MCID: SVR003
MIFTS: 53

Severe Congenital Neutropenia malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Severe Congenital Neutropenia

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Genetics Home Reference:21 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 severe infantile genetic neutropenia, is related to severe congenital neutropenia autosomal recessive 3 and neutropenia. An important gene associated with Severe Congenital Neutropenia is GFI1 (growth factor independent 1 transcription repressor), and among its related pathways are Selected targets of C EBPalpha and Transcriptional misregulation in cancer. The compounds pegfilgrastim and fmlp have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone and liver, and related mouse phenotypes are mortality/aging and cellular.

Disease Ontology:8 A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.

Descriptions from OMIM:46 610738, 612541, 615285, 613107, 202700 300299 more

Aliases & Classifications for Severe Congenital Neutropenia

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Severe Congenital Neutropenia, Aliases & Descriptions:

Name: Severe Congenital Neutropenia 30 8 20 21 10 62
Severe Infantile Genetic Neutropenia 21 62
Infantile Genetic Agranulocytosis 21 62
Kostmann's Agranulocytosis 21 62
Congenital Agranulocytosis 21 62
 
Congenital Neutropenia 21 62
Kostmann Disease 21 62
Neutropenia, Severe Congenital 44
Kostmann's Syndrome 21
Kostmanns Syndrome 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


External Ids:

Disease Ontology8 DOID:0050590

Related Diseases for Severe Congenital Neutropenia

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Diseases in the Severe Congenital Neutropenia family:

Neutropenia Elane-Related Neutropenia
Neutropenia Chronic Familial Gata1-Related Neutropenia
Susceptibility to Neutropenia Due to Mercaptopurine Treatment Susceptibility to Neutropenia Due to Azathioprine Treatment

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1severe congenital neutropenia autosomal recessive 330.7CSF3R, ELANE
2neutropenia30.5HAX1, GFI1, G6PC3, WAS, ELANE, CSF3R
3leukemia10.8
4acute myeloid leukemia10.5
5myeloid leukemia10.5
6severe congenital neutropenia x-linked10.5
7severe congenital neutropenia, autosomal recessive, 410.5
8acute lymphoblastic leukemia10.4
9hematopoietic stem cell transplantation10.4
10osteoporosis10.4
11lymphoblastic leukemia10.4
12periodontitis10.4
13severe congenital neutropenia autosomal dominant10.4
14severe congenital neutropenia, autosomal dominant, 210.4
15neutropenia, severe congenital 1, autosomal dominant10.4
16neutropenia, severe congenital, 6, autosomal recessive10.2
17sepsis10.2
18wiskott-aldrich syndrome10.1
19acute monocytic leukemia10.1
20chronic granulomatous disease10.1
21chronic myelomonocytic leukemia10.1
22glomerulonephritis10.1
23hepatitis10.1
24myelodysplastic syndromes10.1
25orchitis10.1
26leukocyte adhesion deficiency10.1
27rapidly progressive glomerulonephritis10.1
28pancytopenia10.1
29colitis10.1
30epididymo-orchitis10.1
31laryngitis10.1
32monocytic leukemia10.1
33periodontal disease10.1
34pneumonia10.1
35vasculitis10.1
36sickle cell disease10.1
37chronic neutrophilic leukemia10.1
38hemangioendothelioma10.1
39idiopathic neutropenia10.1
40neutropenia, severe congenital, 5, autosomal recessive10.1
41acute basophilic leukemia10.1
42gas gangrene10.0
43reticular dysgenesis10.0
44gingivitis10.0
45acute myelomonocytic leukemia10.0
46granulocytopenia10.0
47myelofibrosis10.0
48obesity10.0
49proctitis10.0
50hermansky pudlak syndrome 210.0

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



Diseases related to severe congenital neutropenia

Symptoms for Severe Congenital Neutropenia

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Clinical features from OMIM:

610738,612541,615285,613107,202700,300299

Drugs & Therapeutics for Severe Congenital Neutropenia

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Drug clinical trials:

Search ClinicalTrials for Severe Congenital Neutropenia

Search NIH Clinical Center for Severe Congenital Neutropenia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Severe Congenital Neutropenia cell therapies at LifeMap Discovery.

