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SCN1
MCID: NTR047
MIFTS: 36

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

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 Neutropenia, Severe Congenital, 1, Autosomal Dominant

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

Name: Neutropenia, Severe Congenital, 1, Autosomal Dominant 57 28 5
Neutropenia, Severe Congenital 1, Autosomal Dominant 57 73
Neutropenia, Severe Congenital, Autosomal Dominant 1 12 71
Scn1 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy


Classifications:

MalaCards categories:
Global: Genetic diseases Infectious diseases Rare diseases Cancer diseases
Anatomical: Blood diseases Neuronal diseases Respiratory diseases Bone diseases Immune diseases Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 202700
OMIM Phenotypic Series 57 PS202700
MeSH 43 D009503
MedGen 40 C1859966
UMLS 71 C1859966
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Summaries for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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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 08-Dec-2022)

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 marrow and monocytes, and related phenotypes are anemia and neutropenia

UniProtKB/Swiss-Prot: 73 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.
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Related Diseases for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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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 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 neutropenia, severe congenital, 9, autosomal dominant 10.9
6 epilepsy 10.0
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
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Symptoms & Phenotypes for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 30 HP:0001903
2 neutropenia 30 HP:0001875
3 eosinophilia 30 HP:0001880
4 recurrent bacterial infections 30 HP:0002718
5 thrombocytosis 30 HP:0001894
6 growth abnormality 30 HP:0001507
7 acute monocytic leukemia 30 HP:0004845
8 monocytosis 30 HP:0012311
9 increased circulating antibody level 30 HP:0010702
10 congenital agranulocytosis 30 HP:0005541

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

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

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

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

# Genetic test Affiliating Genes
1 Neutropenia, Severe Congenital, 1, Autosomal Dominant 28 ELANE
Sources

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

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

MalaCards : Neutrophil, Bone Marrow, Monocytes, Bone, Myeloid, Lung, Brain
ODiseA: Blood And Bone Marrow
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Publications for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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

(show top 50) (show all 85)
# 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 5
19036076 2009
2
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. 57 5
18611981 2008
3
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. 57 5
18028488 2008
4
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. 57 5
11001877 2000
5
Functional characteristics of circulating granulocytes in severe congenital neutropenia caused by ELANE mutations. 62 5
31176364 2019
6
Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia. 5
33318085 2022
7
Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry. 5
31321910 2019
8
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 5
30040071 2018
9
Successful second hematopoietic cell transplantation in severe congenital neutropenia. 5
29076228 2018
10
Clinical, Laboratory, and Molecular Characteristics and Remission Status in Children With Severe Congenital and Non-congenital Neutropenia. 5
30386760 2018
11
A Truncated Granulocyte Colony-stimulating Factor Receptor (G-CSFR) Inhibits Apoptosis Induced by Neutrophil Elastase G185R Mutant: IMPLICATION FOR UNDERSTANDING CSF3R GENE MUTATIONS IN SEVERE CONGENITAL NEUTROPENIA. 5
28073911 2017
12
Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia. 57
27270496 2016
13
Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders. 5
25703294 2016
14
ELANE mutant-specific activation of different UPR pathways in congenital neutropenia. 5
26567890 2016
15
Mosaicism of an ELANE mutation in an asymptomatic mother in a familial case of cyclic neutropenia. 5
25912133 2015
16
TCIRG1-associated congenital neutropenia. 5
24753205 2014
17
Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms. 5
24184683 2014
18
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. 5
23463630 2013
19
Wnt3a stimulates maturation of impaired neutrophils developed from severe congenital neutropenia patient-derived pluripotent stem cells. 5
23382209 2013
20
Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving. 5
22758217 2012
21
Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia. 5
21618407 2011
22
Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes. 5
20582973 2010
23
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia. 5
20049848 2010
24
Ela2 mutations and clinical manifestations in familial congenital neutropenia. 5
19415009 2009
25
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. 5
17436313 2007
26
Neutrophil elastase in cyclic and severe congenital neutropenia. 5
17053055 2007
27
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 5
17576681 2007
28
LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. 57
17063141 2006
29
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. 5
16551967 2006
30
Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations. 5
16737875 2006
31
A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia. 5
16079102 2005
32
Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes. 5
15657182 2005
33
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. 5
14962902 2004
34
ELANE-Related Neutropenia 5
20301705 2002
35
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. 5
11675333 2001
36
Immunodeficiency diseases caused by defects in phagocytes. 57
11106721 2000
37
Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. 57
10887102 2000
38
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. 5
10581030 1999
39
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
40
Perturbed granulopoiesis in mice with a targeted mutation in the granulocyte colony-stimulating factor receptor gene associated with severe chronic neutropenia. 57
9639496 1998
41
Statistical features of human exons and their flanking regions. 5
9536098 1998
42
High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann's syndrome). 57
9386665 1997
43
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
44
Pathophysiology and treatment of severe chronic neutropenia. 57
8624368 1996
45
The protein tyrosine kinase JAK2 is activated in neutrophils from patients with severe congenital neutropenia. 57
8541539 1995
46
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
47
Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias. 57
7529539 1994
48
Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia. 57
7514305 1994
49
A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia. 57
8490166 1993
50
Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. 57
2471075 1989
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Variations for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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

