Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: SVR012
MIFTS: 19

Severe Congenital Neutropenia Autosomal Dominant

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications
Sources

Aliases & Classifications for Severe Congenital Neutropenia Autosomal Dominant

About this section

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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Blood diseases Immune diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare immunological diseases


External Ids:

Orphanet 59 ORPHA486
ICD10 via Orphanet 34 D70
Sources

Summaries for Severe Congenital Neutropenia Autosomal Dominant

About this section
MalaCards based summary : Severe Congenital Neutropenia Autosomal Dominant, also known as autosomal dominant severe congenital neutropenia, is related to severe congenital neutropenia and neutropenia. An important gene associated with Severe Congenital Neutropenia Autosomal Dominant is ELANE (Elastase, Neutrophil Expressed). Affiliated tissues include bone, and related phenotypes are hematopoietic system and immune system

Sources

Related Diseases for Severe Congenital Neutropenia Autosomal Dominant

About this section

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
Severe Congenital Neutropenia Elane-Related Neutropenia
Severe Congenital Neutropenia Autosomal Dominant

Diseases related to Severe Congenital Neutropenia Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 severe congenital neutropenia 29.8 ELANE GFI1
2 neutropenia 29.7 ELANE GFI1
3 neutropenia, severe congenital, 2, autosomal dominant 11.5

Sources

Symptoms & Phenotypes for Severe Congenital Neutropenia Autosomal Dominant

About this section

MGI Mouse Phenotypes related to Severe Congenital Neutropenia Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.13 ELANE GFI1 TCIRG1
2 immune system MP:0005387 8.8 ELANE GFI1 TCIRG1
Sources

Drugs & Therapeutics for Severe Congenital Neutropenia Autosomal Dominant

About this section

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

Sources

Genetic Tests for Severe Congenital Neutropenia Autosomal Dominant

About this section

Genetic tests related to Severe Congenital Neutropenia Autosomal Dominant:

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

Anatomical Context for Severe Congenital Neutropenia Autosomal Dominant

About this section

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

41
Bone
Sources

Publications for Severe Congenital Neutropenia Autosomal Dominant

About this section

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
Sources

Variations for Severe Congenital Neutropenia Autosomal Dominant

About this section

ClinVar genetic disease variations for Severe Congenital Neutropenia Autosomal Dominant:

6 (show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 ELANE NM_001972.3(ELANE): c.182C> T (p.Ala61Val) single nucleotide variant Pathogenic rs137854447 GRCh37 Chromosome 19, 852990: 852990
2 ELANE NM_001972.3(ELANE): c.182C> T (p.Ala61Val) single nucleotide variant Pathogenic rs137854447 GRCh38 Chromosome 19, 852990: 852990
3 ELANE NM_001972.3(ELANE): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic rs137854448 GRCh37 Chromosome 19, 855613: 855613
4 ELANE NM_001972.3(ELANE): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic rs137854448 GRCh38 Chromosome 19, 855613: 855613
5 ELANE NM_001972.3(ELANE): c.214G> A (p.Val72Met) single nucleotide variant Pathogenic rs387906553 GRCh37 Chromosome 19, 853022: 853022
6 ELANE NM_001972.3(ELANE): c.214G> A (p.Val72Met) single nucleotide variant Pathogenic rs387906553 GRCh38 Chromosome 19, 853022: 853022
7 ELANE NM_001972.3(ELANE): c.377C> T (p.Ser126Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854450 GRCh37 Chromosome 19, 855574: 855574
8 ELANE NM_001972.3(ELANE): c.377C> T (p.Ser126Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854450 GRCh38 Chromosome 19, 855574: 855574
9 ELANE NM_001972.3(ELANE): c.211T> C (p.Cys71Arg) single nucleotide variant Pathogenic rs28931611 GRCh37 Chromosome 19, 853019: 853019
10 ELANE NM_001972.3(ELANE): c.211T> C (p.Cys71Arg) single nucleotide variant Pathogenic rs28931611 GRCh38 Chromosome 19, 853019: 853019
11 ELANE NM_001972.3(ELANE): c.292G> T (p.Val98Leu) single nucleotide variant no interpretation for the single variant rs267606781 GRCh37 Chromosome 19, 853329: 853329
12 ELANE NM_001972.3(ELANE): c.292G> T (p.Val98Leu) single nucleotide variant no interpretation for the single variant rs267606781 GRCh38 Chromosome 19, 853329: 853329
13 ELANE NM_001972.3(ELANE): c.640G> A (p.Gly214Arg) single nucleotide variant Pathogenic rs137854451 GRCh37 Chromosome 19, 856000: 856000
14 ELANE NM_001972.3(ELANE): c.640G> A (p.Gly214Arg) single nucleotide variant Pathogenic rs137854451 GRCh38 Chromosome 19, 856000: 856000
15 ELANE NM_001972.3(ELANE): c.301G> T (p.Val101Leu) single nucleotide variant no interpretation for the single variant rs137854449 GRCh37 Chromosome 19, 853338: 853338
16 ELANE NM_001972.3(ELANE): c.301G> T (p.Val101Leu) single nucleotide variant no interpretation for the single variant rs137854449 GRCh38 Chromosome 19, 853338: 853338
17 TCIRG1 NM_006019.3(TCIRG1): c.2206C> A (p.Arg736Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587779413 GRCh37 Chromosome 11, 67817691: 67817691
18 TCIRG1 NM_006019.3(TCIRG1): c.2206C> A (p.Arg736Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587779413 GRCh38 Chromosome 11, 68050224: 68050224
19 ELANE NM_001972.3(ELANE): c.606C> T (p.Ser202=) single nucleotide variant Benign/Likely benign rs17216649 GRCh37 Chromosome 19, 855966: 855966
20 ELANE NM_001972.3(ELANE): c.606C> T (p.Ser202=) single nucleotide variant Benign/Likely benign rs17216649 GRCh38 Chromosome 19, 855966: 855966
21 ELANE NM_001972.3(ELANE): c.655G> A (p.Val219Ile) single nucleotide variant Benign/Likely benign rs17216656 GRCh38 Chromosome 19, 856015: 856015
22 ELANE NM_001972.3(ELANE): c.655G> A (p.Val219Ile) single nucleotide variant Benign/Likely benign rs17216656 GRCh37 Chromosome 19, 856015: 856015
23 ELANE NM_001972.3(ELANE): c.785C> T (p.Pro262Leu) single nucleotide variant Benign/Likely benign rs17216670 GRCh38 Chromosome 19, 856145: 856145
24 ELANE NM_001972.3(ELANE): c.785C> T (p.Pro262Leu) single nucleotide variant Benign/Likely benign rs17216670 GRCh37 Chromosome 19, 856145: 856145
25 ELANE NM_001972.3(ELANE): c.561C> A (p.Cys187Ter) single nucleotide variant Pathogenic rs797045009 GRCh38 Chromosome 19, 855758: 855758
26 ELANE NM_001972.3(ELANE): c.561C> A (p.Cys187Ter) single nucleotide variant Pathogenic rs797045009 GRCh37 Chromosome 19, 855758: 855758
