MCID: SVR003
MIFTS: 58

Severe Congenital Neutropenia

Categories: Blood diseases, Rare diseases, Genetic diseases, Bone diseases, Immune diseases, Nephrological diseases

Aliases & Classifications for Severe Congenital Neutropenia

MalaCards integrated aliases for Severe Congenital Neutropenia:

Name: Severe Congenital Neutropenia 38 12 25 29 6 15 73
Congenital Neutropenia 25 29 6
Severe Infantile Genetic Neutropenia 25
Infantile Genetic Agranulocytosis 25
Neutropenia, Severe Congenital 55
Congenital Agranulocytosis 25
Kostmann's Agranulocytosis 25
Kostmann's Syndrome 25
Kostmanns Syndrome 55
Kostmann Disease 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050590
ICD10 33 D70
UMLS 73 C1853118

Summaries for Severe Congenital Neutropenia

Genetics Home Reference : 25 Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture. In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood.

MalaCards based summary : Severe Congenital Neutropenia, also known as congenital neutropenia, is related to severe congenital neutropenia autosomal dominant and neutropenia, severe congenital, 1, autosomal dominant. An important gene associated with Severe Congenital Neutropenia is CSF3R (Colony Stimulating Factor 3 Receptor), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Busulfan and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone, neutrophil and bone marrow, and related phenotypes are cellular and hematopoietic system

Disease Ontology : 12 A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.

Wikipedia : 76 Kostmann syndrome is a group of diseases that affect myelopoiesis, causing a congenital form of... more...

Related Diseases for Severe Congenital Neutropenia

Diseases in the Neutropenia family:

Neutropenia, Chronic Familial Neutropenia, Severe Congenital, 1, Autosomal Dominant
Neutropenia, Severe Congenital, 3, Autosomal Recessive Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Severe Congenital, 2, Autosomal Dominant Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Severe Congenital, 6, Autosomal Recessive Neutropenia, Severe Congenital, 7, Autosomal Recessive
Severe Congenital Neutropenia Elane-Related Neutropenia
Severe Congenital Neutropenia Autosomal Dominant

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

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 severe congenital neutropenia autosomal dominant 34.2 ELANE GFI1 TCIRG1
2 neutropenia, severe congenital, 1, autosomal dominant 32.4 ELANE TCIRG1
3 cyclic neutropenia 29.9 CSF2 CSF3 ELANE IL3
4 pancytopenia 29.6 CSF2 CSF3 IL3
5 leukemia 28.9 CSF2 CSF3R JAK2 PTPN11 RUNX1
6 myeloid leukemia 28.1 CSF2 CSF3R IL3 JAK2 PTPN11 RUNX1
7 neutropenia 27.4 CSF2 CSF3 CSF3R ELANE G6PC3 GFI1
8 leukemia, acute myeloid 26.5 CSF2 CSF3 CSF3R GFI1 IL3 JAK2
9 myelodysplastic syndrome 26.1 CSF2 CSF3 CSF3R IL3 JAK2 KITLG
10 neutropenia, severe congenital, 3, autosomal recessive 12.1
11 autosomal recessive severe congenital neutropenia due to cxcr2 deficiency 12.1
12 neutropenia, severe congenital, x-linked 12.0
13 neutropenia, severe congenital, 5, autosomal recessive 11.7
14 neutropenia, severe congenital, 7, autosomal recessive 11.6
15 neutropenia, severe congenital, 6, autosomal recessive 11.3
16 neutropenia, severe congenital, 4, autosomal recessive 11.2
17 neutropenia, severe congenital, 2, autosomal dominant 11.2
18 reticular dysgenesis 11.0
19 zygomycosis 10.7 CSF3 ELANE
20 engraftment syndrome 10.4 CSF2 CSF3
21 seborrheic infantile dermatitis 10.3 CSF2 IL3
22 trichosporonosis 10.3 CSF2 CSF3
23 myelophthisic anemia 10.2 JAK2 PTPN11
24 aggressive systemic mastocytosis 10.1 KITLG PTPN11
25 retinitis pigmentosa and erythrocytic microcytosis 10.1 IL3 JAK2
26 hematopoietic stem cell transplantation 10.1
27 hemorrhagic disease 10.0 CSF3 JAK2 WAS
28 neutrophilia, hereditary 10.0 CSF2 CSF3R JAK2
29 osteoporosis 10.0
30 leukemia, acute lymphoblastic 10.0
31 lymphoblastic leukemia 10.0
32 periodontitis 10.0
33 g6pc3 deficiency 9.9
34 felty syndrome 9.9 CSF2 CSF3 ELANE IL3
35 eosinophilic gastroenteritis 9.9 CSF2 IL3
36 primary polycythemia 9.9 IL3 JAK2
37 atypical chronic myeloid leukemia 9.8 CSF3R JAK2 RUNX1
38 mastoiditis 9.8
39 chronic neutrophilic leukemia 9.8
40 core binding factor acute myeloid leukemia 9.8 CSF3 JAK2 RUNX1
41 acute lymphocytic leukemia 9.8 CSF2 CSF3 RUNX1
42 thrombocytosis 9.8 CSF2 IL3 JAK2
43 refractory anemia 9.7 IL3 JAK2 RUNX1
44 leukocyte adhesion deficiency, type i 9.7
45 leukemia, acute monocytic 9.7
46 myelofibrosis 9.7
47 immunodeficiency with hyper-igm, type 1 9.7
48 chronic granulomatous disease 9.7
49 chronic myelomonocytic leukemia 9.7
50 glomerulonephritis 9.7

