MCID: ATS483
MIFTS: 34

Autosomal Dominant Severe Congenital Neutropenia

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 Autosomal Dominant Severe Congenital Neutropenia

MalaCards integrated aliases for Autosomal Dominant Severe Congenital Neutropenia:

Name: Autosomal Dominant Severe Congenital Neutropenia 12 20 58
Neutropenia, Congenital, Severe, Autosomal Dominant 39
Severe Congenital Neutropenia Autosomal Dominant 20

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 Autosomal Dominant Severe Congenital Neutropenia

Disease Ontology : 12 A severe congenital neutropenia that has material basis in heterozygous mutation of an autosomal gene.

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

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 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:

# Related Disease Score Top Affiliating Genes
1 severe congenital neutropenia 29.0 TCIRG1 SRP54 GFI1 ELANE
2 neutropenia 28.9 TCIRG1 SRP54 GFI1 ELANE
3 severe congenital neutropenia 8 11.6
4 neutropenia, severe congenital, 8, autosomal dominant 11.2
5 severe congenital neutropenia 2 11.2
6 common variable immunodeficiency 10.1
7 cyclic neutropenia 9.7 GFI1 ELANE
8 neutropenia, severe congenital, 1, autosomal dominant 9.6 TCIRG1 ELANE
9 cohen syndrome 9.6 GFI1 ELANE
10 shwachman-diamond syndrome 1 9.5 SRP54 GFI1 ELANE

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 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 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
6 lymphopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001888
7 gingivitis 58 31 frequent (33%) Frequent (79-30%) HP:0000230
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 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

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

40
Myeloid, Neutrophil

Publications for Autosomal Dominant Severe Congenital Neutropenia

Articles related to Autosomal Dominant Severe Congenital Neutropenia:

# 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
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
7
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 6
11001877 2000
8
Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia. 61
32325141 2020
9
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia. 61
20049848 2010

Variations for Autosomal Dominant Severe Congenital Neutropenia

ClinVar genetic disease variations for Autosomal Dominant Severe Congenital Neutropenia:

6 (show top 50) (show all 155)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ELANE NM_001972.4(ELANE):c.214G>A (p.Val72Met) SNV Pathogenic 16744 rs387906553 19:853022-853022 19:853022-853022
2 ELANE NM_001972.4(ELANE):c.211T>C (p.Cys71Arg) SNV Pathogenic 16746 rs28931611 19:853019-853019 19:853019-853019
3 ELANE NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) SNV Pathogenic 16748 rs137854451 19:856000-856000 19:856000-856000
4 ELANE NM_001972.4(ELANE):c.561C>A (p.Cys187Ter) SNV Pathogenic 208494 rs797045009 19:855758-855758 19:855758-855758
5 TCIRG1 NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) SNV Pathogenic 127173 rs587779413 11:67817691-67817691 11:68050224-68050224
6 GFI1 NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser) SNV Pathogenic 8739 rs28936381 1:92941710-92941710 1:92476153-92476153
7 ELANE NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) SNV Pathogenic 16743 rs137854448 19:855613-855613 19:855613-855613
8 ELANE NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) SNV Pathogenic 535843 rs57246956 19:855649-855649 19:855649-855649
9 ELANE NM_001972.4(ELANE):c.182C>T (p.Ala61Val) SNV Pathogenic 16740 rs137854447 19:852990-852990 19:852990-852990
10 ELANE NM_001972.4(ELANE):c.597+1G>A SNV Pathogenic 242287 rs1555710005 19:855795-855795 19:855795-855795
11 ELANE NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) SNV Pathogenic 16745 rs137854450 19:855574-855574 19:855574-855574
12 ELANE NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) SNV Pathogenic 16738 rs137854445 19:856019-856019 19:856019-856019
13 ELANE NM_001972.4(ELANE):c.301G>A (p.Val101Met) SNV Pathogenic 844491 19:853338-853338 19:853338-853338
14 ELANE NM_001972.4(ELANE):c.607G>C (p.Gly203Arg) SNV Pathogenic 939547 19:855967-855967 19:855967-855967
15 ELANE NM_001972.4(ELANE):c.597+1G>A SNV Pathogenic 242287 rs1555710005 19:855795-855795 19:855795-855795
16 ELANE NM_001972.4(ELANE):c.292G>T (p.Val98Leu) SNV Pathogenic 16747 rs267606781 19:853329-853329 19:853329-853329
17 ELANE NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) SNV Pathogenic/Likely pathogenic 16743 rs137854448 19:855613-855613 19:855613-855613
18 ELANE NM_001972.4(ELANE):c.597+5G>A SNV Likely pathogenic 245598 rs879253882 19:855799-855799 19:855799-855799
19 ELANE NM_001972.4(ELANE):c.253G>A (p.Gly85Arg) SNV Likely pathogenic 836562 19:853290-853290 19:853290-853290
20 ELANE NM_001972.4(ELANE):c.136T>C (p.Ser46Pro) SNV Likely pathogenic 952580 19:852944-852944 19:852944-852944
21 ELANE NM_001972.4(ELANE):c.308G>C (p.Arg103Pro) SNV Likely pathogenic 842953 19:853345-853345 19:853345-853345
22 ELANE NM_001972.4(ELANE):c.524C>T (p.Thr175Met) SNV Conflicting interpretations of pathogenicity 696438 rs193141883 19:855721-855721 19:855721-855721
23 ELANE NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) SNV Conflicting interpretations of pathogenicity 16745 rs137854450 19:855574-855574 19:855574-855574
24 GFI1 NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) SNV Conflicting interpretations of pathogenicity 801501 rs777241871 1:92941605-92941605 1:92476048-92476048
25 GFI1 NM_005263.5(GFI1):c.569G>C (p.Gly190Ala) SNV Uncertain significance 943387 1:92946375-92946375 1:92480818-92480818
26 GFI1 NM_005263.5(GFI1):c.1076C>T (p.Thr359Ile) SNV Uncertain significance 946598 1:92944159-92944159 1:92478602-92478602
27 GFI1 NM_005263.5(GFI1):c.796A>G (p.Thr266Ala) SNV Uncertain significance 947502 1:92946033-92946033 1:92480476-92480476
28 GFI1 NM_005263.5(GFI1):c.797C>T (p.Thr266Met) SNV Uncertain significance 949003 1:92946032-92946032 1:92480475-92480475
29 GFI1 NM_005263.5(GFI1):c.494C>A (p.Ala165Asp) SNV Uncertain significance 949284 1:92946450-92946450 1:92480893-92480893
30 GFI1 NM_005263.5(GFI1):c.391G>A (p.Asp131Asn) SNV Uncertain significance 951085 1:92946553-92946553 1:92480996-92480996
31 GFI1 NM_005263.5(GFI1):c.1120G>A (p.Gly374Ser) SNV Uncertain significance 954544 1:92941735-92941735 1:92476178-92476178
32 GFI1 NM_005263.5(GFI1):c.1245G>T (p.Arg415=) SNV Uncertain significance 965429 1:92941610-92941610 1:92476053-92476053
33 GFI1 NM_005263.5(GFI1):c.923A>T (p.Gln308Leu) SNV Uncertain significance 967970 1:92945906-92945906 1:92480349-92480349
34 GFI1 NM_005263.5(GFI1):c.477G>A (p.Pro159=) SNV Uncertain significance 581490 rs1249429892 1:92946467-92946467 1:92480910-92480910
35 GFI1 NM_005263.5(GFI1):c.603C>T (p.Gly201=) SNV Uncertain significance 643429 rs1230474672 1:92946341-92946341 1:92480784-92480784
36 GFI1 NM_005263.5(GFI1):c.682G>C (p.Gly228Arg) SNV Uncertain significance 643828 rs779127899 1:92946262-92946262 1:92480705-92480705
37 GFI1 NM_005263.5(GFI1):c.440G>T (p.Arg147Leu) SNV Uncertain significance 644864 rs1367385969 1:92946504-92946504 1:92480947-92480947
38 GFI1 NM_005263.5(GFI1):c.854C>T (p.Ala285Val) SNV Uncertain significance 644949 rs767464450 1:92945975-92945975 1:92480418-92480418
39 GFI1 NM_005263.5(GFI1):c.938A>G (p.Asp313Gly) SNV Uncertain significance 566000 rs376042061 1:92944297-92944297 1:92478740-92478740
40 GFI1 NM_005263.5(GFI1):c.191C>A (p.Ala64Asp) SNV Uncertain significance 834993 1:92948528-92948528 1:92482971-92482971
41 GFI1 NM_005263.5(GFI1):c.534G>T (p.Gly178=) SNV Uncertain significance 840261 1:92946410-92946410 1:92480853-92480853
42 GFI1 NM_005263.5(GFI1):c.571G>A (p.Ala191Thr) SNV Uncertain significance 840484 1:92946373-92946373 1:92480816-92480816
43 GFI1 NM_005263.5(GFI1):c.74A>G (p.Tyr25Cys) SNV Uncertain significance 864714 1:92948971-92948971 1:92483414-92483414
44 ELANE NM_001972.4(ELANE):c.367C>G (p.Leu123Val) SNV Uncertain significance 977499 19:855564-855564 19:855564-855564
45 ELANE NM_001972.4(ELANE):c.322G>C (p.Gly108Arg) SNV Uncertain significance 981519 19:853359-853359 19:853359-853359
46 GFI1 NM_005263.5(GFI1):c.431C>G (p.Ala144Gly) SNV Uncertain significance 435318 rs533176227 1:92946513-92946513 1:92480956-92480956
47 ELANE NM_001972.4(ELANE):c.119C>T (p.Ala40Val) SNV Uncertain significance 467828 rs1555709342 19:852927-852927 19:852927-852927
48 ELANE NM_001972.4(ELANE):c.378G>A (p.Ser126=) SNV Uncertain significance 535839 rs202204133 19:855575-855575 19:855575-855575
49 ELANE NM_001972.4(ELANE):c.172A>C (p.Thr58Pro) SNV Uncertain significance 535840 rs1555709360 19:852980-852980 19:852980-852980
50 ELANE NM_001972.4(ELANE):c.38C>G (p.Ala13Gly) SNV Uncertain significance 535841 rs756726256 19:852366-852366 19:852366-852366

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

GO Terms for Autosomal Dominant Severe Congenital Neutropenia

Cellular components related to Autosomal Dominant Severe Congenital Neutropenia 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 Autosomal Dominant Severe Congenital Neutropenia 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 Autosomal Dominant Severe Congenital Neutropenia

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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