852990: 852990
11 ELANE NM_001972.2(ELANE): c.377C> T (p.Ser126Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs137854450 GRCh37 Chromosome 19, 855574: 855574
12 ELANE NM_001972.2(ELANE): c.377C> T (p.Ser126Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs137854450 GRCh38 Chromosome 19, 855574: 855574
13 ELANE NM_001972.3(ELANE): c.606C> T (p.Ser202=) single nucleotide variant Benign/Likely benign rs17216649 GRCh37 Chromosome 19, 855966: 855966
14 ELANE NM_001972.3(ELANE): c.606C> T (p.Ser202=) single nucleotide variant Benign/Likely benign rs17216649 GRCh38 Chromosome 19, 855966: 855966
15 ELANE NM_001972.3(ELANE): c.655G> A (p.Val219Ile) single nucleotide variant Benign/Likely benign rs17216656 GRCh38 Chromosome 19, 856015: 856015
16 ELANE NM_001972.3(ELANE): c.655G> A (p.Val219Ile) single nucleotide variant Benign/Likely benign rs17216656 GRCh37 Chromosome 19, 856015: 856015
17 ELANE NM_001972.2(ELANE): c.785C> T (p.Pro262Leu) single nucleotide variant Benign/Likely benign rs17216670 GRCh38 Chromosome 19, 856145: 856145
18 ELANE NM_001972.2(ELANE): c.785C> T (p.Pro262Leu) single nucleotide variant Benign/Likely benign rs17216670 GRCh37 Chromosome 19, 856145: 856145
19 ELANE NM_001972.3(ELANE): c.598-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201117839 GRCh38 Chromosome 19, 855957: 855957
20 ELANE NM_001972.3(ELANE): c.598-1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201117839 GRCh37 Chromosome 19, 855957: 855957
21 ELANE NM_001972.3(ELANE): c.597+1G> A single nucleotide variant Pathogenic rs1555710005 GRCh37 Chromosome 19, 855795: 855795
22 ELANE NM_001972.3(ELANE): c.597+1G> A single nucleotide variant Pathogenic rs1555710005 GRCh38 Chromosome 19, 855795: 855795
23 ELANE NM_001972.3(ELANE): c.597+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs879253882 GRCh38 Chromosome 19, 855799: 855799
24 ELANE NM_001972.3(ELANE): c.597+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs879253882 GRCh37 Chromosome 19, 855799: 855799
25 ELANE NM_001972.3(ELANE): c.99C> T (p.Gly33=) single nucleotide variant Benign rs17216628 GRCh38 Chromosome 19, 852907: 852907
26 ELANE NM_001972.3(ELANE): c.99C> T (p.Gly33=) single nucleotide variant Benign rs17216628 GRCh37 Chromosome 19, 852907: 852907
27 ELANE NM_001972.3(ELANE): c.171C> T (p.Ala57=) single nucleotide variant Benign/Likely benign rs201224981 GRCh38 Chromosome 19, 852979: 852979
28 ELANE NM_001972.3(ELANE): c.171C> T (p.Ala57=) single nucleotide variant Benign/Likely benign rs201224981 GRCh37 Chromosome 19, 852979: 852979
29 ELANE NM_001972.2(ELANE): c.390C> T (p.Asn130=) single nucleotide variant Benign rs17223045 GRCh37 Chromosome 19, 855587: 855587
30 ELANE NM_001972.2(ELANE): c.390C> T (p.Asn130=) single nucleotide variant Benign rs17223045 GRCh38 Chromosome 19, 855587: 855587
31 ELANE NM_001972.3(ELANE): c.654C> T (p.Phe218=) single nucleotide variant Benign/Likely benign rs148492780 GRCh37 Chromosome 19, 856014: 856014
32 ELANE NM_001972.3(ELANE): c.654C> T (p.Phe218=) single nucleotide variant Benign/Likely benign rs148492780 GRCh38 Chromosome 19, 856014: 856014
33 ELANE NM_001972.2(ELANE): c.770C> T (p.Pro257Leu) single nucleotide variant Benign/Likely benign rs17216663 GRCh38 Chromosome 19, 856130: 856130
34 ELANE NM_001972.2(ELANE): c.770C> T (p.Pro257Leu) single nucleotide variant Benign/Likely benign rs17216663 GRCh37 Chromosome 19, 856130: 856130
35 ELANE NM_001972.3(ELANE): c.119C> T (p.Ala40Val) single nucleotide variant Uncertain significance rs1555709342 GRCh38 Chromosome 19, 852927: 852927
36 ELANE NM_001972.3(ELANE): c.119C> T (p.Ala40Val) single nucleotide variant Uncertain significance rs1555709342 GRCh37 Chromosome 19, 852927: 852927
37 ELANE NM_001972.3(ELANE): c.16C> A (p.Arg6=) single nucleotide variant Benign rs182347433 GRCh38 Chromosome 19, 852344: 852344
38 ELANE NM_001972.3(ELANE): c.16C> A (p.Arg6=) single nucleotide variant Benign rs182347433 GRCh37 Chromosome 19, 852344: 852344
39 ELANE NM_001972.3(ELANE): c.174C> T (p.Thr58=) single nucleotide variant Likely benign rs199714513 GRCh38 Chromosome 19, 852982: 852982
40 ELANE NM_001972.3(ELANE): c.174C> T (p.Thr58=) single nucleotide variant Likely benign rs199714513 GRCh37 Chromosome 19, 852982: 852982
41 ELANE NM_001972.3(ELANE): c.24G> C (p.Ala8=) single nucleotide variant Likely benign rs199901033 GRCh37 Chromosome 19, 852352: 852352
42 ELANE NM_001972.3(ELANE): c.24G> C (p.Ala8=) single nucleotide variant Likely benign rs199901033 GRCh38 Chromosome 19, 852352: 852352
43 ELANE NM_001972.3(ELANE): c.38C> G (p.Ala13Gly) single nucleotide variant Uncertain significance rs756726256 GRCh37 Chromosome 19, 852366: 852366
44 ELANE NM_001972.3(ELANE): c.38C> G (p.Ala13Gly) single nucleotide variant Uncertain significance rs756726256 GRCh38 Chromosome 19, 852366: 852366
45 ELANE NM_001972.3(ELANE): c.172A> C (p.Thr58Pro) single nucleotide variant Uncertain significance rs1555709360 GRCh37 Chromosome 19, 852980: 852980
46 ELANE NM_001972.3(ELANE): c.172A> C (p.Thr58Pro) single nucleotide variant Uncertain significance rs1555709360 GRCh38 Chromosome 19, 852980: 852980
47 ELANE NM_001972.3(ELANE): c.235G> C (p.Ala79Pro) single nucleotide variant Uncertain significance rs769123461 GRCh37 Chromosome 19, 853272: 853272
48 ELANE NM_001972.3(ELANE): c.235G> C (p.Ala79Pro) single nucleotide variant Uncertain significance rs769123461 GRCh38 Chromosome 19, 853272: 853272
49 ELANE NM_001972.3(ELANE): c.378G> A (p.Ser126=) single nucleotide variant Uncertain significance rs202204133 GRCh38 Chromosome 19, 855575: 855575
50 ELANE NM_001972.3(ELANE): c.378G> A (p.Ser126=) single nucleotide variant Uncertain significance rs202204133 GRCh37 Chromosome 19, 855575: 855575
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 all 39)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 67
Show member pathways
 13.77 CSF2 CSF3 ELANE IFNG IL1B IL3
2
Akt Signaling 65
Show member pathways
 13.18 CSF2 CSF3 IL1B IL3 KITLG
3
PAK Pathway 65
Show member pathways
 13.09 CSF2 CSF3 IL1B IL3 KITLG
4
Cytokine Signaling in Immune system 67
Show member pathways
 13.06 CSF2 CSF3 IFNG IL1B IL3 KITLG
5
PI3K-Akt signaling pathway 38
Show member pathways
 12.78 CSF3 G6PC3 IL3 KITLG
6
NF-kappaB Signaling 4
12.38 IFNG IL1B IL3 KITLG
7
Immune response Role of DAP12 receptors in NK cells 23
Show member pathways
 12.32 CSF2 IFNG IL3
8
T cell receptor signaling pathway 38
Show member pathways
 12.24 CSF2 IFNG IL1B
9
JAK-STAT signaling pathway (KEGG) 66
Show member pathways
 12.2 CSF2 CSF3 IFNG IL3
10
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.09 IFNG IL1B IL3 KITLG
11
Transcriptional misregulation in cancer 38
12.08 CSF2 ELANE IL3
12
IL-17 Family Signaling Pathways 66
Show member pathways
 12.04 CSF2 CSF3 IFNG IL1B
13