Graphical network of the top 20 diseases related to Severe Congenital Neutropenia:



Diseases related to Severe Congenital Neutropenia

Symptoms & Phenotypes for Severe Congenital Neutropenia

MGI Mouse Phenotypes related to Severe Congenital Neutropenia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 WAS LEF1 PTPN11 RUNX1 TCIRG1 GFI1
2 hematopoietic system MP:0005397 10.22 PTPN11 RUNX1 TCIRG1 WAS LEF1 GFI1
3 endocrine/exocrine gland MP:0005379 10.18 WAS LEF1 PTPN11 RUNX1 TCIRG1 GFI1
4 immune system MP:0005387 10.16 LEF1 PTPN11 RUNX1 TCIRG1 WAS GFI1
5 mortality/aging MP:0010768 9.97 LEF1 PTPN11 RUNX1 TCIRG1 GFI1 BIRC5
6 neoplasm MP:0002006 9.5 WAS PTPN11 RUNX1 CSF2 JAK2 ELANE
7 skeleton MP:0005390 9.28 WAS LEF1 PTPN11 RUNX1 TCIRG1 HAX1

Drugs & Therapeutics for Severe Congenital Neutropenia

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

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 55-98-1 2478
2
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3,Early Phase 1 24356-66-9 32326 21704
4
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1,Not Applicable 216503-57-0
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1 50-18-0, 6055-19-2 2907
6
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
7 Alkylating Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
8 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Early Phase 1
9 Antilymphocyte Serum Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
10 Antimetabolites Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
11 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3,Phase 1,Early Phase 1
12 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
13 Antiviral Agents Phase 2, Phase 3,Phase 3,Early Phase 1
14 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable,Early Phase 1
15 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Not Applicable,Early Phase 1
16 Adjuvants, Immunologic Phase 2, Phase 3
17
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
18
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
19
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
20
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
21
Melphalan Approved Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1 148-82-3 4053 460612
22
Thiotepa Approved, Investigational Phase 1, Phase 2,Not Applicable 52-24-4 5453
23
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1,Not Applicable 128794-94-5 5281078
24
Mycophenolic acid Approved Phase 2,Phase 1,Not Applicable 24280-93-1 446541
25
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
26
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
27
Tacrolimus Approved, Investigational Phase 1, Phase 2,Phase 2 104987-11-3 445643 439492
28
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
30
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
31 Antiemetics Phase 2,Phase 1
32 Antifungal Agents Phase 2
33 Anti-Inflammatory Agents Phase 2,Phase 1
34 Antineoplastic Agents, Hormonal Phase 2,Phase 1
35 Autonomic Agents Phase 2,Phase 1
36 Calcineurin Inhibitors Phase 2,Phase 1
37 Cyclosporins Phase 2,Phase 1
38 Dermatologic Agents Phase 2,Not Applicable
39 Folic Acid Antagonists Phase 2
40 Gastrointestinal Agents Phase 2,Phase 1
41 glucocorticoids Phase 2,Phase 1
42 Hormone Antagonists Phase 2,Phase 1
43 Hormones Phase 2,Phase 1
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
45 Methylprednisolone acetate Phase 2,Phase 1
46 Methylprednisolone Hemisuccinate Phase 2,Phase 1
47 Neuroprotective Agents Phase 2,Phase 1
48 Nucleic Acid Synthesis Inhibitors Phase 2
49 Peripheral Nervous System Agents Phase 2,Phase 1
50 Prednisolone acetate Phase 2,Phase 1

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Bone Marrow Failure Syndromes Completed NCT00176878 Phase 2, Phase 3 Fludarabine monophosphate;Busulfan
2 Stem Cell Transplant for Hemoglobinopathy Active, not recruiting NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide
3 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
4 Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
5 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remi Completed NCT00305708 Phase 1, Phase 2 busulfan;fludarabine phosphate
6 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
7 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2 Thiotepa;Cyclophosphamide;Alemtuzumab;Tacrolimus;Melphalan;Busulfan;Fludarabine;Methylprednisolone
8 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
9 Donor Stem Cell Transplant in Treating Young Patients With Myelodysplastic Syndrome, Leukemia, Bone Marrow Failure Syndrome, or Severe Immunodeficiency Disease Completed NCT00295971 Phase 1 fludarabine phosphate;thiotepa
10 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
11 Screening for Genes in Patients With Congenital Neutropenia Completed NCT02866162
12 Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias Completed NCT00244010 Not Applicable
13 Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders Completed NCT00005893 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide
14 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274
15 CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1
16 Fludarabine Based RIC for Bone Marrow Failure Syndromes Recruiting NCT02928991 Early Phase 1
17 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
18 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359 Not Applicable Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
19 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851 Not Applicable Alefacept

Search NIH Clinical Center for Severe Congenital Neutropenia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Severe Congenital Neutropenia cell therapies at LifeMap Discovery.

Genetic Tests for Severe Congenital Neutropenia

Genetic tests related to Severe Congenital Neutropenia:

# Genetic test Affiliating Genes
1 Severe Congenital Neutropenia 29
2 Congenital Neutropenia 29

Anatomical Context for Severe Congenital Neutropenia

MalaCards organs/tissues related to Severe Congenital Neutropenia:

41
Bone, Neutrophil, Bone Marrow, Liver, Myeloid, Skin, Lung

Publications for Severe Congenital Neutropenia

Articles related to Severe Congenital Neutropenia:

(show top 50) (show all 250)
# Title Authors Year
1
Successful second hematopoietic cell transplantation in severe congenital neutropenia. ( 29076228 )
2018
2
Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution. ( 29956078 )
2018
3
Identification of novel <i>MECOM</i> gene fusion and personalized therapeutic targets through integrative clinical sequencing in secondary acute myeloid leukemia in a patient with severe congenital neutropenia: a case report and literature review. ( 29572239 )
2018
4
Mutations in <i>SRP54</i> gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome. ( 29914977 )
2018
5
Pyoderma Gangrenosum Secondary to Severe Congenital Neutropenia. ( 29707446 )
2018
6
Novel Gene Mutation in a Chinese Boy with Severe Congenital Neutropenia. ( 29744746 )
2018
7
A Truncated G-CSFR Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: Implication for Understanding CSF3R Mutations in Severe Congenital Neutropenia. ( 28073911 )
2017
8
A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis. ( 28453180 )
2017
9
Granulocyte colony-stimulating factor receptor signaling in severe congenital neutropenia, chronic neutrophilic leukemia, and related malignancies. ( 27789332 )
2017
10
A GCSFR/CSF3R zebrafish mutant models the persistent basal neutrophil deficiency of severe congenital neutropenia. ( 28281657 )
2017
11
A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear. ( 26808373 )
2016
12
Long-term use of Pegfilgrastim in children with severe congenital neutropenia: clinical and pharmacokinetic data. ( 27621310 )
2016
13
Gangrenous appendicitis in a patient with severe congenital neutropenia. ( 27804250 )
2016
14
Successful non-myeloablative allogenic bone marrow transplantation in a child with severe congenital neutropenia complicated by chronic pulmonary infection. ( 27384854 )
2016
15
Case Reports of Severe Congenital Neutropenia Treated With Unrelated Cord Blood Transplantation With Reduced-intensity Conditioning. ( 26599988 )
2016
16
A novel ELANE gene mutation in a patient with severe congenital neutropenia and intermittent thrombocytopenia. ( 25882539 )
2015
17
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation. ( 26358756 )
2015
18
JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family. ( 25851723 )
2015
19
Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report. ( 25705433 )
2015
20
Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia. ( 26174650 )
2015
21
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-I^ deficiency. ( 25492228 )
2015
22
Lethal sepsis and malignant transformation in severe congenital neutropenia: Report from the Italian Neutropenia Registry. ( 25619745 )
2015
23
Recurrence of Neonatal Lupus Post-Cord Blood Transplant for Severe Congenital Neutropenia. ( 26195545 )
2015
24
Genetic analysis and clinical picture of severe congenital neutropenia in Israel. ( 25284454 )
2015
25
HSCT in severe congenital neutropenia. ( 26472738 )
2015
26
Game of clones: the genomic evolution of severe congenital neutropenia. ( 26637693 )
2015
27
Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. ( 26185129 )
2015
28
Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene. ( 24616599 )
2014
29
Inherited biallelic CSF3R mutations in severe congenital neutropenia. ( 24753537 )
2014
30
Sea-blue histiocytes in the bone marrow of a boy with severe congenital neutropenia associated with G6PC3 mutation. ( 24446813 )
2014
31
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations. ( 25391451 )
2014
32
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. ( 24523240 )
2014
33
Successful treatment with allogenic hematopoietic stem cell transplantation of a severe congenital neutropenia patient harboring a novel ELANE mutation. ( 25501410 )
2014
34
Genetic correction of HAX1 in induced pluripotent stem cells from a patient with severe congenital neutropenia improves defective granulopoiesis. ( 23975175 )
2014
35
Severe congenital neutropenia: new lane for ELANE. ( 24458273 )
2014
36
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry. ( 25491320 )
2014
37
Allogeneic stem cell transplantation for patients with acute myeloid leukaemia developing from severe congenital neutropenia. ( 24422727 )
2014
38
Severe congenital neutropenia with a novel ELANE mutation in 2 Mexican patients. ( 25219109 )
2014
39
A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome. ( 24750412 )
2014
40
Clinical Characteristics of Severe Congenital Neutropenia caused by Novel ELANE Gene Mutations. ( 25162927 )
2014
41
G6PC3 mutations cause non-syndromic severe congenital neutropenia. ( 23298686 )
2013
42
A novel phenotype variant of severe congenital neutropenia caused by G6PC3 deficiency. ( 23441086 )
2013
43
Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders. ( 24341138 )
2013
44
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. ( 24105461 )
2013
45
Resolution of Inflammatory Colitis With Pegfilgrastim Treatment in a Case of Severe Congenital Neutropenia Due to Glucose 6 Phosphatase Catalytic Subunit-3 Deficiency. ( 24322501 )
2013
46
Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease? ( 23050867 )
2013
47
Successful haploidentical PBSCT with subsequent T-cell addbacks in a boy with HyperIgM syndrome presenting as severe congenital neutropenia. ( 22928961 )
2013
48
Granulocyte colony-stimulating factor receptor signaling: implications for G-CSF responses and leukemic progression in severe congenital neutropenia. ( 23351988 )
2013
49
Pro-B acute lymphoblastic leukemia in a patient with severe congenital neutropenia: an unusual form of malignant evolution. ( 23391142 )
2013
50
A novel G6PC3 gene mutation in a patient with severe congenital neutropenia. ( 23018568 )
2013

Variations for Severe Congenital Neutropenia

ClinVar genetic disease variations for Severe Congenital Neutropenia:

6
(show top 50) (show all 190)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCIRG1 NM_006019.3(TCIRG1): c.2206C> A (p.Arg736Ser) single nucleotide variant Pathogenic rs587779413 GRCh37 Chromosome 11, 67817691: 67817691
2 TCIRG1 NM_006019.3(TCIRG1): c.2206C> A (p.Arg736Ser) single nucleotide variant Pathogenic rs587779413 GRCh38 Chromosome 11, 68050224: 68050224
3 JAGN1 NM_032492.3(JAGN1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587777727 GRCh38 Chromosome 3, 9890725: 9890725
4 JAGN1 NM_032492.3(JAGN1): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587777727 GRCh37 Chromosome 3, 9932409: 9932409
5 JAGN1 NM_032492.3(JAGN1): c.130C> T (p.His44Tyr) single nucleotide variant Pathogenic rs587777728 GRCh37 Chromosome 3, 9934639: 9934639
6 JAGN1 NM_032492.3(JAGN1): c.130C> T (p.His44Tyr) single nucleotide variant Pathogenic rs587777728 GRCh38 Chromosome 3, 9892955: 9892955
7 JAGN1 NM_032492.3(JAGN1): c.63G> T (p.Glu21Asp) single nucleotide variant Pathogenic rs587777729 GRCh38 Chromosome 3, 9890785: 9890785
8 JAGN1 NM_032492.3(JAGN1): c.63G> T (p.Glu21Asp) single nucleotide variant Pathogenic rs587777729 GRCh37 Chromosome 3, 9932469: 9932469
9 JAGN1 NM_032492.3(JAGN1): c.485A> G (p.Gln162Arg) single nucleotide variant Pathogenic rs587777730 GRCh38 Chromosome 3, 9893310: 9893310
10 JAGN1 NM_032492.3(JAGN1): c.485A> G (p.Gln162Arg) single nucleotide variant Pathogenic rs587777730 GRCh37 Chromosome 3, 9934994: 9934994
11 JAGN1 NM_032492.3(JAGN1): c.35_43delCCGACGGCA (p.Thr12_Gly14del) deletion Pathogenic rs587777731 GRCh38 Chromosome 3, 9890757: 9890765
12 JAGN1 NM_032492.3(JAGN1): c.35_43delCCGACGGCA (p.Thr12_Gly14del) deletion Pathogenic rs587777731 GRCh37 Chromosome 3, 9932441: 9932449
13 CSF3R NM_156039.3(CSF3R): c.1245delG (p.Thr416Profs) deletion Pathogenic rs606231474 GRCh38 Chromosome 1, 36471473: 36471473
14 CSF3R NM_156039.3(CSF3R): c.1245delG (p.Thr416Profs) deletion Pathogenic rs606231474 GRCh37 Chromosome 1, 36937074: 36937074
15 CSF3R NM_156039.3(CSF3R): c.948_963del16 (p.His317Alafs) deletion Pathogenic rs606231475 GRCh38 Chromosome 1, 36472272: 36472287
16 CSF3R NM_156039.3(CSF3R): c.948_963del16 (p.His317Alafs) deletion Pathogenic rs606231475 GRCh37 Chromosome 1, 36937873: 36937888
17 CSF3R NM_000760.3(CSF3R): c.922C> T (p.Arg308Cys) single nucleotide variant Pathogenic rs606231473 GRCh38 Chromosome 1, 36472313: 36472313
18 CSF3R NM_000760.3(CSF3R): c.922C> T (p.Arg308Cys) single nucleotide variant Pathogenic rs606231473 GRCh37 Chromosome 1, 36937914: 36937914
19 JAGN1 NM_032492.3(JAGN1): c.40G> A (p.Gly14Ser) single nucleotide variant Pathogenic rs786205704 GRCh37 Chromosome 3, 9932446: 9932446
20 JAGN1 NM_032492.3(JAGN1): c.40G> A (p.Gly14Ser) single nucleotide variant Pathogenic rs786205704 GRCh38 Chromosome 3, 9890762: 9890762
21 JAGN1 NM_032492.3(JAGN1): c.59G> A (p.Arg20Gln) single nucleotide variant Pathogenic rs777966677 GRCh37 Chromosome 3, 9932465: 9932465
22 JAGN1 NM_032492.3(JAGN1): c.59G> A (p.Arg20Gln) single nucleotide variant Pathogenic rs777966677 GRCh38 Chromosome 3, 9890781: 9890781
23 JAGN1 NM_032492.3(JAGN1): c.297C> G (p.Tyr99Ter) single nucleotide variant Pathogenic rs786205705 GRCh37 Chromosome 3, 9934806: 9934806
24 JAGN1 NM_032492.3(JAGN1): c.297C> G (p.Tyr99Ter) single nucleotide variant Pathogenic rs786205705 GRCh38 Chromosome 3, 9893122: 9893122
25 GFI1 NM_005263.3(GFI1): c.465C> T (p.Cys155=) single nucleotide variant Benign rs11164605 GRCh37 Chromosome 1, 92946479: 92946479
