MCID: SVR012
MIFTS: 28

Severe Congenital Neutropenia Autosomal Dominant

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Severe Congenital Neutropenia Autosomal Dominant

MalaCards integrated aliases for Severe Congenital Neutropenia Autosomal Dominant:

Name: Severe Congenital Neutropenia Autosomal Dominant 52
Autosomal Dominant Severe Congenital Neutropenia 52 58
Neutropenia, Congenital, Severe, Autosomal Dominant 39

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant severe congenital neutropenia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Severe Congenital Neutropenia Autosomal Dominant

MalaCards based summary : Severe Congenital Neutropenia Autosomal Dominant, also known as autosomal dominant severe congenital neutropenia, is related to severe congenital neutropenia and neutropenia. An important gene associated with Severe Congenital Neutropenia Autosomal Dominant is ELANE (Elastase, Neutrophil Expressed). Affiliated tissues include skin, myeloid and neutrophil, and related phenotypes are neutropenia and recurrent bacterial infections

Related Diseases for Severe Congenital Neutropenia Autosomal Dominant

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



Diseases related to Severe Congenital Neutropenia Autosomal Dominant

Symptoms & Phenotypes for Severe Congenital Neutropenia Autosomal Dominant

Human phenotypes related to Severe Congenital Neutropenia Autosomal Dominant:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neutropenia 58 31 obligate (100%) Obligate (100%) HP:0001875
2 recurrent bacterial infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002718
3 recurrent viral infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0004429
4 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
5 gingivitis 58 31 frequent (33%) Frequent (79-30%) HP:0000230
6 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
7 lymphopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001888
8 periodontitis 58 31 frequent (33%) Frequent (79-30%) HP:0000704
9 pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0002090
10 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
11 recurrent sinopulmonary infections 58 31 frequent (33%) Frequent (79-30%) HP:0005425
12 oral ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0000155
13 recurrent aphthous stomatitis 58 31 frequent (33%) Frequent (79-30%) HP:0011107
14 recurrent skin infections 58 31 frequent (33%) Frequent (79-30%) HP:0001581
15 rhinitis 58 31 frequent (33%) Frequent (79-30%) HP:0012384
16 recurrent infection of the gastrointestinal tract 58 31 frequent (33%) Frequent (79-30%) HP:0004798
17 recurrent ear infections 58 31 frequent (33%) Frequent (79-30%) HP:0410018
18 pharyngitis 58 31 frequent (33%) Frequent (79-30%) HP:0025439
19 monocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0012311
20 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
21 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
22 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
23 hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001028
24 eosinophilia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001880
25 acute lymphoblastic leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006721
26 premature loss of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006480
27 acute myeloid leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004808
28 aplastic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001915
29 antineutrophil antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003453
30 pyoderma gangrenosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0025452
31 leukemia 58 Occasional (29-5%)

Drugs & Therapeutics for Severe Congenital Neutropenia Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Severe Congenital Neutropenia Autosomal Dominant

Genetic Tests for Severe Congenital Neutropenia Autosomal Dominant

Anatomical Context for Severe Congenital Neutropenia Autosomal Dominant

MalaCards organs/tissues related to Severe Congenital Neutropenia Autosomal Dominant:

40
Skin, Myeloid, Neutrophil, T Cells

Publications for Severe Congenital Neutropenia Autosomal Dominant

Articles related to Severe Congenital Neutropenia Autosomal Dominant:

# Title Authors PMID Year
1
Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE. 6
20560965 2010
2
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. 6
18028488 2008
3
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. 6
17436313 2007
4
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. 6
14962902 2004
5
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. 6
12778173 2003
6
ELANE-Related Neutropenia 6
20301705 2002
7
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. 6
11675333 2001
8
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 6
11001877 2000
9
Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia. 61
32325141 2020
10
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia. 61
20049848 2010

Variations for Severe Congenital Neutropenia Autosomal Dominant

Expression for Severe Congenital Neutropenia Autosomal Dominant

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

Pathways for Severe Congenital Neutropenia Autosomal Dominant

GO Terms for Severe Congenital Neutropenia Autosomal Dominant

Cellular components related to Severe Congenital Neutropenia Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phagocytic vesicle GO:0045335 8.96 TCIRG1 ELANE
2 transcriptional repressor complex GO:0017053 8.62 GFI1 ELANE

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

# Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 8.62 TCIRG1 ELANE

Sources for Severe Congenital Neutropenia Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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