SCN1
MCID: NTR047
MIFTS: 37

Neutropenia, Severe Congenital, 1, Autosomal Dominant (SCN1)

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 Neutropenia, Severe Congenital, 1, Autosomal Dominant

MalaCards integrated aliases for Neutropenia, Severe Congenital, 1, Autosomal Dominant:

Name: Neutropenia, Severe Congenital, 1, Autosomal Dominant 57
Neutropenia, Severe Congenital 1, Autosomal Dominant 57 72 29 13 6
Scn1 57 72
Neutropenia, Severe Congenital, Autosomal Dominant 1 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy


HPO:

31
neutropenia, severe congenital, 1, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 202700
OMIM Phenotypic Series 57 PS202700
MeSH 44 D009503
MedGen 41 C1859966
UMLS 70 C1859966

Summaries for Neutropenia, Severe Congenital, 1, Autosomal Dominant

OMIM® : 57 Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections (Skokowa et al., 2007). About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations, resulting in a form of severe congenital neutropenia, which is designated here as SCN1. (202700) (Updated 05-Apr-2021)

MalaCards based summary : Neutropenia, Severe Congenital, 1, Autosomal Dominant, also known as neutropenia, severe congenital 1, autosomal dominant, is related to neutropenia, severe congenital, 3, autosomal recessive and neutropenia, severe congenital, 5, autosomal recessive. An important gene associated with Neutropenia, Severe Congenital, 1, Autosomal Dominant is ELANE (Elastase, Neutrophil Expressed). Affiliated tissues include neutrophil, bone and bone marrow, and related phenotypes are anemia and neutropenia

UniProtKB/Swiss-Prot : 72 Neutropenia, severe congenital 1, autosomal dominant: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.

Related Diseases for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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 Neutropenia, Severe Congenital, 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neutropenia, severe congenital, 3, autosomal recessive 10.9
2 neutropenia, severe congenital, 5, autosomal recessive 10.9
3 neutropenia, severe congenital, 7, autosomal recessive 10.9
4 neutropenia, severe congenital, 8, autosomal dominant 10.9
5 epilepsy 10.0
6 neutropenia 9.6 TCIRG1 ELANE
7 autosomal dominant severe congenital neutropenia 9.6 TCIRG1 ELANE
8 severe congenital neutropenia 9.5 TCIRG1 ELANE

Graphical network of the top 20 diseases related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:



Diseases related to Neutropenia, Severe Congenital, 1, Autosomal Dominant

Symptoms & Phenotypes for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Human phenotypes related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 anemia 31 HP:0001903
2 neutropenia 31 HP:0001875
3 eosinophilia 31 HP:0001880
4 recurrent bacterial infections 31 HP:0002718
5 thrombocytosis 31 HP:0001894
6 acute monocytic leukemia 31 HP:0004845
7 monocytosis 31 HP:0012311
8 growth abnormality 31 HP:0001507
9 increased circulating antibody level 31 HP:0010702
10 congenital agranulocytosis 31 HP:0005541

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
eosinophilia
thrombocytosis
increased absolute neutrophil count (anc) within 0.0-0.2 x 10(9)/l
anemia, mild
increase in blood monocytes (2-3 times normal)
more
Immunology:
recurrent severe infections

Clinical features from OMIM®:

202700 (Updated 05-Apr-2021)

Drugs & Therapeutics for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Genetic Tests for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Genetic tests related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Neutropenia, Severe Congenital 1, Autosomal Dominant 29 ELANE

Anatomical Context for Neutropenia, Severe Congenital, 1, Autosomal Dominant

MalaCards organs/tissues related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:

40
Neutrophil, Bone, Bone Marrow, Myeloid, Monocytes, Brain, Lung

Publications for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Articles related to Neutropenia, Severe Congenital, 1, Autosomal Dominant:

(show top 50) (show all 78)
# Title Authors PMID Year
1
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. 57 6
19036076 2009
2
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. 57 6
18611981 2008
3
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. 57 6
18028488 2008
4
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 6 57
11001877 2000
5
Mosaicism of an ELANE Mutation in an Asymptomatic Mother. 6
30635825 2019
6
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases. 6
30273710 2019
7
Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell Death 6
30040071 2018
8
Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia. 57
27270496 2016
9
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. 6
25703294 2016
10
ELANE mutant-specific activation of different UPR pathways in congenital neutropenia. 6
26567890 2016
11
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. 6
25427142 2015
12
TCIRG1-associated congenital neutropenia. 6
24753205 2014
13
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. 6
24523240 2014
14
Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene. 6
24616599 2014
15
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 6
23463630 2013
16
Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving. 6
22758217 2012
17
Novel ELANE gene mutation in a Korean girl with severe congenital neutropenia. 6
22148006 2011
18
Four novel ELANE mutations in patients with congenital neutropenia. 6
21425445 2011
19
Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. 6
20582973 2010
20
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia. 6
20049848 2010
21
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. 6
19775295 2009
22
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. 6
17436313 2007
23
Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia. 6
17391497 2007
24
Neutrophil elastase in cyclic and severe congenital neutropenia. 6
17053055 2007
25
Severe congenital neutropenia: inheritance and pathophysiology. 57
17133096 2007
26
LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. 57
17063141 2006
27
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. 6
16551967 2006
28
Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. 6
16737875 2006
29
A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia. 6
16079102 2005
30
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
31
ELANE-Related Neutropenia 6
20301705 2002
32
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
33
Immunodeficiency diseases caused by defects in phagocytes. 57
11106721 2000
34
Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. 57
10887102 2000
35
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 6
10581030 1999
36
Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia. 57
9691084 1998
37
Perturbed granulopoiesis in mice with a targeted mutation in the granulocyte colony-stimulating factor receptor gene associated with severe chronic neutropenia. 57
9639496 1998
38
High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann's syndrome). 57
9386665 1997
39
Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. 57
9116280 1997
40
Pathophysiology and treatment of severe chronic neutropenia. 57
8624368 1996
41
The protein tyrosine kinase JAK2 is activated in neutrophils from patients with severe congenital neutropenia. 57
8541539 1995
42
Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. 57
7542747 1995
43
Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias. 57
7529539 1994
44
Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia. 57
7514305 1994
45
A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia. 57
8490166 1993
46
Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. 57
2471075 1989
47
Congenital agranulocytosis terminating in acute myelomonocytic leukemia. 57
284110 1979
48
Infantile genetic agranulocytosis and acute lymphocytic leukemia in two sibs. 57
275472 1978
49
Congenital neutropenia: in vitro growth of colonies mimicking the disease. 57
4514979 1973
50
In vitro induction of myeloid proliferation and maturation in infantile genetic agranulocytosis. 57
4326838 1971

Variations for Neutropenia, Severe Congenital, 1, Autosomal Dominant

ClinVar genetic disease variations for Neutropenia, Severe Congenital, 1, Autosomal Dominant:

6 (show top 50) (show all 121)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELANE NM_001972.4(ELANE):c.211T>C (p.Cys71Arg) SNV Pathogenic 16746 rs28931611 GRCh37: 19:853019-853019
GRCh38: 19:853019-853019
2 ELANE NM_001972.4(ELANE):c.561C>A (p.Cys187Ter) SNV Pathogenic 208494 rs797045009 GRCh37: 19:855758-855758
GRCh38: 19:855758-855758
3 TCIRG1 NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) SNV Pathogenic 127173 rs587779413 GRCh37: 11:67817691-67817691
GRCh38: 11:68050224-68050224
4 ELANE NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) SNV Pathogenic 16743 rs137854448 GRCh37: 19:855613-855613
GRCh38: 19:855613-855613
5 ELANE NM_001972.4(ELANE):c.214G>A (p.Val72Met) SNV Pathogenic 16744 rs387906553 GRCh37: 19:853022-853022
GRCh38: 19:853022-853022
6 ELANE NM_001972.4(ELANE):c.182C>T (p.Ala61Val) SNV Pathogenic 16740 rs137854447 GRCh37: 19:852990-852990
GRCh38: 19:852990-852990
7 ELANE NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) SNV Pathogenic 16745 rs137854450 GRCh37: 19:855574-855574
GRCh38: 19:855574-855574
8 ELANE NM_001972.4(ELANE):c.597+1G>A SNV Pathogenic 242287 rs1555710005 GRCh37: 19:855795-855795
GRCh38: 19:855795-855795
9 ELANE NM_001972.4(ELANE):c.301G>A (p.Val101Met) SNV Pathogenic 844491 GRCh37: 19:853338-853338
GRCh38: 19:853338-853338
10 ELANE NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) SNV Pathogenic 16738 rs137854445 GRCh37: 19:856019-856019
GRCh38: 19:856019-856019
11 ELANE NM_001972.4(ELANE):c.597+1G>A SNV Pathogenic 242287 rs1555710005 GRCh37: 19:855795-855795
GRCh38: 19:855795-855795
12 ELANE NM_001972.4(ELANE):c.607G>C (p.Gly203Arg) SNV Pathogenic 939547 GRCh37: 19:855967-855967
GRCh38: 19:855967-855967
13 ELANE NM_001972.4(ELANE):c.292G>T (p.Val98Leu) SNV Pathogenic 16747 rs267606781 GRCh37: 19:853329-853329
GRCh38: 19:853329-853329
14 ELANE NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) SNV Pathogenic 16748 rs137854451 GRCh37: 19:856000-856000
GRCh38: 19:856000-856000
15 ELANE NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) SNV Pathogenic 535843 rs57246956 GRCh37: 19:855649-855649
GRCh38: 19:855649-855649
16 ELANE NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) SNV Pathogenic 535843 rs57246956 GRCh37: 19:855649-855649
GRCh38: 19:855649-855649
17 ELANE NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) SNV Pathogenic/Likely pathogenic 16743 rs137854448 GRCh37: 19:855613-855613
GRCh38: 19:855613-855613
18 ELANE NM_001972.4(ELANE):c.597+5G>A SNV Likely pathogenic 245598 rs879253882 GRCh37: 19:855799-855799
GRCh38: 19:855799-855799
19 ELANE NM_001972.4(ELANE):c.253G>A (p.Gly85Arg) SNV Likely pathogenic 836562 GRCh37: 19:853290-853290
GRCh38: 19:853290-853290
20 ELANE NM_001972.4(ELANE):c.136T>C (p.Ser46Pro) SNV Likely pathogenic 952580 GRCh37: 19:852944-852944
GRCh38: 19:852944-852944
21 ELANE NM_001972.4(ELANE):c.308G>C (p.Arg103Pro) SNV Likely pathogenic 842953 GRCh37: 19:853345-853345
GRCh38: 19:853345-853345
22 ELANE NM_001972.4(ELANE):c.524C>T (p.Thr175Met) SNV Conflicting interpretations of pathogenicity 696438 rs193141883 GRCh37: 19:855721-855721
GRCh38: 19:855721-855721
23 ELANE NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) SNV Conflicting interpretations of pathogenicity 16745 rs137854450 GRCh37: 19:855574-855574
GRCh38: 19:855574-855574
24 ELANE NM_001972.4(ELANE):c.378G>A (p.Ser126=) SNV Uncertain significance 535839 rs202204133 GRCh37: 19:855575-855575
GRCh38: 19:855575-855575
25 ELANE NM_001972.4(ELANE):c.172A>C (p.Thr58Pro) SNV Uncertain significance 535840 rs1555709360 GRCh37: 19:852980-852980
GRCh38: 19:852980-852980