26 GFI1 NM_005263.3(GFI1): c.465C> T (p.Cys155=) single nucleotide variant Benign rs11164605 GRCh38 Chromosome 1, 92480922: 92480922
27 G6PC3 NM_138387.3(G6PC3): c.*2T> C single nucleotide variant Conflicting interpretations of pathogenicity rs113416399 GRCh37 Chromosome 17, 42153413: 42153413
28 G6PC3 NM_138387.3(G6PC3): c.*2T> C single nucleotide variant Conflicting interpretations of pathogenicity rs113416399 GRCh38 Chromosome 17, 44076045: 44076045
29 HAX1 NM_006118.3(HAX1): c.53+14C> T single nucleotide variant Likely benign rs115683875 GRCh37 Chromosome 1, 154245266: 154245266
30 HAX1 NM_006118.3(HAX1): c.53+14C> T single nucleotide variant Likely benign rs115683875 GRCh38 Chromosome 1, 154272790: 154272790
31 HAX1 NM_006118.3(HAX1): c.159T> C (p.Ser53=) single nucleotide variant Likely benign rs13796 GRCh37 Chromosome 1, 154245917: 154245917
32 HAX1 NM_006118.3(HAX1): c.159T> C (p.Ser53=) single nucleotide variant Likely benign rs13796 GRCh38 Chromosome 1, 154273441: 154273441
33 GFI1 NM_005263.3(GFI1): c.1047C> T (p.Phe349=) single nucleotide variant Benign/Likely benign rs80337126 GRCh38 Chromosome 1, 92478631: 92478631
34 GFI1 NM_005263.3(GFI1): c.1047C> T (p.Phe349=) single nucleotide variant Benign/Likely benign rs80337126 GRCh37 Chromosome 1, 92944188: 92944188
35 GFI1 NM_005263.3(GFI1): c.648A> G (p.Ala216=) single nucleotide variant Benign rs114464352 GRCh38 Chromosome 1, 92480739: 92480739
36 GFI1 NM_005263.3(GFI1): c.648A> G (p.Ala216=) single nucleotide variant Benign rs114464352 GRCh37 Chromosome 1, 92946296: 92946296
37 GFI1 NM_005263.3(GFI1): c.319C> G (p.Pro107Ala) single nucleotide variant Likely benign rs149914857 GRCh38 Chromosome 1, 92481068: 92481068
38 GFI1 NM_005263.3(GFI1): c.319C> G (p.Pro107Ala) single nucleotide variant Likely benign rs149914857 GRCh37 Chromosome 1, 92946625: 92946625
39 GFI1 NM_005263.3(GFI1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs143913803 GRCh37 Chromosome 1, 92948551: 92948551
40 GFI1 NM_005263.3(GFI1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs143913803 GRCh38 Chromosome 1, 92482994: 92482994
41 GFI1 NM_005263.3(GFI1): c.107G> A (p.Ser36Asn) single nucleotide variant Benign rs34631763 GRCh38 Chromosome 1, 92483381: 92483381
42 GFI1 NM_005263.3(GFI1): c.107G> A (p.Ser36Asn) single nucleotide variant Benign rs34631763 GRCh37 Chromosome 1, 92948938: 92948938
43 G6PC3 NM_138387.3(G6PC3): c.381G> A (p.Thr127=) single nucleotide variant Benign rs3815076 GRCh37 Chromosome 17, 42152103: 42152103
44 G6PC3 NM_138387.3(G6PC3): c.381G> A (p.Thr127=) single nucleotide variant Benign rs3815076 GRCh38 Chromosome 17, 44074735: 44074735
45 HAX1 NM_006118.3(HAX1): c.-53delC deletion Likely benign rs886045319 GRCh38 Chromosome 1, 154272671: 154272671
46 HAX1 NM_006118.3(HAX1): c.-53delC deletion Likely benign rs886045319 GRCh37 Chromosome 1, 154245147: 154245147
47 HAX1 NM_006118.3(HAX1): c.137G> C (p.Arg46Pro) single nucleotide variant Uncertain significance rs761500862 GRCh38 Chromosome 1, 154273419: 154273419
48 HAX1 NM_006118.3(HAX1): c.137G> C (p.Arg46Pro) single nucleotide variant Uncertain significance rs761500862 GRCh37 Chromosome 1, 154245895: 154245895
49 HAX1 NM_006118.3(HAX1): c.593C> T (p.Pro198Leu) single nucleotide variant Uncertain significance rs146152769 GRCh38 Chromosome 1, 154275190: 154275190
50 HAX1 NM_006118.3(HAX1): c.593C> T (p.Pro198Leu) single nucleotide variant Uncertain significance rs146152769 GRCh37 Chromosome 1, 154247666: 154247666

Expression for Severe Congenital Neutropenia

Search GEO for disease gene expression data for Severe Congenital Neutropenia.

Pathways for Severe Congenital Neutropenia

Pathways related to Severe Congenital Neutropenia according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 BIRC5 CSF2 CSF3 CSF3R ELANE IL3
2
Show member pathways
13.28 CSF2 CSF3 CSF3R IL3 JAK2 KITLG
3
Show member pathways
13.14 BIRC5 CSF2 CSF3 CSF3R IL3 JAK2
4
Show member pathways
12.97 CSF2 CSF3 CSF3R IL3 JAK2 KITLG
5
Show member pathways
12.77 CSF3 CSF3R G6PC3 IL3 JAK2 KITLG
6
Show member pathways
12.7 BIRC5 CSF2 IL3 LEF1 PTPN11 RUNX1
7 12.59 BIRC5 CSF3R IL3 JAK2 KITLG LEF1
8
Show member pathways
12.44 CSF2 CSF3 CSF3R IL3 JAK2 PTPN11
9 12.43 IL3 JAK2 KITLG RUNX1
10
Show member pathways
12.38 CSF2 IL3 PTPN11 WAS
11 12.13 CSF2 ELANE IL3 RUNX1
12
Show member pathways
12.04 IL3 JAK2 KITLG PTPN11
13
Show member pathways
12 CSF2 IL3 JAK2 PTPN11
14
Show member pathways
11.94 IL3 JAK2 KITLG PTPN11
15 11.92 IL3 KITLG RUNX1
16
Show member pathways
11.82 IL3 JAK2 PTPN11
17
Show member pathways
11.74 CSF2 CSF3 JAK2
18 11.74 CSF3R IL3 JAK2 PTPN11
19 11.65 ELANE KITLG LEF1
20 11.62 CSF2 CSF3 CSF3R IL3 KITLG
21 11.59 G6PC3 JAK2 PTPN11
22 11.43 BIRC5 LEF1 PTPN11
23 11.34 BIRC5 JAK2 PTPN11
24 11.34 CSF2 CSF3 CSF3R IL3 KITLG
25 11.11 CSF2 CSF3 IL3
26 10.7 CSF2 CSF3 IL3 KITLG RUNX1

GO Terms for Severe Congenital Neutropenia

Biological processes related to Severe Congenital Neutropenia according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.83 CSF2 IL3 JAK2 KITLG
2 positive regulation of protein kinase B signaling GO:0051897 9.76 CSF3 HAX1 KITLG PTPN11
3 cellular response to lipopolysaccharide GO:0071222 9.74 CSF2 CSF3 GFI1
4 cytokine-mediated signaling pathway GO:0019221 9.7 BIRC5 CSF2 CSF3 CSF3R IL3 JAK2
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.69 CSF3 HAX1 JAK2
6 cellular response to cytokine stimulus GO:0071345 9.67 CSF3 HAX1 LEF1 PTPN11
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.65 CSF2 IL3 JAK2
8 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.65 CSF3 HAX1 IL3 JAK2 KITLG
9 positive regulation of DNA replication GO:0045740 9.61 CSF2 IL3 KITLG
10 regulation of myeloid cell differentiation GO:0045637 9.58 CSF2 CSF3R RUNX1
11 positive regulation of actin cytoskeleton reorganization GO:2000251 9.56 CSF3 HAX1
12 positive regulation of cell proliferation GO:0008284 9.56 BIRC5 CSF2 CSF3 IL3 JAK2 KITLG
13 embryonic hemopoiesis GO:0035162 9.55 IL3 KITLG
14 interleukin-6-mediated signaling pathway GO:0070102 9.54 JAK2 PTPN11
15 positive regulation of granulocyte differentiation GO:0030854 9.5 HAX1 LEF1 RUNX1
16 regulation of cytokine-mediated signaling pathway GO:0001959 9.49 IL3 RUNX1
17 neutrophil differentiation GO:0030223 8.92 CSF2 CSF3 JAGN1 LEF1

Molecular functions related to Severe Congenital Neutropenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 CSF2 CSF3 IL3 KITLG
2 phospholipase binding GO:0043274 9.37 PTPN11 WAS
3 insulin receptor substrate binding GO:0043560 9.32 JAK2 PTPN11
4 peptide hormone receptor binding GO:0051428 9.26 JAK2 PTPN11
5 growth factor activity GO:0008083 9.26 CSF2 CSF3 IL3 KITLG
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.92 CSF2 IL3 JAK2 KITLG

Sources for Severe Congenital Neutropenia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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