5 (show top 50) (show all 255)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELANE NM_001972.4(ELANE):c.214G>A (p.Val72Met) SNV Pathogenic
 16744 rs387906553 GRCh37: 19:853022-853022
GRCh38: 19:853022-853022
2 ELANE NM_001972.4(ELANE):c.211T>C (p.Cys71Arg) SNV Pathogenic
 16746 rs28931611 GRCh37: 19:853019-853019
GRCh38: 19:853019-853019
3 ELANE NM_001972.4(ELANE):c.561C>A (p.Cys187Ter) SNV Pathogenic
 208494 rs797045009 GRCh37: 19:855758-855758
GRCh38: 19:855758-855758
4 TCIRG1 NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) SNV Pathogenic
 127173 rs587779413 GRCh37: 11:67817691-67817691
GRCh38: 11:68050224-68050224
5 ELANE NM_001972.4(ELANE):c.452G>C (p.Cys151Ser) SNV Pathogenic
 1339552 GRCh37: 19:855649-855649
GRCh38: 19:855649-855649
6 ELANE NM_001972.4(ELANE):c.574_583del (p.Gly192fs) DEL Pathogenic
 1339651 GRCh37: 19:855768-855777
GRCh38: 19:855768-855777
7 ELANE NM_001972.4(ELANE):c.722G>A (p.Trp241Ter) SNV Pathogenic
 986920 rs2035677025 GRCh37: 19:856082-856082
GRCh38: 19:856082-856082
8 ELANE NM_001972.4(ELANE):c.1A>G (p.Met1Val) SNV Pathogenic
 1343367 GRCh37: 19:852329-852329
GRCh38: 19:852329-852329
9 ELANE NM_001972.4(ELANE):c.669C>A (p.Cys223Ter) SNV Pathogenic
 803509 rs1599294750 GRCh37: 19:856029-856029
GRCh38: 19:856029-856029
10 ELANE NM_001972.4(ELANE):c.137C>T (p.Ser46Phe) SNV Pathogenic
 372362 rs878855320 GRCh37: 19:852945-852945
GRCh38: 19:852945-852945
11 ELANE NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) SNV Pathogenic
Pathogenic
 16748 rs137854451 GRCh37: 19:856000-856000
GRCh38: 19:856000-856000
12 ELANE NM_001972.4(ELANE):c.289_300dup (p.Ala100_Val101insGlnValPheAla) DUP Pathogenic
 1693275 GRCh37: 19:853325-853326
GRCh38: 19:853325-853326
13 ELANE NM_001972.4(ELANE):c.367-8C>A SNV Pathogenic
 1402531 GRCh37: 19:855556-855556
GRCh38: 19:855556-855556
14 ELANE NM_001972.4(ELANE):c.377C>G (p.Ser126Trp) SNV Pathogenic
 1452300 GRCh37: 19:855574-855574
GRCh38: 19:855574-855574
15 ELANE NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) SNV Pathogenic
Pathogenic/Likely Pathogenic
 16743 rs137854448 GRCh37: 19:855613-855613
GRCh38: 19:855613-855613
16 ELANE NM_001972.4(ELANE):c.292G>T (p.Val98Leu) SNV Pathogenic
 16747 rs267606781 GRCh37: 19:853329-853329
GRCh38: 19:853329-853329
17 ELANE NM_001972.4(ELANE):c.597+1G>A SNV Pathogenic
Pathogenic
 242287 rs1555710005 GRCh37: 19:855795-855795
GRCh38: 19:855795-855795
18 ELANE NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) SNV Pathogenic
Pathogenic
 535843 rs57246956 GRCh37: 19:855649-855649
GRCh38: 19:855649-855649
19 ELANE NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) SNV Pathogenic
 16738 rs137854445 GRCh37: 19:856019-856019
GRCh38: 19:856019-856019
20 ELANE NM_001972.4(ELANE):c.182C>T (p.Ala61Val) SNV Pathogenic