26 ELANE NM_001972.4(ELANE):c.38C>G (p.Ala13Gly) SNV Uncertain significance 535841 rs756726256 GRCh37: 19:852366-852366
GRCh38: 19:852366-852366
27 ELANE NM_001972.4(ELANE):c.665G>A (p.Gly222Asp) SNV Uncertain significance 535842 rs1555710104 GRCh37: 19:856025-856025
GRCh38: 19:856025-856025
28 ELANE NM_001972.4(ELANE):c.235G>C (p.Ala79Pro) SNV Uncertain significance 535844 rs769123461 GRCh37: 19:853272-853272
GRCh38: 19:853272-853272
29 ELANE NM_001972.4(ELANE):c.367-1G>C SNV Uncertain significance 638881 rs1442062349 GRCh37: 19:855563-855563
GRCh38: 19:855563-855563
30 ELANE NM_001972.4(ELANE):c.67+1G>T SNV Uncertain significance 639706 rs1599290074 GRCh37: 19:852396-852396
GRCh38: 19:852396-852396
31 ELANE NM_001972.4(ELANE):c.567C>G (p.Leu189=) SNV Uncertain significance 641103 rs751132983 GRCh37: 19:855764-855764
GRCh38: 19:855764-855764
32 ELANE NC_000019.9:g.(?_855938)_(856184_?)dup Duplication Uncertain significance 641564 GRCh37: 19:855938-856184
GRCh38: 19:855938-856184
33 ELANE NM_001972.4(ELANE):c.347A>G (p.Asn116Ser) SNV Uncertain significance 644203 rs1196145112 GRCh37: 19:853384-853384
GRCh38: 19:853384-853384
34 ELANE NM_001972.4(ELANE):c.589G>A (p.Val197Ile) SNV Uncertain significance 644303 rs1471191879 GRCh37: 19:855786-855786
GRCh38: 19:855786-855786
35 ELANE NM_001972.4(ELANE):c.256G>T (p.Ala86Ser) SNV Uncertain significance 644765 rs1599291445 GRCh37: 19:853293-853293
GRCh38: 19:853293-853293
36 ELANE NM_001972.4(ELANE):c.380_382CCA[1] (p.Thr128del) Microsatellite Uncertain significance 646593 rs1599293834 GRCh37: 19:855577-855579
GRCh38: 19:855577-855579
37 ELANE NM_001972.4(ELANE):c.727G>T (p.Asp243Tyr) SNV Uncertain significance 647853 rs752022665 GRCh37: 19:856087-856087
GRCh38: 19:856087-856087
38 ELANE NM_001972.4(ELANE):c.353T>A (p.Ile118Asn) SNV Uncertain significance 649979 rs1599291639 GRCh37: 19:853390-853390
GRCh38: 19:853390-853390
39 ELANE NM_001972.4(ELANE):c.39C>G (p.Ala13=) SNV Uncertain significance 651605 rs139637472 GRCh37: 19:852367-852367
GRCh38: 19:852367-852367
40 ELANE NM_001972.4(ELANE):c.430C>T (p.Arg144Cys) SNV Uncertain significance 654536 rs148726761 GRCh37: 19:855627-855627
GRCh38: 19:855627-855627
41 ELANE NM_001972.4(ELANE):c.70A>C (p.Thr24Pro) SNV Uncertain significance 657200 rs367677280 GRCh37: 19:852878-852878
GRCh38: 19:852878-852878
42 ELANE NM_001972.4(ELANE):c.14G>A (p.Arg5His) SNV Uncertain significance 661641 rs1050778419 GRCh37: 19:852342-852342
GRCh38: 19:852342-852342
43 ELANE NM_001972.4(ELANE):c.298G>A (p.Ala100Thr) SNV Uncertain significance 662107 rs549887145 GRCh37: 19:853335-853335
GRCh38: 19:853335-853335
44 ELANE NM_001972.4(ELANE):c.292G>A (p.Val98Met) SNV Uncertain significance 662721 rs267606781 GRCh37: 19:853329-853329
GRCh38: 19:853329-853329
45 ELANE NM_001972.4(ELANE):c.493A>G (p.Ile165Val) SNV Uncertain significance 664815 rs1599294094 GRCh37: 19:855690-855690
GRCh38: 19:855690-855690
46 ELANE NM_001972.4(ELANE):c.64G>C (p.Gly22Arg) SNV Uncertain significance 665494 rs1477643766 GRCh37: 19:852392-852392
GRCh38: 19:852392-852392
47 ELANE NC_000019.10:g.(?_852288)_(856184_?)del Deletion Uncertain significance 832041 GRCh37: 19:852288-856184
GRCh38:
48 ELANE NM_001972.4(ELANE):c.647C>T (p.Ala216Val) SNV Uncertain significance 579104 rs760080772 GRCh37: 19:856007-856007
GRCh38: 19:856007-856007
49 ELANE NM_001972.4(ELANE):c.342G>T (p.Leu114Phe) SNV Uncertain significance 572913 rs1568304522 GRCh37: 19:853379-853379
GRCh38: 19:853379-853379
50 ELANE NM_001972.4(ELANE):c.364C>T (p.Gln122Ter) SNV Uncertain significance 565626 rs1303279241 GRCh37: 19:853401-853401
GRCh38: 19:853401-853401

