SCN3
MCID: SVR107
MIFTS: 20

Severe Congenital Neutropenia 3 (SCN3)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Severe Congenital Neutropenia 3

MalaCards integrated aliases for Severe Congenital Neutropenia 3:

Name: Severe Congenital Neutropenia 3 12
Kostmann Syndrome 12 73
Infantile Agranulocytosis 12
Kostmann Disease 12
Scn3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112133

Summaries for Severe Congenital Neutropenia 3

Disease Ontology : 12 A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has material basis in homozygous or compound heterozygous mutation in HAX1 on chromosome 1q21.3.

MalaCards based summary : Severe Congenital Neutropenia 3, also known as kostmann syndrome, is related to severe congenital neutropenia and neutropenia, severe congenital, 3, autosomal recessive. Affiliated tissues include bone marrow, myeloid and neutrophil.

Wikipedia : 73 Severe congenital neutropenia (SCN), also often known as Kostmann syndrome or disease, is a group of... more...

Related Diseases for Severe Congenital Neutropenia 3

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
Neutropenia, Severe Congenital, 8, Autosomal Dominant Severe Congenital Neutropenia
Severe Congenital Neutropenia 1 Severe Congenital Neutropenia 7
Autosomal Dominant Severe Congenital Neutropenia Severe Congenital Neutropenia 2
Severe Congenital Neutropenia 5 Severe Congenital Neutropenia 3
Severe Congenital Neutropenia 6 Severe Congenital Neutropenia 8
Severe Congenital Neutropenia 4 Elane-Related Neutropenia
Acquired Neutropenia Autosomal Recessive Severe Congenital Neutropenia

Diseases related to Severe Congenital Neutropenia 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 severe congenital neutropenia 11.2
2 neutropenia, severe congenital, 3, autosomal recessive 11.1
3 dentin dysplasia, type i 11.0
4 neutropenia 10.3
5 bacterial infectious disease 10.1
6 granulocytopenia 10.1
7 graft-versus-host disease 10.1
8 leukemia, acute myeloid 10.0
9 down syndrome 9.9
10 periodontitis, chronic 9.9
11 barth syndrome 9.9
12 myelodysplastic syndrome 9.9
13 deficiency anemia 9.9
14 autosomal recessive disease 9.9
15 acute basophilic leukemia 9.9
16 thrombocytopenia 9.9
17 periodontitis 9.9
18 hypereosinophilic syndrome 9.9
19 elane-related neutropenia 9.9
20 g6pc3 deficiency 9.9
21 chromosomal triplication 9.9
22 splenomegaly 9.9
23 autosomal recessive severe congenital neutropenia 9.9
24 otitis media 9.9
25 periodontitis, aggressive, 1 9.9
26 thyroid cancer, nonmedullary, 1 9.9
27 alacrima, achalasia, and mental retardation syndrome 9.9
28 lung abscess 9.9
29 suppurative otitis media 9.9
30 pure red-cell aplasia 9.9
31 epilepsy 9.9
32 dental caries 9.9
33 orchitis 9.9
34 gingivitis 9.9
35 cellulitis 9.9
36 b-cell lymphoma 9.9
37 epididymo-orchitis 9.9
38 stomatitis 9.9
39 chronic graft versus host disease 9.9
40 neurometabolic disease 9.9
41 refractory anemia 9.9
42 thyroid carcinoma 9.9
43 neutropenia, severe congenital, 1, autosomal dominant 9.9
44 wiskott-aldrich syndrome 9.9
45 overgrowth syndrome 9.9

Graphical network of the top 20 diseases related to Severe Congenital Neutropenia 3:



Diseases related to Severe Congenital Neutropenia 3

Symptoms & Phenotypes for Severe Congenital Neutropenia 3

Drugs & Therapeutics for Severe Congenital Neutropenia 3

Search Clinical Trials , NIH Clinical Center for Severe Congenital Neutropenia 3

Genetic Tests for Severe Congenital Neutropenia 3

Anatomical Context for Severe Congenital Neutropenia 3

MalaCards organs/tissues related to Severe Congenital Neutropenia 3:

40
Bone Marrow, Myeloid, Neutrophil, Thyroid, Monocytes

Publications for Severe Congenital Neutropenia 3

Articles related to Severe Congenital Neutropenia 3:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review. 61
33381479 2020
2
A Case of Papillary Thyroid Carcinoma and Kostmann Syndrome: A Genomic Theranostic Approach for Comprehensive Treatment. 61
31308356 2019
3
Coexistence of Gaucher Disease and severe congenital neutropenia. 61
30473482 2019
4
Oral microbial dysbiosis in patients with Kostmann syndrome. 61
30875283 2019
5
Kostmann syndrome: oral aspects and 10-year follow-up case report. 61
27485710 2016
6
Epilepsy in Kostmann syndrome: report of a case and review of the literature. 61
26319127 2016
7
Clinical Challenges Q&A. 18. Oral Ulceration. Diagnosis. Congenital agranulocytosis (Kostmann syndrome). 61
27188141 2016
8
Immunoblotting validation of research antibodies generated against HS1-associated protein X-1 in the human neutrophil model cell line PLB-985. 61
27335634 2015
9
The non-surgical management of a patient with Kostmann syndrome-associated periodontitis: a case report. 61
25500931 2014
10
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations. 61
24482108 2014
11
Failure in implant rehabilitation in a patient with severe congenital neutropenia (Kostmann syndrome). 61
22449432 2012
12
Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis. 61
21665176 2011
13
The importance of dental care for a child with severe congenital neutropenia: a case report. 61
21044107 2010
14
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. 61
18611981 2008
15
[Congenital bone marrow failure syndromes. The last 20 years by the example of congenital neutropenia]. 61
18026880 2007
16
The effect of donor leukocyte infusion on refractory pure red blood cell aplasia after allogeneic stem cell transplantation in a patient with myelodysplastic syndrome developing from Kostmann syndrome. 61
18192114 2007
17
[Bone marrow examination of inherited diseases in children]. 61
17913668 2007
18
Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia. 61
17537008 2007
19
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden. 61
17188649 2007
20
Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia. 61
17129957 2006
21
Unrelated bone marrow transplantation using a reduced-intensity conditioning regimen for the treatment of Kostmann syndrome. 61
16953204 2006
22
Severe congenital neutropenia. 61
16822461 2006
23
Recurrent epididymo-orchitis in an 8-year-old child with Kostmann syndrome (severe congenital neutropenia). 61
16709337 2006
24
Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden. 61
16670064 2006
25
Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia. 61
16584360 2006
26
Detection and quantification of herpesviruses in Kostmann syndrome periodontitis using real-time polymerase chain reaction: a case report. 61
16476015 2006
27
Congenital neutropenia and primary immunodeficiency disorders: a survey of 26 Iranian patients. 61
16012323 2005
28
Successful engraftment following unrelated donor transplant in an alloimmunized patient with Kostmann syndrome. 61
15481082 2005
29
Periodontal status in two siblings with severe congenital neutropenia: diagnosis and mutational analysis of the cases. 61
15898946 2005
30
Differential STAT5 signaling by ligand-dependent and constitutively active cytokine receptors. 61
15677477 2005
31
Unrelated donor marrow transplantation for congenital immunodeficiency and metabolic disease: an update of the experience of the Japan Marrow Donor Program. 61
15481448 2004
32
Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells. 61
14764541 2004
33
Uneventful outcome of unrelated hematopoietic stem cell transplantation in a patient with leukemic transformation of Kostmann syndrome and long-lasting invasive pulmonary mycosis. 61
12694170 2003
34
Congenital neutropenias. 61
14692235 2003
35
Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy. 61
14533448 2003
36
Kostmann syndrome and severe congenital neutropenia. 61
11957189 2002
37
Kostmann disease--infantile genetic agranulocytosis: historical views and new aspects. 61
12578276 2002
38
Using fluorescence-activated cell sorting followed by fluorescence in situ hybridization to study lineage relationships: the 8;21 translocation is present in neutrophils but not monocytes in a patient with severe congenital neutropenia and a granulocyte colony-stimulating factor-responsive clonal abnormality. 61
12477275 2002
39
Early-onset group B streptococcal sepsis in a preterm infant with Kostmann syndrome. 61
12578301 2002
40
Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. 61
11675333 2001
41
Usefulness of bronchoalveolar lavage for the diagnosis and treatment of refractory pneumonia in a patient with Kostmann syndrome, a severe congenital neutropenia. 61
11505282 2001
42
Successful unrelated BMT in a patient with Kostmann syndrome complicated by pre-transplant pulmonary 'bacterial' abscesses. 61
11571517 2001
43
Trisomy 21 and isodicentric chromosome 21 in Kostmann syndrome following treatment with G-CSF. 61
11343785 2001
44
Oral manifestations of congenital neutropenia or Kostmann syndrome. 61
11688822 2001
45
[Severe congenital neutropenia: trends in diagnosis and therapy]. 61
10994541 2000
46
Management of Kostmann syndrome in the G-CSF era. 61
10886193 2000
47
Differential expression and regulation of GTPases (RhoA and Rac2) and GDIs (LyGDI and RhoGDI) in neutrophils from patients with severe congenital neutropenia. 61
10779444 2000
48
Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. 61
10666190 2000
49
[Kostmann syndrome, hereditary neutropenia]. 61
11212666 2000
50
Bilateral basal ganglial necrosis after allogeneic bone marrow transplantation in a child with Kostmann syndrome. 61
10100568 1999

Variations for Severe Congenital Neutropenia 3

Expression for Severe Congenital Neutropenia 3

Search GEO for disease gene expression data for Severe Congenital Neutropenia 3.

Pathways for Severe Congenital Neutropenia 3

GO Terms for Severe Congenital Neutropenia 3

Sources for Severe Congenital Neutropenia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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