 16740 rs137854447 GRCh37: 19:852990-852990
GRCh38: 19:852990-852990
21 ELANE NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
 16745 rs137854450 GRCh37: 19:855574-855574
GRCh38: 19:855574-855574
22 ELANE NM_001972.4(ELANE):c.597+5G>A SNV Pathogenic
 245598 rs879253882 GRCh37: 19:855799-855799
GRCh38: 19:855799-855799
23 ELANE NM_001972.4(ELANE):c.597+5G>T SNV Pathogenic
 1069597 GRCh37: 19:855799-855799
GRCh38: 19:855799-855799
24 ELANE NM_001972.4(ELANE):c.687del (p.Asp230fs) DEL Pathogenic
 1069598 GRCh37: 19:856044-856044
GRCh38: 19:856044-856044
25 ELANE NM_001972.4(ELANE):c.301G>A (p.Val101Met) SNV Pathogenic
 844491 rs137854449 GRCh37: 19:853338-853338
GRCh38: 19:853338-853338
26 ELANE NM_001972.4(ELANE):c.607G>C (p.Gly203Arg) SNV Pathogenic
Pathogenic
 939547 rs201139487 GRCh37: 19:855967-855967
GRCh38: 19:855967-855967
27 ELANE NM_001972.4(ELANE):c.169G>A (p.Ala57Thr) SNV Likely Pathogenic
 1495615 GRCh37: 19:852977-852977
GRCh38: 19:852977-852977
28 ELANE NM_001972.4(ELANE):c.622T>G (p.Cys208Gly) SNV Likely Pathogenic
 1495685 GRCh37: 19:855982-855982
GRCh38: 19:855982-855982
29 ELANE NM_001972.4(ELANE):c.368T>C (p.Leu123Pro) SNV Likely Pathogenic
 1012306 GRCh37: 19:855565-855565
GRCh38: 19:855565-855565
30 ELANE NM_001972.4(ELANE):c.641G>A (p.Gly214Glu) SNV Likely Pathogenic
 1301410 GRCh37: 19:856001-856001
GRCh38: 19:856001-856001
31 ELANE NM_001972.4(ELANE):c.308G>C (p.Arg103Pro) SNV Likely Pathogenic
 842953 rs745455816 GRCh37: 19:853345-853345
GRCh38: 19:853345-853345
32 ELANE NM_001972.4(ELANE):c.253G>A (p.Gly85Arg) SNV Likely Pathogenic
 836562 rs1405536870 GRCh37: 19:853290-853290
GRCh38: 19:853290-853290
33 ELANE NM_001972.4(ELANE):c.136T>C (p.Ser46Pro) SNV Likely Pathogenic
 952580 rs2035616857 GRCh37: 19:852944-852944
GRCh38: 19:852944-852944
34 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
35 ELANE NM_001972.4(ELANE):c.10G>A (p.Gly4Ser) SNV Uncertain Significance
Uncertain Significance
 570477 rs773460580 GRCh37: 19:852338-852338
GRCh38: 19:852338-852338
36 ELANE NM_001972.4(ELANE):c.73G>A (p.Ala25Thr) SNV Uncertain Significance
 1718175 GRCh37: 19:852881-852881
GRCh38: 19:852881-852881
37 ELANE NM_001972.4(ELANE):c.431G>A (p.Arg144His) SNV Uncertain Significance
 242281 rs142441575 GRCh37: 19:855628-855628
GRCh38: 19:855628-855628
38 ELANE NM_001972.4(ELANE):c.556G>A (p.Val186Ile) SNV Uncertain Significance
 265118 rs140642538 GRCh37: 19:855753-855753
GRCh38: 19:855753-855753
39 ELANE NM_001972.4(ELANE):c.251T>C (p.Leu84Pro) SNV Uncertain Significance
 418179 rs1064793108 GRCh37: 19:853288-853288
GRCh38: 19:853288-853288
40 ELANE NM_001972.4(ELANE):c.140T>C (p.Leu47Pro) SNV Uncertain Significance
 242289 rs878855319 GRCh37: 19:852948-852948
GRCh38: 19:852948-852948
41 ELANE NM_001972.4(ELANE):c.217G>A (p.Ala73Thr) SNV Uncertain Significance