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, 1, Autosomal Dominant:

72 (show top 50) (show all 72)
# Symbol AA change Variation ID SNP ID
1 ELANE p.Cys55Tyr VAR_038609
2 ELANE p.Ala57Thr VAR_038610
3 ELANE p.Ile60Thr VAR_038611
4 ELANE p.Cys71Arg VAR_038612 rs28931611
5 ELANE p.Cys71Ser VAR_038613
6 ELANE p.Gly85Glu VAR_038614
7 ELANE p.Val98Leu VAR_038615 rs267606781
8 ELANE p.Val101Leu VAR_038616 rs137854449
9 ELANE p.Val101Met VAR_038617 rs137854449
10 ELANE p.Ser126Leu VAR_038619 rs137854450
11 ELANE p.Pro139Leu VAR_038620 rs137854448
12 ELANE p.Cys151Ser VAR_038621
13 ELANE p.Pro205Arg VAR_038623 rs155571007
14 ELANE p.Gly210Val VAR_038624
15 ELANE p.Gly214Arg VAR_038625 rs137854451
16 ELANE p.Ala25Val VAR_064512 rs139623008
17 ELANE p.Ala166Thr VAR_064513 rs201788817
18 ELANE p.Pro42Leu VAR_070696
19 ELANE p.Phe43Leu VAR_070697
20 ELANE p.Met44Arg VAR_070698
21 ELANE p.Val45Glu VAR_070699
22 ELANE p.Ser46Cys VAR_070701
23 ELANE p.Ser46Phe VAR_070702 rs878855320
24 ELANE p.Leu47Pro VAR_070703 rs878855319
25 ELANE p.Leu47Arg VAR_070704
26 ELANE p.Leu49Pro VAR_070705
27 ELANE p.His53Leu VAR_070706
28 ELANE p.His53Tyr VAR_070708 rs113169188
29 ELANE p.Cys55Ser VAR_070709
30 ELANE p.Gly56Arg VAR_070710
31 ELANE p.Ala57Ser VAR_070711
32 ELANE p.Ala57Val VAR_070712 rs105752011
33 ELANE p.Leu59Pro VAR_070713
34 ELANE p.Ala61Val VAR_070715 rs137854447
35 ELANE p.Ser67Trp VAR_070718
36 ELANE p.Cys71Phe VAR_070719 rs878855315
37 ELANE p.Cys71Tyr VAR_070720
38 ELANE p.Val72Gly VAR_070721
39 ELANE p.Val80Gly VAR_070722
40 ELANE p.Arg81Pro VAR_070723
41 ELANE p.Val82Met VAR_070724
42 ELANE p.Leu84Pro VAR_070725 rs106479310
43 ELANE p.Gly85Arg VAR_070726
44 ELANE p.Val98Met VAR_070728 rs267606781
45 ELANE p.Arg103Leu VAR_070729 rs745455816
46 ELANE p.Arg103Pro VAR_070730
47 ELANE p.Ile120Phe VAR_070733 rs113169152
48 ELANE p.Ile120Asn VAR_070734
49 ELANE p.Ile120Ser VAR_070735
50 ELANE p.Leu121Pro VAR_070736

Expression for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Search GEO for disease gene expression data for Neutropenia, Severe Congenital, 1, Autosomal Dominant.

Pathways for Neutropenia, Severe Congenital, 1, Autosomal Dominant

GO Terms for Neutropenia, Severe Congenital, 1, Autosomal Dominant

Cellular components related to Neutropenia, Severe Congenital, 1, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phagocytic vesicle GO:0045335 8.62 TCIRG1 ELANE

Biological processes related to Neutropenia, Severe Congenital, 1, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 8.96 TCIRG1 ELANE
2 cellular calcium ion homeostasis GO:0006874 8.62 TCIRG1 ELANE

Sources for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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
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