MCID: SVR012
MIFTS: 17

Severe Congenital Neutropenia Autosomal Dominant

Categories: Rare diseases, Blood diseases, Genetic diseases, Bone diseases, Immune diseases, Nephrological diseases

Aliases & Classifications for Severe Congenital Neutropenia Autosomal Dominant

MalaCards integrated aliases for Severe Congenital Neutropenia Autosomal Dominant:

Name: Severe Congenital Neutropenia Autosomal Dominant 53 29 6
Autosomal Dominant Severe Congenital Neutropenia 53 59
Neutropenia, Congenital, Severe, Autosomal Dominant 40

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant severe congenital neutropenia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Orphanet 59 ORPHA486
ICD10 via Orphanet 34 D70

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 neutropenia and severe congenital neutropenia. An important gene associated with Severe Congenital Neutropenia Autosomal Dominant is ELANE (Elastase, Neutrophil Expressed). Related phenotype is hematopoietic system.

Related Diseases for Severe Congenital Neutropenia Autosomal Dominant

Symptoms & Phenotypes for Severe Congenital Neutropenia Autosomal Dominant

MGI Mouse Phenotypes related to Severe Congenital Neutropenia Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 8.8 ELANE GFI1 TCIRG1

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

Genetic tests related to Severe Congenital Neutropenia Autosomal Dominant:

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

Anatomical Context for Severe Congenital Neutropenia Autosomal Dominant

Publications for Severe Congenital Neutropenia Autosomal Dominant

Articles related to Severe Congenital Neutropenia Autosomal Dominant:

# Title Authors Year
1
Resolving a genetic paradox throughout preimplantation genetic diagnosis for autosomal dominant severe congenital neutropenia. ( 20049848 )
2010

Variations for Severe Congenital Neutropenia Autosomal Dominant

ClinVar genetic disease variations for Severe Congenital Neutropenia Autosomal Dominant:

6
(show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 ELANE NM_001972.3(ELANE): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic rs137854448 GRCh37 Chromosome 19, 855613: 855613
2 ELANE NM_001972.3(ELANE): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic rs137854448 GRCh38 Chromosome 19, 855613: 855613
3 ELANE NM_001972.3(ELANE): c.214G> A (p.Val72Met) single nucleotide variant Pathogenic rs387906553 GRCh37 Chromosome 19, 853022: 853022
4 ELANE NM_001972.3(ELANE): c.214G> A (p.Val72Met) single nucleotide variant Pathogenic rs387906553 GRCh38 Chromosome 19, 853022: 853022
5 ELANE NM_001972.3(ELANE): c.377C> T (p.Ser126Leu) single nucleotide variant Pathogenic rs137854450 GRCh37 Chromosome 19, 855574: 855574
6 ELANE NM_001972.3(ELANE): c.377C> T (p.Ser126Leu) single nucleotide variant Pathogenic rs137854450 GRCh38 Chromosome 19, 855574: 855574
7 ELANE NM_001972.3(ELANE): c.211T> C (p.Cys71Arg) single nucleotide variant Pathogenic rs28931611 GRCh37 Chromosome 19, 853019: 853019
8 ELANE NM_001972.3(ELANE): c.211T> C (p.Cys71Arg) single nucleotide variant Pathogenic rs28931611 GRCh38 Chromosome 19, 853019: 853019
9 ELANE NM_001972.3(ELANE): c.640G> A (p.Gly214Arg) single nucleotide variant Pathogenic rs137854451 GRCh37 Chromosome 19, 856000: 856000
10 ELANE NM_001972.3(ELANE): c.640G> A (p.Gly214Arg) single nucleotide variant Pathogenic rs137854451 GRCh38 Chromosome 19, 856000: 856000
11 TCIRG1 NM_006019.3(TCIRG1): c.2206C> A (p.Arg736Ser) single nucleotide variant Pathogenic rs587779413 GRCh37 Chromosome 11, 67817691: 67817691
12 TCIRG1 NM_006019.3(TCIRG1): c.2206C> A (p.Arg736Ser) single nucleotide variant Pathogenic rs587779413 GRCh38 Chromosome 11, 68050224: 68050224
13 ELANE NM_001972.3(ELANE): c.561C> A (p.Cys187Ter) single nucleotide variant Pathogenic rs797045009 GRCh38 Chromosome 19, 855758: 855758
14 ELANE NM_001972.3(ELANE): c.561C> A (p.Cys187Ter) single nucleotide variant Pathogenic rs797045009 GRCh37 Chromosome 19, 855758: 855758
15 ELANE NM_001972.3(ELANE): c.597+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs879253882 GRCh38 Chromosome 19, 855799: 855799
16 ELANE NM_001972.3(ELANE): c.597+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs879253882 GRCh37 Chromosome 19, 855799: 855799
17 ELANE NM_001972.3(ELANE): c.99C> T (p.Gly33=) single nucleotide variant Benign rs17216628 GRCh38 Chromosome 19, 852907: 852907
18 ELANE NM_001972.3(ELANE): c.99C> T (p.Gly33=) single nucleotide variant Benign rs17216628 GRCh37 Chromosome 19, 852907: 852907
19 ELANE NM_001972.3(ELANE): c.171C> T (p.Ala57=) single nucleotide variant Benign/Likely benign rs201224981 GRCh38 Chromosome 19, 852979: 852979
20 ELANE NM_001972.3(ELANE): c.171C> T (p.Ala57=) single nucleotide variant Benign/Likely benign rs201224981 GRCh37 Chromosome 19, 852979: 852979
21 ELANE NM_001972.3(ELANE): c.390C> T (p.Asn130=) single nucleotide variant Benign rs17223045 GRCh37 Chromosome 19, 855587: 855587
22 ELANE NM_001972.3(ELANE): c.390C> T (p.Asn130=) single nucleotide variant Benign rs17223045 GRCh38 Chromosome 19, 855587: 855587
23 ELANE NM_001972.3(ELANE): c.654C> T (p.Phe218=) single nucleotide variant Benign rs148492780 GRCh37 Chromosome 19, 856014: 856014
24 ELANE NM_001972.3(ELANE): c.654C> T (p.Phe218=) single nucleotide variant Benign rs148492780 GRCh38 Chromosome 19, 856014: 856014
25 ELANE NM_001972.3(ELANE): c.770C> T (p.Pro257Leu) single nucleotide variant Benign/Likely benign rs17216663 GRCh38 Chromosome 19, 856130: 856130
26 ELANE NM_001972.3(ELANE): c.770C> T (p.Pro257Leu) single nucleotide variant Benign/Likely benign rs17216663 GRCh37 Chromosome 19, 856130: 856130
27 ELANE NM_001972.3(ELANE): c.119C> T (p.Ala40Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 852927: 852927
28 ELANE NM_001972.3(ELANE): c.119C> T (p.Ala40Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 852927: 852927
29 ELANE NM_001972.3(ELANE): c.16C> A (p.Arg6=) single nucleotide variant Benign rs182347433 GRCh38 Chromosome 19, 852344: 852344
30 ELANE NM_001972.3(ELANE): c.16C> A (p.Arg6=) single nucleotide variant Benign rs182347433 GRCh37 Chromosome 19, 852344: 852344
31 ELANE NM_001972.3(ELANE): c.174C> T (p.Thr58=) single nucleotide variant Likely benign rs199714513 GRCh38 Chromosome 19, 852982: 852982
32 ELANE NM_001972.3(ELANE): c.174C> T (p.Thr58=) single nucleotide variant Likely benign rs199714513 GRCh37 Chromosome 19, 852982: 852982
33 ELANE NM_001972.3(ELANE): c.24G> C (p.Ala8=) single nucleotide variant Likely benign rs199901033 GRCh37 Chromosome 19, 852352: 852352
34 ELANE NM_001972.3(ELANE): c.24G> C (p.Ala8=) single nucleotide variant Likely benign rs199901033 GRCh38 Chromosome 19, 852352: 852352
35 ELANE NM_001972.3(ELANE): c.38C> G (p.Ala13Gly) single nucleotide variant Uncertain significance rs756726256 GRCh37 Chromosome 19, 852366: 852366
36 ELANE NM_001972.3(ELANE): c.38C> G (p.Ala13Gly) single nucleotide variant Uncertain significance rs756726256 GRCh38 Chromosome 19, 852366: 852366
37 ELANE NM_001972.3(ELANE): c.172A> C (p.Thr58Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 852980: 852980
38 ELANE NM_001972.3(ELANE): c.172A> C (p.Thr58Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 852980: 852980
39 ELANE NM_001972.3(ELANE): c.235G> C (p.Ala79Pro) single nucleotide variant Uncertain significance rs769123461 GRCh37 Chromosome 19, 853272: 853272
40 ELANE NM_001972.3(ELANE): c.235G> C (p.Ala79Pro) single nucleotide variant Uncertain significance rs769123461 GRCh38 Chromosome 19, 853272: 853272
41 ELANE NM_001972.3(ELANE): c.378G> A (p.Ser126=) single nucleotide variant Uncertain significance rs202204133 GRCh37 Chromosome 19, 855575: 855575
42 ELANE NM_001972.3(ELANE): c.378G> A (p.Ser126=) single nucleotide variant Uncertain significance rs202204133 GRCh38 Chromosome 19, 855575: 855575
43 ELANE NM_001972.3(ELANE): c.452G> A (p.Cys151Tyr) single nucleotide variant Pathogenic rs57246956 GRCh37 Chromosome 19, 855649: 855649
44 ELANE NM_001972.3(ELANE): c.452G> A (p.Cys151Tyr) single nucleotide variant Pathogenic rs57246956 GRCh38 Chromosome 19, 855649: 855649
45 ELANE NM_001972.3(ELANE): c.665G> A (p.Gly222Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 856025: 856025
46 ELANE NM_001972.3(ELANE): c.665G> A (p.Gly222Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 856025: 856025
47 ELANE NM_001972.3(ELANE): c.784C> T (p.Pro262Ser) single nucleotide variant Likely benign rs138211132 GRCh37 Chromosome 19, 856144: 856144
48 ELANE NM_001972.3(ELANE): c.784C> T (p.Pro262Ser) single nucleotide variant Likely benign rs138211132 GRCh38 Chromosome 19, 856144: 856144

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 transcriptional repressor complex GO:0017053 8.62 ELANE GFI1

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 8.62 ELANE TCIRG1

Sources for Severe Congenital Neutropenia Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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