 242290 rs201421847 GRCh37: 19:853025-853025
GRCh38: 19:853025-853025
42 ELANE NM_001972.4(ELANE):c.490G>C (p.Gly164Arg) SNV Uncertain Significance
 449746 rs112990855 GRCh37: 19:855687-855687
GRCh38: 19:855687-855687
43 ELANE NM_001972.4(ELANE):c.119C>T (p.Ala40Val) SNV Uncertain Significance
 467828 rs1555709342 GRCh37: 19:852927-852927
GRCh38: 19:852927-852927
44 ELANE NM_001972.4(ELANE):c.428G>A (p.Arg143His) SNV Uncertain Significance
 515631 rs200993994 GRCh37: 19:855625-855625
GRCh38: 19:855625-855625
45 ELANE NM_001972.4(ELANE):c.235G>C (p.Ala79Pro) SNV Uncertain Significance
 535844 rs769123461 GRCh37: 19:853272-853272
GRCh38: 19:853272-853272
46 ELANE NM_001972.4(ELANE):c.702G>A (p.Pro234=) SNV Uncertain Significance
 668759 rs202059602 GRCh37: 19:856062-856062
GRCh38: 19:856062-856062
47 ELANE NM_001972.4(ELANE):c.378G>A (p.Ser126=) SNV Uncertain Significance
 535839 rs202204133 GRCh37: 19:855575-855575
GRCh38: 19:855575-855575
48 ELANE NM_001972.4(ELANE):c.172A>C (p.Thr58Pro) SNV Uncertain Significance
 535840 rs1555709360 GRCh37: 19:852980-852980
GRCh38: 19:852980-852980
49 ELANE NM_001972.4(ELANE):c.38C>G (p.Ala13Gly) SNV Uncertain Significance
 535841 rs756726256 GRCh37: 19:852366-852366
GRCh38: 19:852366-852366
50 ELANE NM_001972.4(ELANE):c.665G>A (p.Gly222Asp) SNV Uncertain Significance
 535842 rs1555710104 GRCh37: 19:856025-856025
GRCh38: 19:856025-856025

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

73 (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 rs1555710077
14 ELANE p.Gly210Val VAR_038624
15 ELANE p.Gly214Arg VAR_038625 rs137854451
16 ELANE p.Ala25Val VAR_064512 rs1396230082
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 rs1131691882
29 ELANE p.Cys55Ser VAR_070709
30 ELANE p.Gly56Arg VAR_070710
31 ELANE p.Ala57Ser VAR_070711
32 ELANE p.Ala57Val VAR_070712 rs1057520110
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 rs1064793108
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 rs1131691520
48 ELANE p.Ile120Asn VAR_070734
49 ELANE p.Ile120Ser VAR_070735
50 ELANE p.Leu121Pro VAR_070736

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Expression for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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

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

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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 8.8 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 cellular calcium ion homeostasis GO:0006874 8.92 TCIRG1 ELANE
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Sources for Neutropenia, Severe Congenital, 1, Autosomal Dominant

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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