MCID: ATS483
MIFTS: 33

Autosomal Dominant Severe Congenital Neutropenia

Categories: Blood diseases, Bone diseases, Cancer diseases, Endocrine diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Autosomal Dominant Severe Congenital Neutropenia

MalaCards integrated aliases for Autosomal Dominant Severe Congenital Neutropenia:

Name: Autosomal Dominant Severe Congenital Neutropenia 11 19 58 14
Neutropenia, Congenital, Severe, Autosomal Dominant 38
Severe Congenital Neutropenia Autosomal Dominant 19

Characteristics:


Inheritance:

Autosomal dominant 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Autosomal Dominant Severe Congenital Neutropenia

GARD: 19 A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.

MalaCards based summary: Autosomal Dominant Severe Congenital Neutropenia, also known as neutropenia, congenital, severe, autosomal dominant, is related to severe congenital neutropenia 8 and severe congenital neutropenia 2. An important gene associated with Autosomal Dominant Severe Congenital Neutropenia is GFI1 (Growth Factor Independent 1 Transcriptional Repressor), and among its related pathways/superpathways is Interaction between L1 and Ankyrins. Affiliated tissues include neutrophil, myeloid and skin, and related phenotypes are neutropenia and recurrent bacterial infections

Orphanet: 58 A rare primary immunodeficiency disorder characterized by autosomal dominant inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.

Disease Ontology: 11 A severe congenital neutropenia that has material basis in heterozygous mutation of an autosomal gene.

Related Diseases for Autosomal Dominant 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
Neutropenia, Severe Congenital, 8, Autosomal Dominant Neutropenia, Severe Congenital, 9, 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 Autosomal Dominant Severe Congenital Neutropenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 severe congenital neutropenia 8 32.5 SRP54 SCN11A SBDS PDE3A DNAJC21
2 severe congenital neutropenia 2 32.2 SNORD80 MIMT1 GFI1
3 neutropenia, severe congenital, 1, autosomal dominant 30.7 TCIRG1 ELANE
4 cyclic neutropenia 30.4 SBDS JAGN1 HAX1 GFI1 G6PC3 ELANE
5 neutropenia 30.3 SRP54 SBDS JAGN1 HAX1 GFI1 G6PC3
6 severe congenital neutropenia 30.0 TCIRG1 SRP54 SBDS LAMTOR2 JAGN1 HAX1
7 neutropenia, severe congenital, 8, autosomal dominant 11.2
8 neutropenia, severe congenital, 9, autosomal dominant 11.2
9 severe congenital neutropenia 6 10.3 JAGN1 G6PC3
10 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
11 spondylometaphyseal dysplasia, corner fracture type 10.3 SRP54 DNAJC21
12 neutropenia, severe congenital, 3, autosomal recessive 10.3 HAX1 ELANE
13 autosomal recessive severe congenital neutropenia 10.3 HAX1 G6PC3
14 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 10.3 HAX1 CLPB
15 generalized epilepsy with febrile seizures plus, type 2 10.3 SCN1A SCN11A
16 whim syndrome 1 10.2 HAX1 G6PC3 ELANE
17 alopecia, neurologic defects, and endocrinopathy syndrome 10.2 SBDS DNAJC21
18 poikiloderma with neutropenia 10.2 JAGN1 HAX1 G6PC3
19 neutropenia, severe congenital, x-linked 10.2 SBDS HAX1 ELANE
20 developmental and epileptic encephalopathy 2 10.2 SCN1A CDKL5
21 severe congenital neutropenia 4 10.2 SBDS HAX1 G6PC3
22 developmental and epileptic encephalopathy 21 10.2 SCN1A CDKL5
23 trigeminal nerve disease 10.2 SCN1A SCN11A
24 epilepsy with generalized tonic-clonic seizures 10.2 SCN1A CDKL5
25 landau-kleffner syndrome 10.2 SCN1A CDKL5
26 developmental and epileptic encephalopathy 9 10.1 SCN1A CDKL5
27 generalized epilepsy with febrile seizures plus 10.1 SCN1A SCN11A CDKL5
28 infancy electroclinical syndrome 10.1 SCN1A CDKL5
29 cohen syndrome 10.1 LAMTOR2 JAGN1 HAX1 G6PC3
30 dravet syndrome 10.1 SCN1A SCN11A CDKL5
31 epilepsy, idiopathic generalized 10.1 SCN1A SCN11A CDKL5
32 developmental and epileptic encephalopathy 14 10.1 SCN1A CDKL5
33 severe congenital neutropenia 1 10.1
34 common variable immunodeficiency 10.1
35 benign neonatal seizures 10.1 SCN1A CDKL5
36 severe congenital neutropenia 5 10.1 LAMTOR2 JAGN1 HAX1 GFI1 G6PC3
37 severe congenital neutropenia 7 10.0 SRP54 JAGN1 HAX1 GFI1 G6PC3 DNAJC21
38 severe congenital neutropenia 3 10.0 SBDS JAGN1 HAX1 GFI1 G6PC3 ELANE
39 photosensitive epilepsy 10.0 SCN1A CDKL5
40 shwachman-diamond syndrome 1 9.9 SRP54 SBDS HAX1 GFI1 G6PC3 ELANE
41 sturge-weber syndrome 9.9 SCN1A CDKL5

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



Diseases related to Autosomal Dominant Severe Congenital Neutropenia

Symptoms & Phenotypes for Autosomal Dominant Severe Congenital Neutropenia

Human phenotypes related to Autosomal Dominant Severe Congenital Neutropenia:

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

Drugs & Therapeutics for Autosomal Dominant Severe Congenital Neutropenia

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

Genetic Tests for Autosomal Dominant Severe Congenital Neutropenia

Anatomical Context for Autosomal Dominant Severe Congenital Neutropenia

Organs/tissues related to Autosomal Dominant Severe Congenital Neutropenia:

MalaCards : Neutrophil, Myeloid, Skin

Publications for Autosomal Dominant Severe Congenital Neutropenia

Articles related to Autosomal Dominant Severe Congenital Neutropenia:

# Title Authors PMID Year
1
In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis. 62
35571273 2022
2
Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia. 62
32325141 2020
3
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia. 62
20049848 2010

Variations for Autosomal Dominant Severe Congenital Neutropenia

Expression for Autosomal Dominant Severe Congenital Neutropenia

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

Pathways for Autosomal Dominant Severe Congenital Neutropenia

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

# Super pathways Score Top Affiliating Genes
1 10.11 SCN1A SCN11A

GO Terms for Autosomal Dominant Severe Congenital Neutropenia

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

# Name GO ID Score Top Affiliating Genes
1 membrane depolarization during action potential GO:0086010 9.71 SCN1A SCN11A
2 protein targeting to ER GO:0045047 9.62 SRP54 SEC61A1
3 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.54 SCN1A SCN11A
4 granulocyte differentiation GO:0030851 9.43 SRP54 CLPB
5 cellular response to cold GO:0070417 9.33 SCN11A DNAJC3
6 SRP-dependent cotranslational protein targeting to membrane GO:0006614 9.26 SRP54 SEC61A1
7 SRP-dependent cotranslational protein targeting to membrane, translocation GO:0006616 8.92 SRP54 SEC61A1

Sources for Autosomal Dominant Severe Congenital Neutropenia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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