Genetic Tests for Severe Congenital Neutropenia

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Genetic tests related to Severe Congenital Neutropenia:

id Genetic test Affiliating Genes
1 Severe Congenital Neutropenia20

Anatomical Context for Severe Congenital Neutropenia

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MalaCards organs/tissues related to Severe Congenital Neutropenia:

32
Neutrophil, Bone, Liver, Lung, Skin, Myeloid, Bone marrow, Monocytes, T cells

Animal Models for Severe Congenital Neutropenia or affiliated genes

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MGI Mouse Phenotypes related to Severe Congenital Neutropenia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.1HAX1, GFI1, G6PC3, ELANE, CEBPE
2MP:00053847.5CSF3R, CEBPE, WAS, GFI1, HAX1
3MP:00053976.7HAX1, CSF3R, CEBPE, ELANE, WAS, G6PC3
4MP:00053876.6HAX1, GFI1, G6PC3, WAS, ELANE, CEBPE

Publications for Severe Congenital Neutropenia

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Articles related to Severe Congenital Neutropenia:

(show top 50)    (show all 219)
idTitleAuthorsYear
1
Severe congenital neutropenia with a novel ELANE mutation in 2 Mexican patients. (25219109)
2014
2
A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome. (24750412)
2014
3
A novel G6PC3 gene mutation in a patient with severe congenital neutropenia. (23018568)
2013
4
A novel compound heterozygous HAX1 mutation in a Chinese patient with severe congenital neutropenia and chronic myelomonocytic leukemia transformation but without neurodevelopmental abnormalities. (22102707)
2012
5
Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia. (22371884)
2012
6
Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving. (22758217)
2012
7
Prevention and control of infections in patients with severe congenital neutropenia; a follow up study. (22427476)
2012
8
Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. (21219176)
2011
9
Novel ELANE gene mutation in a Korean girl with severe congenital neutropenia. (22148006)
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. (20582973)
2010
11
Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia. (23056709)
2010
12
A novel HAX1 gene mutation in severe congenital neutropenia (SCN) associated with neurological manifestations. (20182745)
2010
13
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia. (20065084)
2010
14
Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. (19120359)
2009
15
Novel genetic etiologies of severe congenital neutropenia. (19782549)
2009
16
A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. (19696212)
2009
17
Unrelated cord blood transplantation for severe congenital neutropenia: report of two cases with very different transplant courses. (18433408)
2008
18
Necrosis of nasal cartilage due to mucormycosis in a patient with severe congenital neutropenia due to HAX1 deficiency. (19123440)
2008
19
Severe congenital neutropenia and the unfolded protein response. (18043239)
2008
20
Lymphadenopathy as the primary manifestation of malignant transformation in two patients with severe congenital neutropenia. (18213714)
2008
21
Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia. (18513286)
2008
22
Severe congenital neutropenia: new genes explain an old disease. (17917547)
2007
23
Gut overgrowth of vancomycin-resistant enterococci (VRE) results in linezolid-resistant mutation in a child with severe congenital neutropenia: a case report. (17762497)
2007
24
Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. (17494858)
2007
25
Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia. (16584360)
2006
26
Severe congenital neutropenia: genetics and pathogenesis. (18528462)
2006
27
The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. (16497969)
2006
28
A family of severe congenital neutropenia with -199C to A substitution in ELA2 promoter. (16795059)
2006
29
A comparison of cyclic neutropenia in childhood and severe congenital neutropenia. (16079089)
2005
30
A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia. (16079102)
2005
31
Retraction. Neutrophil elastase mutations in severe congenital neutropenia patients of the original Kostmann family. (12531802)
2004
32
Cellular and molecular abnormalities in severe congenital neutropenia predisposing to leukemia. (12763135)
2003
33
Acute coalescent mastoiditis and acoustic sequelae in an infant with severe congenital neutropenia. (11738697)
2002
34
Assessment of bone marrow stem cell reserve and function and stromal cell function in patients with severe congenital neutropenia. (11860446)
2001
35
Spontaneous remission of granulocyte colony-stimulating factor-associated leukemia in a child with severe congenital neutropenia. (11071667)
2000
36
Granulocyte colony-stimulating factor receptor mutations in severe congenital neutropenia transforming to acute myelogenous leukemia confer resistance to apoptosis and enhance cell survival. (10706885)
2000
37
Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. (10666190)
2000
38
Sustained receptor activation and hyperproliferation in response to granulocyte colony-stimulating factor (G-CSF) in mice with a severe congenital neutropenia/acute myeloid leukemia-derived mutation in the G-CSF receptor gene. (9989983)
1999
39
Alkaline phosphatase activity in neutrophils from patients with severe congenital neutropenia (Kostmann's syndrome). (10643149)
1999
40
G-CSF receptor mutations in patients with severe congenital neutropenia do not abrogate Jak2 activation and stat1/stat3 translocation. (10372134)
1999
41
Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. (9116280)
1997
42
Dominantly inherited severe congenital neutropenia. (8890001)
1996
43
Severe congenital neutropenia terminating in acute myeloid leukemia: disease progression associated with mutations in the granulocyte-colony stimulating factor receptor gene. (8913314)
1996
44
Lack of alterations in the cytoplasmic domains of the granulocyte colony-stimulating factor receptors in eight cases of severe congenital neutropenia. (7833487)
1995
45
Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. (7542747)
1995
46
Cytokine profile during high-dose rhG-CSF therapy in severe congenital neutropenia. (7504401)
1994
47
Identification of a nonsense mutation in the granulocyte-colony- stimulating factor receptor in severe congenital neutropenia. (7514305)
1994
48
Assessment of G-CSF and GM-CSF mRNA expression in peripheral blood mononuclear cells from patients with severe congenital neutropenia and in human myeloid leukemic cell lines. (7678086)
1993
49
Increased serum levels of granulocyte colony-stimulating factor in patients with severe congenital neutropenia. (1708293)
1991
50
Severe congenital neutropenia with unique features of dysgranulopoiesis. (3966463)
1985