Immune response IFN gamma signaling pathway 23
Show member pathways
 11.91 IFNG IL1B IL3 KITLG
14
Microglia Activation During Neuroinflammation: Overview 66
Show member pathways
 11.89 CSF2 IFNG IL1B
15
Senescence and Autophagy in Cancer 1
11.81 IFNG IL1B IL3
16
Amoebiasis 38
11.76 CSF2 IFNG IL1B
17
Rheumatoid arthritis 38
11.73 CSF2 IFNG IL1B
18
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.72 CSF2 CSF3 IFNG IL3 KITLG
19
Salmonella infection (KEGG) 38
11.69 CSF2 IFNG IL1B
20
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.61 CSF2 IFNG IL3
21
Dendritic Cells Developmental Lineage Pathway 66
11.59 CSF2 IFNG IL1B
22
Microglia Activation During Neuroinflammation: Microglia Polarization 66
11.55 CSF2 IFNG IL1B
23
Hematopoietic cell lineage 38
11.54 CSF2 CSF3 IL1B IL3 KITLG
24
Lung fibrosis 1
11.49 CSF2 CSF3 IL1B
25
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.47 CSF2 IFNG IL1B
26
Aryl Hydrocarbon Receptor Pathway 1
11.36 IFNG IL1B
27
Differentiation Pathway 1
11.36 IL3 KITLG
28
MSP-RON Signaling 65
11.35 IFNG IL1B
29
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.32 IFNG IL1B
30
Interleukin-10 signaling 67
11.32 CSF2 CSF3 IL1B
31
Malaria 38
11.3 CSF3 IFNG IL1B
32
Type II interferon signaling (IFNG) 1
11.23 IFNG IL1B
33
African trypanosomiasis 38
11.22 IFNG IL1B
34
Development and heterogeneity of the ILC family 1
11.16 IFNG IL1B
35
IL1 and megakaryocytes in obesity 1
11.04 IFNG IL1B
36
Hematopoietic Stem Cell Differentiation 1
11.03 CSF2 CSF3 IL1B IL3 KITLG
37
G-protein signaling_RhoB regulation pathway 23
10.85 CSF2 CSF3 IL1B IL3
38
G-protein signaling_Rap2B regulation pathway 23
10.67 CSF2 CSF3 IL1B IL3 KITLG
39
Cytokines and Inflammatory Response 1
10.48 CSF2 CSF3 IFNG IL1B IL3
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 region GO:0005576 9.5 CSF2 CSF3 ELANE IFNG IL1B IL3
2 extracellular space GO:0005615 9.17 CSF2 CSF3 ELANE IFNG IL1B IL3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.71 CSF2 CSF3 IL1B IL3
2 cellular response to lipopolysaccharide GO:0071222 9.7 CSF2 CSF3 IL1B
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.65 CSF3 IL3 KITLG
4 MAPK cascade GO:0000165 9.62 CSF2 IL1B IL3 KITLG
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.61 CSF2 IFNG IL3
6 positive regulation of nitric oxide biosynthetic process GO:0045429 9.56 IFNG IL1B
7 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.55 CSF2 IL1B
8 immune response GO:0006955 9.55 CSF2 CSF3 IFNG IL1B IL3
9 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.54 IL1B KITLG
10 embryonic hemopoiesis GO:0035162 9.51 IL3 KITLG
11 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.49 IFNG IL1B
12 ectopic germ cell programmed cell death GO:0035234 9.46 IL1B KITLG
13 positive regulation of cell proliferation GO:0008284 9.43 CSF2 CSF3 IFNG IL1B IL3 KITLG
14 positive regulation of interleukin-23 production GO:0032747 9.37 CSF2 IFNG
15 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.26 IFNG IL1B
16 regulation of signaling receptor activity GO:0010469 9.1 CSF2 CSF3 IFNG IL1B IL3 KITLG

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 CSF2 IL3 KITLG
2 growth factor activity GO:0008083 9.26 CSF2 CSF3 IL3 KITLG
3 cytokine activity GO:0005125 9.1 CSF2 CSF3 IFNG IL1B IL3 KITLG
Sources

Sources for Cyclic Neutropenia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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