27 ELANE NM_001972.3(ELANE): c.597+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs879253882 GRCh38 Chromosome 19, 855799: 855799
28 ELANE NM_001972.3(ELANE): c.597+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs879253882 GRCh37 Chromosome 19, 855799: 855799
29 ELANE NM_001972.3(ELANE): c.99C> T (p.Gly33=) single nucleotide variant Benign rs17216628 GRCh38 Chromosome 19, 852907: 852907
30 ELANE NM_001972.3(ELANE): c.99C> T (p.Gly33=) single nucleotide variant Benign rs17216628 GRCh37 Chromosome 19, 852907: 852907
31 ELANE NM_001972.3(ELANE): c.171C> T (p.Ala57=) single nucleotide variant Benign/Likely benign rs201224981 GRCh38 Chromosome 19, 852979: 852979
32 ELANE NM_001972.3(ELANE): c.171C> T (p.Ala57=) single nucleotide variant Benign/Likely benign rs201224981 GRCh37 Chromosome 19, 852979: 852979
33 ELANE NM_001972.3(ELANE): c.390C> T (p.Asn130=) single nucleotide variant Benign rs17223045 GRCh37 Chromosome 19, 855587: 855587
34 ELANE NM_001972.3(ELANE): c.390C> T (p.Asn130=) single nucleotide variant Benign rs17223045 GRCh38 Chromosome 19, 855587: 855587
35 ELANE NM_001972.3(ELANE): c.654C> T (p.Phe218=) single nucleotide variant Benign/Likely benign rs148492780 GRCh37 Chromosome 19, 856014: 856014
36 ELANE NM_001972.3(ELANE): c.654C> T (p.Phe218=) single nucleotide variant Benign/Likely benign rs148492780 GRCh38 Chromosome 19, 856014: 856014
37 ELANE NM_001972.3(ELANE): c.770C> T (p.Pro257Leu) single nucleotide variant Benign/Likely benign rs17216663 GRCh38 Chromosome 19, 856130: 856130
38 ELANE NM_001972.3(ELANE): c.770C> T (p.Pro257Leu) single nucleotide variant Benign/Likely benign rs17216663 GRCh37 Chromosome 19, 856130: 856130
39 ELANE NM_001972.3(ELANE): c.119C> T (p.Ala40Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 852927: 852927
40 ELANE NM_001972.3(ELANE): c.119C> T (p.Ala40Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 852927: 852927
41 ELANE NM_001972.3(ELANE): c.16C> A (p.Arg6=) single nucleotide variant Benign rs182347433 GRCh37 Chromosome 19, 852344: 852344
42 ELANE NM_001972.3(ELANE): c.16C> A (p.Arg6=) single nucleotide variant Benign rs182347433 GRCh38 Chromosome 19, 852344: 852344
43 ELANE NM_001972.3(ELANE): c.174C> T (p.Thr58=) single nucleotide variant Likely benign rs199714513 GRCh37 Chromosome 19, 852982: 852982
44 ELANE NM_001972.3(ELANE): c.174C> T (p.Thr58=) single nucleotide variant Likely benign rs199714513 GRCh38 Chromosome 19, 852982: 852982
45 ELANE NM_001972.3(ELANE): c.24G> C (p.Ala8=) single nucleotide variant Likely benign rs199901033 GRCh38 Chromosome 19, 852352: 852352
46 ELANE NM_001972.3(ELANE): c.24G> C (p.Ala8=) single nucleotide variant Likely benign rs199901033 GRCh37 Chromosome 19, 852352: 852352
47 ELANE NM_001972.3(ELANE): c.38C> G (p.Ala13Gly) single nucleotide variant Uncertain significance rs756726256 GRCh38 Chromosome 19, 852366: 852366
48 ELANE NM_001972.3(ELANE): c.38C> G (p.Ala13Gly) single nucleotide variant Uncertain significance rs756726256 GRCh37 Chromosome 19, 852366: 852366
49 ELANE NM_001972.3(ELANE): c.172A> C (p.Thr58Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 852980: 852980
50 ELANE NM_001972.3(ELANE): c.172A> C (p.Thr58Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 852980: 852980
Sources

Expression for Severe Congenital Neutropenia Autosomal Dominant

About this section
Search GEO for disease gene expression data for Severe Congenital Neutropenia Autosomal Dominant.
Sources

Pathways for Severe Congenital Neutropenia Autosomal Dominant

About this section
Sources

GO Terms for Severe Congenital Neutropenia Autosomal Dominant

About this section

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

Sources for Severe Congenital Neutropenia Autosomal Dominant

About this section
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
42 MedGen
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
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
Content
Loading form....