Variations for Severe Congenital Neutropenia

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Expression for genes affiliated with Severe Congenital Neutropenia

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Expression patterns in normal tissues for genes affiliated with Severe Congenital Neutropenia

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

Pathways for genes affiliated with Severe Congenital Neutropenia

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Pathways related to Severe Congenital Neutropenia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CSF3R, ELANE
29.3CEBPE, ELANE

Compounds for genes affiliated with Severe Congenital Neutropenia

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Sources:
44Novoseek, 11DrugBank
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Compounds related to Severe Congenital Neutropenia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pegfilgrastim44 1110.3CSF3R, ELANE
2fmlp449.3CSF3R, ELANE
3filgrastim44 1110.2CSF3R, ELANE
4endotoxin449.0CSF3R, ELANE

GO Terms for genes affiliated with Severe Congenital Neutropenia

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Cellular components related to Severe Congenital Neutropenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcriptional repressor complexGO:0170539.5ELANE, GFI1

Biological processes related to Severe Congenital Neutropenia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1defense response to bacteriumGO:0427429.3CEBPE, ELANE
2cellular response to lipopolysaccharideGO:0712229.3CEBPE, GFI1
3phagocytosisGO:0069099.2CEBPE, ELANE
4defense responseGO:0069528.6CSF3R, CEBPE, WAS

Products for genes affiliated with Severe Congenital Neutropenia

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Sources for Severe Congenital Neutropenia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet