Neutropenia, Cyclic

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Neutropenia, Cyclic

MalaCards integrated aliases for Neutropenia, Cyclic:

Name: Neutropenia, Cyclic 54 13
Cyclic Neutropenia 12 50 24 25 71 42 69
Cyclic Hematopoiesis 12 50 24 14
Cyclical Neutropenia 12 29
Periodic Neutropenia 24 25
Cyclic Hematopoesis 25 69
Neutropenia Cyclic 50 52
Cyclic Agranulocytosis 12
Neutropenia, Periodic 12
Cyclic Haematopoiesis 71
Cyclic Leucopenia 25
Ch 71



autosomal dominant


neutropenia, cyclic:
Inheritance autosomal dominant inheritance


Summaries for Neutropenia, Cyclic

NIH Rare Diseases : 50 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). last updated: 5/18/2016

MalaCards based summary : Neutropenia, Cyclic, also known as cyclic neutropenia, is related to congenital hypothyroidism and chediak-higashi syndrome, and has symptoms including neutropenia, recurrent respiratory infections and thrombocytopenia. An important gene associated with Neutropenia, Cyclic is ELANE (Elastase, Neutrophil Expressed), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Lenograstim and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include breast, neutrophil and bone.

UniProtKB/Swiss-Prot : 71 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.

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.

OMIM : 54
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)

Wikipedia : 72 Cyclic neutropenia (or cyclical neutropenia) is a form of neutropenia, a white blood cell deficiency,... more...

Related Diseases for Neutropenia, Cyclic

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

(show top 50) (show all 87)
id Related Disease Score Top Affiliating Genes
1 congenital hypothyroidism 11.6
2 chediak-higashi syndrome 11.4
3 dentin dysplasia, type i, with microdontia and misshapen teeth 11.0
4 central hypoventilation syndrome, congenital 11.0
5 cluster headache 10.8
6 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 10.8
7 propionicacidemia 10.8
8 2p16.1-p15 deletion syndrome 10.3 CSF3 ELANE
9 focal embolic glomerulonephritis 10.3 ELANE TGFB1
10 pyridoxine deficiency 10.2 ELANE TGFB1
11 cholera 10.2 ELANE TGFB1
12 middle lobe syndrome 10.2 ELANE TGFB1
13 brain injury 10.1 IL3 TGFB1
14 hypothyroidism 10.0
15 enterovesical fistula 9.9 CSF2 CSF3
16 primary systemic mycosis 9.9 CSF2 CSF3
17 labyrinthine bilateral reactive loss 9.9 CSF2 ELANE
18 peripheral nervous system neoplasm 9.9 CSF2 CSF3
19 sideroblastic anemia 9.8 CSF2 IL3
20 zika virus congenital syndrome 9.8 CSF2 CSF3
21 atherosclerosis 9.8
22 blood coagulation disease 9.8 CSF2 CSF3
23 cystic adventitial disease 9.8 CSF2 IL3
24 deafness, autosomal recessive 62 9.8 CSF2 ELANE
25 adenoid squamous cell carcinoma 9.8 CSF3 ELANE
26 spontaneous ocular nystagmus 9.8 CSF2 ELANE
27 lymphocytic gastritis 9.8 CSF2 IL3
28 congenital nystagmus 9.8 CSF2 CSF3
29 acute chest syndrome 9.8 CSF2 ELANE
30 endocardium cancer 9.7 CSF2 IL3
31 bronchitis 9.7
32 thyroiditis 9.7
33 granulomatous hepatitis 9.7 CSF2 IL3
34 acute myocardial infarction 9.7 CSF2 CSF3
35 myelofibrosis with myeloid metaplasia, somatic 9.7 CSF3 IL3 TGFB1
36 microcystic adenoma 9.7 CSF2 IL3
37 neutropenia 9.6
38 tendinosis 9.6 CSF3 IL3
39 spinocerebellar ataxia, autosomal recessive 21 9.6 CSF3 ELANE IL3
40 sinusitis 9.6
41 influenza 9.6
42 artery disease 9.6
43 heroin dependence 9.6
44 atrial fibrillation 9.6
45 diarrhea 9.6
46 hydrops fetalis 9.6
47 hypoxia 9.6
48 breast cancer 9.6
49 neuroendocrine tumor 9.6
50 myoclonus 9.6

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

Diseases related to Neutropenia, Cyclic

Symptoms & Phenotypes for Neutropenia, Cyclic

Symptoms via clinical synopsis from OMIM:


mucosal ulcers

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

cyclic neutropenia

Clinical features from OMIM:


Human phenotypes related to Neutropenia, Cyclic:

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 neutropenia 32 hallmark (90%) HP:0001875
2 recurrent respiratory infections 32 occasional (7.5%) HP:0002205
3 thrombocytopenia 32 occasional (7.5%) HP:0001873
4 anemia 32 hallmark (90%) HP:0001903
5 fatigue 32 hallmark (90%) HP:0012378
6 fever 32 HP:0001945
7 abdominal pain 32 occasional (7.5%) HP:0002027
8 lymphadenopathy 32 occasional (7.5%) HP:0002716
9 recurrent skin infections 32 hallmark (90%) HP:0001581
10 recurrent aphthous stomatitis 32 occasional (7.5%) HP:0011107
11 periodontitis 32 frequent (33%) HP:0000704
12 sepsis 32 hallmark (90%) HP:0100806
13 carious teeth 32 occasional (7.5%) HP:0000670
14 abnormality of the mouth 32 HP:0000153
15 abnormality of eosinophils 32 occasional (7.5%) HP:0001879
16 oral ulcer 32 hallmark (90%) HP:0000155
17 overlapping toe 32 hallmark (90%) HP:0001845

Drugs & Therapeutics for Neutropenia, Cyclic

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

(show top 50) (show all 230)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Lenograstim Approved Phase 4,Phase 3,Phase 2,Phase 1 135968-09-1
Cisplatin Approved Phase 4,Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 50-18-0, 6055-19-2 2907
Doxorubicin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 23214-92-8 31703
Epirubicin Approved Phase 4,Phase 2,Phase 3,Phase 1 56420-45-2 41867
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
Diphenhydramine Approved Phase 4,Phase 3 58-73-1, 147-24-0 3100
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
Granisetron Approved, Investigational Phase 4 109889-09-0 3510
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 83-43-2 6741
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
Ondansetron Approved Phase 4,Phase 3 99614-02-5 4595
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 50-24-8 5755
Promethazine Approved Phase 4,Phase 3 60-87-7 4927
Ranitidine Approved Phase 4 66357-59-3, 66357-35-5 3001055
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 53-03-2 5865
Fluorouracil Approved Phase 4,Phase 3,Phase 2,Phase 1 51-21-8 3385
Oxaliplatin Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 61825-94-3 5310940 9887054 43805 6857599
Etoposide Approved Phase 4,Phase 3,Phase 1,Phase 2 33419-42-0 36462
Gemcitabine Approved Phase 4,Phase 3,Phase 2,Phase 1 95058-81-4 60750
Methotrexate Approved Phase 4,Phase 2 1959-05-2, 59-05-2 126941
Vincristine Approved, Investigational Phase 4,Phase 2 2068-78-2, 57-22-7 5978
Irinotecan Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 97682-44-5, 100286-90-6 60838
Cytarabine Approved, Investigational Phase 4,Phase 3 147-94-4 6253
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 143 6006
Docetaxel Approved May 1996, Investigational Phase 4,Phase 3,Phase 2,Phase 1 114977-28-5 148124 9877265
Doxil Approved June 1999 Phase 4,Phase 2,Phase 3,Phase 1 31703
30 Dexchlorpheniramine Experimental Phase 4 25523-97-1
Camptothecin Experimental Phase 4,Phase 1,Phase 2 7689-03-4
32 Adjuvants, Immunologic Phase 4,Phase 3,Phase 2,Phase 1
33 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1
34 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
35 Topoisomerase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
36 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
37 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Phase 1
38 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
39 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 3,Phase 1
40 Antineoplastic Agents, Phytogenic Phase 4,Phase 3,Phase 2,Phase 1
41 Alkylating Agents Phase 4,Phase 2,Phase 3,Phase 1
42 Antimitotic Agents Phase 4,Phase 2,Phase 3,Phase 1
43 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1
44 Anesthetics Phase 4,Phase 3
45 Anesthetics, Local Phase 4,Phase 3
46 Antacids Phase 4
47 Anti-Allergic Agents Phase 4
48 Anti-Anxiety Agents Phase 4
49 Antiemetics Phase 4,Phase 3,Phase 2,Phase 1
50 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 165)

id Name Status NCT ID Phase Drugs
1 FIRST - Study of Pegfilgrastim Administered in the First and Subsequent Cycles of Myelosuppressive Chemotherapy Completed NCT00125723 Phase 4
2 An Expanded Access Program of Pegfilgrastim (Neulastim) in Participants With Non-Hodgkin's Lymphoma (NHL) Completed NCT02782845 Phase 4 Chemotherapy;Immunochemotherapy;Pegfilgrastim
3 PEG-rhG-CSF in Patients With Breast Cancer Receiving Chemotherapy Completed NCT02805153 Phase 4 PEG-rhG-CSF;rhG-CSF
4 PEG-rhG-CSF in Patients With Breast Cancer Receiving Chemotherapy to Prevent Neutropenia Completed NCT02805205 Phase 4 PEG-rhG-CSF
5 A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer Completed NCT00277160 Phase 4 Neulasta (pegfilgrastim)
6 Combination of Cabazitaxel With Prednisolone With Primary Prophylaxis With PEG-G-CSF in Treatment of Patients With Prostate Cancer Completed NCT02441894 Phase 4 CABAZITAXEL XRP6258;PEG-G-CSF;Prednisolone;Dexchlorpheniramine or Diphenhydramine;Ranitidine;Metoclopramide, Granisetron, or Ondansetron;Dexamethasone
7 PEG-rhG-CSF in Patients With Malignant Solid Tumors Receiving Chemotherapy Completed NCT02805166 Phase 4 PEG-rhG-CSF
8 Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer Completed NCT01649635 Phase 4 CABAZITAXEL (XRP6258);Prednisone;Ciprofloxacin;G-CSF (Granulocyte colony-stimulating factor)
9 PEG-rhG-CSF in Patients With Lymphoma Receiving Chemotherapy Completed NCT02805218 Phase 4 PEG-rhG-CSF
10 Safety of Orectalip® (Oxaliplatin) as Adjuvant Treatment for High-risk Stage-Ⅱ Colorectal Cancer Completed NCT02284529 Phase 4 Orectalip
11 PEG-rhG-CSF in Patients With Non-Hodgkin Lymphoma Receiving Chemotherapy to Prevent Neutropenia Recruiting NCT02996617 Phase 4 rhG-CSF regimen;Pegylated rhG-CSF regimen
12 Granulocyte-colony Stimulating Factors or Antibiotics for Primary Prophylaxis for Febrile Neutropenia Recruiting NCT02816112 Phase 4 Ciprofloxacin;Neupogen
13 A Study to Compare Administration Schedules of G-CSF (Filgrastim) for Primary Prophylaxis of Febrile Neutropenia Recruiting NCT02816164 Phase 4 Neupogen
14 Investigation of Association Between UGT1A1 Polymorphisms and Irinotecan Toxicity in Korean Patients Active, not recruiting NCT01271582 Phase 4 Irinotecan, 5FU, leucovorin
15 Multicenter Study of Pharmacokinetic-Guided Docetaxel in Breast Cancer Patients Receiving Docetaxel and Cyclophosphamide Active, not recruiting NCT02502864 Phase 4 Standard of Care: Docetaxel;Standard of Care: Cyclophosphamide
16 To Evaluate the Efficacy and Safety of PEG-rhG-CSF(Jinyouli®) in Reducing Neutropenia in Patients With Cervical Cancer Not yet recruiting NCT03206684 Phase 4 PEG-rhG-CSF;rhG-CSF
17 A Study of Pegylated rhG-CSF as Support to Advanced Non-Small-Cell Lung Cancer (NSCLC) Patients Receiving Chemotherapy Receiving Chemotherapy Unknown status NCT01560195 Phase 3 Pegylated rhG-CSF: 100µg/kg;Pegylated rhG-CSF: 6mg;placebo and rhG-CSF 5ug/kg/d
18 Study of Suitable Schedule of Docetaxel,Anthracycline and Cyclophosphamide in Adjuvant Therapy of Beast Cancer Unknown status NCT00525642 Phase 2, Phase 3 Docetaxel, Doxorubicin or Epirubicin, Cyclophosphamide;Docetaxel, Doxorubicin or Epirubicin, Cyclophosphamide
19 Safety Study of Individual Paclitaxel Dose Adjustment Based on Pharmacokinetics in Non-Small Cell Lung Cancer (NSCLC) Unknown status NCT02058433 Phase 3
20 Therapeutic Effect and Safety Study of Decitabine in Elderly Acute Myeloid Leukemia Patients Unknown status NCT01633099 Phase 3 Decitabine
21 Phase III Study of DA-3031(PEG-G-CSF) in Chemotherapy-induced Neutropenia Completed NCT01674855 Phase 3 PEG-G-CSF;G-CSF
22 GCPGC in Chemotherapy-induced Neutropenia Completed NCT01328938 Phase 2, Phase 3
23 A Study Comparing Pegylated rhG-CSF and rhG-CSF as Support to Breast Cancer Patients Receiving Chemotherapy Completed NCT01611051 Phase 3 Drug: Pegylated rhG-CSF: 100µg/kg;Pegylated rhG-CSF: 6mg;rhG-CSF 5ug/kg/day
24 Phase III Study Comparing the Efficacy and Safety of LA-EP2006 and Peg-Filgrastim Completed NCT01516736 Phase 3 LA-EP2006;Neulasta®
25 Phase III Study Comparing the Efficacy and Safety of LA-EP2006 and Neulasta® Completed NCT01735175 Phase 3 LA-EP2006;Neulasta®
26 PAVES: Pegfilgrastim Anti-vascular Endothelial Growth Factor (VEGF) Evaluation Study Completed NCT00911170 Phase 3 Pegfilgrastim;Placebo;Standard Chemotherapy
27 Central European Society for Anticancer Research (CESAR) Study of Paclitaxel Therapeutic Drug Monitoring Completed NCT01326767 Phase 3 Paclitaxel dosing according to SmPC;Individualized pharmacokinetically driven paclitaxel dosing
28 A Non-inferiority Study Comparing Two Filgrastim Preparations in Breast Cancer Completed NCT01079676 Phase 3 Filgrastim (Eurofarma);Filgrastim (Granulokine, Amgen)
29 Treatment for Elderly Patients With High Risk Breast Cancer Completed NCT00117910 Phase 3 pegfilgrastim
30 Neugranin in Breast Cancer Patients Receiving Doxorubicin/Docetaxel Completed NCT00837265 Phase 2, Phase 3 Pegfilgrastim;Chemotherapy
31 Phase III Study Comparing the Efficacy and Safety of EP2006 and Filgrastim Completed NCT01519700 Phase 3 EP2006;Filgrastim
32 A Study Comparing Pegylated Filgrastim and Filgrastim in Support for Chemotherapy Completed NCT01285219 Phase 3 pegylated filgrastim and filgrastim;filgrastim and pegylated filgrastim
33 Safety and Efficacy Trial of Recombinant Human Granulocyte Colony Stimulating Factor (GCSF) Completed NCT00776165 Phase 3
34 Efficacy and Safety Study With MYL-1401H and Neulasta Completed NCT02467868 Phase 3
35 Neugranin in Breast Cancer Patients Receiving Doxorubicin/Docetaxel (NEUGR-003) Completed NCT01126190 Phase 3 Chemotherapy
36 Study of the Efficacy and Safety of Empegfilgrastim for Neutropenia Prophylaxis in Breast Cancer Patients Completed NCT02104830 Phase 3
37 A Prospective, Randomized, Phase III Trial of FLAC (5-Fluorouracil, Leucovorin, Adriamycin, Cytoxan) Chemotherapy With GM-CSF (Granulocyte-Macrophage Colony-Stimulating Factor) Versus PIXY 321 in Advanced Breast Cancer Completed NCT00001338 Phase 3 FLAC chemotherapy with GM-CSF
38 Trial of SPI-2012 Versus Pegfilgrastim in the Management of Chemotherapy Induced Neutropenia in Early- Stage BReast Cancer Patients Receiving Docetaxel and Cyclophosphamide (RECOVER) Recruiting NCT02953340 Phase 3 SPI-2012;Pegfilgrastim;Docetaxel;Cyclophosphamide
39 Placebo-controlled Trial of F-627 in Women With Breast Cancer Receiving Myelotoxic Chemotherapy Recruiting NCT02872103 Phase 3 F-627;Placebo
40 Plinabulin vs. Pegfilgrastim in Patients With Solid Tumors Receiving Docetaxel Myelosuppressive Chemotherapy Recruiting NCT03102606 Phase 2, Phase 3 Plinabulin;Pegfilgrastim
41 Trial Evaluating the Safety of 2 Schedules of Cabazitaxel in Elderly Men With mCRPC Previously Treated With a Docetaxel Recruiting NCT02961257 Phase 3 cabazitaxel;Prednisone;Granulocyte colony-stimulating factor (G-CSF)
42 Randomized Phase III Study of Decitabine +/- Hydroxyurea (HY) Versus HY in Advanced Proliferative CMML Recruiting NCT02214407 Phase 3 Decitabine;HYDROXYUREA
44 Assessment of Docetaxel + Plinabulin Compared to Docetaxel + Placebo in Patients With Advanced NSCLC With at Least One Measurable Lung Lesion Recruiting NCT02504489 Phase 3 Docetaxel + Plinabulin (DP);Docetaxel (D)
45 Clinical Trial on Ganoderma Spore Lipids Combined With Chemo in Patients With G.I. Cancers Recruiting NCT02785523 Phase 3 Ganoderma Spore Lipids;Placebo;Chemotherapy
46 RAnDomized Trial of SPI-2012 Versus Pegfilgrastim in the Management of Chemotherapy Induced Neutropenia in Breast CANCEr Patients Receiving Docetaxel and Cyclophosphamide Active, not recruiting NCT02643420 Phase 3 SPI-2012;Pegfilgrastim
47 A comparatiVe Study on Efficacy and Safety of Lipegfilgrastim in Comparison to Pegfilgrastim in Elderly Patients With Aggressive B Cell Non-HOdgkin Lymphomas at hIgh Risk for R-CHOP-21-inDuced Neutropenia Active, not recruiting NCT02044276 Phase 3 lipegfilgrastim;pegfilgrastim
48 Folfoxiri Plus Bev Followed by Reintroduction of Folfoxiri Plus Bev at Progression Versus Folfox Plus Bev Followed by Folfiri Plus Bev in mCRC Active, not recruiting NCT02339116 Phase 3 fluoruracil;Oxaliplatin;Irinotecan;Bevacizumab
49 Patient Preference Between Cabazitaxel and Docetaxel in Metastatic Castrate-resistant Prostate Cancer Active, not recruiting NCT02044354 Phase 3 Taxotere;Jevtana
50 Study of Low-Dose Cytarabine and Etoposide With or Without All-Trans Retinoic Acid in Older Patients Not Eligible for Intensive Chemotherapy With Acute Myeloid Leukemia and NPM1 Mutation Active, not recruiting NCT01237808 Phase 3 Cytarabine;Etoposide;All-trans retinoic acid (ATRA)

Search NIH Clinical Center for Neutropenia, Cyclic

Cochrane evidence based reviews: cyclic neutropenia

Genetic Tests for Neutropenia, Cyclic

Genetic tests related to Neutropenia, Cyclic:

id Genetic test Affiliating Genes
1 Cyclical Neutropenia 29
2 Cyclic Neutropenia 24 ELANE

Anatomical Context for Neutropenia, Cyclic

MalaCards organs/tissues related to Neutropenia, Cyclic:

Breast, Neutrophil, Bone, Lung, Monocytes, Bone Marrow, Myeloid

Publications for Neutropenia, Cyclic

Variations for Neutropenia, Cyclic

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

71 (show all 17)
id Symbol AA change Variation ID SNP ID
1 ELANE p.Ser126Leu VAR_038619 rs137854450
2 ELANE p.Pro139Leu VAR_038620 rs28929493
3 ELANE p.Phe43Leu VAR_070697
4 ELANE p.Val45Leu VAR_070700
5 ELANE p.Ser46Phe VAR_070702
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
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 Neutropenia, Cyclic:

id Gene Variation Type Significance SNP ID Assembly Location
1 ELANE NM_001972.3(ELANE): c.659G> A (p.Arg220Gln) single nucleotide variant Pathogenic rs137854445 GRCh37 Chromosome 19, 856019: 856019
2 ELANE NM_001972.3(ELANE): c.618G> T (p.Leu206Phe) single nucleotide variant Pathogenic rs137854446 GRCh37 Chromosome 19, 855978: 855978
3 ELANE NM_001972.3(ELANE): c.182C> T (p.Ala61Val) single nucleotide variant Pathogenic rs137854447 GRCh37 Chromosome 19, 852990: 852990
4 ELANE ELANE, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
5 ELANE ELANE, IVS4DS, G-A, +5 single nucleotide variant Pathogenic
6 ELANE NM_001972.3(ELANE): c.598-3C> G single nucleotide variant Likely pathogenic rs730880095 GRCh38 Chromosome 19, 855955: 855955
7 ELANE NM_001972.3(ELANE): c.52G> C (p.Ala18Pro) single nucleotide variant Likely pathogenic rs797045007 GRCh37 Chromosome 19, 852380: 852380
8 ELANE NM_001972.3(ELANE): c.598-1G> A single nucleotide variant Pathogenic rs201117839 GRCh38 Chromosome 19, 855957: 855957

Expression for Neutropenia, Cyclic

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

Pathways for Neutropenia, Cyclic

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

(show all 24)
id Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
13.25 CSF2 CSF3 IL3 TGFB1
Show member pathways
13.01 CSF2 CSF3 IL3 TGFB1
Show member pathways
12.97 CSF2 CSF3 IL3 TGFB1
Show member pathways
12.88 CSF2 CSF3 IL3 TGFB1
6 11.86 CSF2 ELANE IL3
Show member pathways
11.82 CSF2 CSF3 IL3
8 11.64 IL3 TGFB1
9 11.61 CSF2 CSF3 IL3
10 11.59 CSF2 TGFB1
11 11.55 CSF2 TGFB1
12 11.48 CSF2 CSF3 IL3
Show member pathways
11.46 CSF2 IL3
14 11.46 CSF2 TGFB1
Show member pathways
11.4 CSF2 CSF3 TGFB1
16 11.24 CSF2 CSF3
17 11.23 CSF3 TGFB1
18 11.21 IL3 TGFB1
19 11.13 CSF2 CSF3 TGFB1
Show member pathways
11.1 CSF2 TGFB1
21 11 CSF2 TGFB1
22 10.86 CSF2 CSF3 IL3
23 10.81 CSF2 CSF3 IL3
24 10.4 CSF2 CSF3 IL3 TGFB1

GO Terms for Neutropenia, Cyclic

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.35 CSF2 CSF3 ELANE IL3 TGFB1
2 secretory granule GO:0030141 9.16 ELANE TGFB1
3 extracellular space GO:0005615 9.02 CSF2 CSF3 ELANE IL3 TGFB1

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.63 CSF2 CSF3 IL3
2 cellular calcium ion homeostasis GO:0006874 9.51 ELANE TGFB1
3 MAPK cascade GO:0000165 9.5 CSF2 IL3 TGFB1
4 positive regulation of protein kinase B signaling GO:0051897 9.49 CSF3 TGFB1
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.48 CSF3 TGFB1
6 positive regulation of cell proliferation GO:0008284 9.46 CSF2 CSF3 IL3 TGFB1
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 CSF2 IL3
8 positive regulation of MAP kinase activity GO:0043406 9.4 ELANE TGFB1
9 positive regulation of DNA replication GO:0045740 9.37 CSF2 IL3
10 myeloid dendritic cell differentiation GO:0043011 9.26 CSF2 TGFB1
11 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.13 CSF3 IL3 TGFB1
12 neutrophil differentiation GO:0030223 8.32 CSF2

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

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 CSF2 CSF3 IL3 TGFB1
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.16 CSF2 IL3
3 growth factor activity GO:0008083 8.92 CSF2 CSF3 IL3 TGFB1

Sources for Neutropenia, Cyclic

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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