SCNX
MCID: NTR036
MIFTS: 24

Neutropenia, Severe Congenital, X-Linked (SCNX)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Neutropenia, Severe Congenital, X-Linked

MalaCards integrated aliases for Neutropenia, Severe Congenital, X-Linked:

Name: Neutropenia, Severe Congenital, X-Linked 58 76 13 56 74
Severe Congenital Neutropenia X-Linked 54 30 6
Xln 58 54 76
X-Linked Severe Congenital Neutropenia 54 60
Neutropenia, Congenital, Severe, X-Linked 41
Scnx 58

Characteristics:

Orphanet epidemiological data:

60
x-linked severe congenital neutropenia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
allelic to wiskott-aldrich syndrome and x-linked thrombocytopenia


HPO:

33
neutropenia, severe congenital, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

OMIM 58 300299
MeSH 45 D009503
ICD10 via Orphanet 35 D70
UMLS via Orphanet 75 C1845987
Orphanet 60 ORPHA86788
MedGen 43 C1845987
UMLS 74 C1845987

Summaries for Neutropenia, Severe Congenital, X-Linked

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 86788Disease definitionX-linked severe congenital neutropenia is an immunodeficiencysyndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessivetrait and is caused by mutations in the WAS gene, encoding the WASP protein.Visit the Orphanet disease page for more resources.

MalaCards based summary : Neutropenia, Severe Congenital, X-Linked, also known as severe congenital neutropenia x-linked, is related to wiskott-aldrich syndrome and neutropenia. An important gene associated with Neutropenia, Severe Congenital, X-Linked is WAS (WASP Actin Nucleation Promoting Factor). Affiliated tissues include neutrophil, skin and t cells, and related phenotypes are neutropenia and recurrent bacterial infections

UniProtKB/Swiss-Prot : 76 Neutropenia, severe congenital, X-linked: 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.

Description from OMIM: 300299

Related Diseases for Neutropenia, Severe Congenital, X-Linked

Diseases related to Neutropenia, Severe Congenital, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 wiskott-aldrich syndrome 11.3
2 neutropenia 10.1
3 severe congenital neutropenia 10.1

Symptoms & Phenotypes for Neutropenia, Severe Congenital, X-Linked

Human phenotypes related to Neutropenia, Severe Congenital, X-Linked:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neutropenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001875
2 recurrent bacterial infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002718
3 monocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0012312
4 abnormality of the skin 33 HP:0000951

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
no eczema

Immunology:
increased activated cd8+ t cells
decreased cd4+/cd8+ ratio
recurrent major bacterial infections
decreased cd3(-)cd16/15(+) natural killer cells
low-normal iga levels

Hematology:
severe congenital neutropenia
low to low-normal platelet count
normal mean platelet volume (mpv)

Clinical features from OMIM:

300299

Drugs & Therapeutics for Neutropenia, Severe Congenital, X-Linked

Search Clinical Trials , NIH Clinical Center for Neutropenia, Severe Congenital, X-Linked

Genetic Tests for Neutropenia, Severe Congenital, X-Linked

Genetic tests related to Neutropenia, Severe Congenital, X-Linked:

# Genetic test Affiliating Genes
1 Severe Congenital Neutropenia X-Linked 30 WAS

Anatomical Context for Neutropenia, Severe Congenital, X-Linked

MalaCards organs/tissues related to Neutropenia, Severe Congenital, X-Linked:

42
Neutrophil, Skin, T Cells

Publications for Neutropenia, Severe Congenital, X-Linked

Articles related to Neutropenia, Severe Congenital, X-Linked:

# Title Authors Year
1
A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. ( 19006568 )
2009
2
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. ( 16804117 )
2006
3
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. ( 11242115 )
2001
4
Congenital neutropenia and low serum immunoglobulin A: description and investigation of a large kindred. ( 3284030 )
1988

Variations for Neutropenia, Severe Congenital, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Neutropenia, Severe Congenital, X-Linked:

76
# Symbol AA change Variation ID SNP ID
1 WAS p.Leu270Pro VAR_033256 rs132630274

ClinVar genetic disease variations for Neutropenia, Severe Congenital, X-Linked:

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 WAS NM_000377.2(WAS): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic rs132630268 GRCh37 Chromosome X, 48542796: 48542796
2 WAS NM_000377.2(WAS): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic rs132630268 GRCh38 Chromosome X, 48684407: 48684407
3 WAS NM_000377.2(WAS): c.809T> C (p.Leu270Pro) single nucleotide variant Pathogenic rs132630274 GRCh37 Chromosome X, 48546720: 48546720
4 WAS NM_000377.2(WAS): c.809T> C (p.Leu270Pro) single nucleotide variant Pathogenic rs132630274 GRCh38 Chromosome X, 48688331: 48688331
5 WAS NM_000377.2(WAS): c.814T> C (p.Ser272Pro) single nucleotide variant Pathogenic rs387906716 GRCh37 Chromosome X, 48546725: 48546725
6 WAS NM_000377.2(WAS): c.814T> C (p.Ser272Pro) single nucleotide variant Pathogenic rs387906716 GRCh38 Chromosome X, 48688336: 48688336
7 WAS NM_000377.2(WAS): c.881T> C (p.Ile294Thr) single nucleotide variant Pathogenic rs387906717 GRCh37 Chromosome X, 48546792: 48546792
8 WAS NM_000377.2(WAS): c.881T> C (p.Ile294Thr) single nucleotide variant Pathogenic rs387906717 GRCh38 Chromosome X, 48688403: 48688403
9 WAS NM_000377.2(WAS): c.1197_1205delACCGCCACC (p.Pro402_Pro404del) deletion Uncertain significance rs193922412 GRCh37 Chromosome X, 48547314: 48547322
10 WAS NM_000377.2(WAS): c.1197_1205delACCGCCACC (p.Pro402_Pro404del) deletion Uncertain significance rs193922412 GRCh38 Chromosome X, 48688925: 48688933
11 WAS NM_000377.2(WAS): c.273+10_273+11dupCC duplication Benign/Likely benign rs58371799 GRCh37 Chromosome X, 48542822: 48542823
12 WAS NM_000377.2(WAS): c.273+10_273+11dupCC duplication Benign/Likely benign rs58371799 GRCh38 Chromosome X, 48684433: 48684434
13 WAS NM_000377.2(WAS): c.538C> A (p.His180Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145040665 GRCh37 Chromosome X, 48544502: 48544502
14 WAS NM_000377.2(WAS): c.538C> A (p.His180Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145040665 GRCh38 Chromosome X, 48686113: 48686113
15 WAS NM_000377.2(WAS): c.995T> C (p.Val332Ala) single nucleotide variant Benign/Likely benign rs2737799 GRCh37 Chromosome X, 48547112: 48547112
16 WAS NM_000377.2(WAS): c.995T> C (p.Val332Ala) single nucleotide variant Benign/Likely benign rs2737799 GRCh38 Chromosome X, 48688723: 48688723
17 WAS NM_000377.2(WAS): c.1378C> T (p.Pro460Ser) single nucleotide variant Benign/Likely benign rs143885622 GRCh37 Chromosome X, 48547748: 48547748
18 WAS NM_000377.2(WAS): c.1378C> T (p.Pro460Ser) single nucleotide variant Benign/Likely benign rs143885622 GRCh38 Chromosome X, 48689359: 48689359
19 WAS NM_000377.2(WAS): c.391G> A (p.Glu131Lys) single nucleotide variant Benign/Likely benign rs146220228 GRCh37 Chromosome X, 48544153: 48544153
20 WAS NM_000377.2(WAS): c.391G> A (p.Glu131Lys) single nucleotide variant Benign/Likely benign rs146220228 GRCh38 Chromosome X, 48685764: 48685764
21 WAS NM_000377.2(WAS): c.273+11dupC duplication Benign/Likely benign rs58371799 GRCh37 Chromosome X, 48542823: 48542823
22 WAS NM_000377.2(WAS): c.273+11dupC duplication Benign/Likely benign rs58371799 GRCh38 Chromosome X, 48684434: 48684434
23 WAS NM_000377.2(WAS): c.873C> T (p.Tyr291=) single nucleotide variant Benign/Likely benign rs149123892 GRCh37 Chromosome X, 48546784: 48546784
24 WAS NM_000377.2(WAS): c.873C> T (p.Tyr291=) single nucleotide variant Benign/Likely benign rs149123892 GRCh38 Chromosome X, 48688395: 48688395
25 WAS NM_000377.2(WAS): c.223G> A (p.Val75Met) single nucleotide variant Pathogenic rs782290433 GRCh37 Chromosome X, 48542762: 48542762
26 WAS NM_000377.2(WAS): c.223G> A (p.Val75Met) single nucleotide variant Pathogenic rs782290433 GRCh38 Chromosome X, 48684373: 48684373
27 WAS NM_000377.2(WAS): c.777+1G> A single nucleotide variant Pathogenic rs1057517845 GRCh37 Chromosome X, 48546486: 48546486
28 WAS NM_000377.2(WAS): c.777+1G> A single nucleotide variant Pathogenic rs1057517845 GRCh38 Chromosome X, 48688097: 48688097
29 WAS NM_000377.2(WAS): c.1208C> T (p.Pro403Leu) single nucleotide variant Uncertain significance rs782666797 GRCh37 Chromosome X, 48547325: 48547325
30 WAS NM_000377.2(WAS): c.1208C> T (p.Pro403Leu) single nucleotide variant Uncertain significance rs782666797 GRCh38 Chromosome X, 48688936: 48688936
31 WAS NM_000377.2(WAS): c.90C> T (p.His30=) single nucleotide variant Benign rs148800063 GRCh37 Chromosome X, 48542332: 48542332
32 WAS NM_000377.2(WAS): c.90C> T (p.His30=) single nucleotide variant Benign rs148800063 GRCh38 Chromosome X, 48683943: 48683943
33 WAS NM_000377.2(WAS): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs1557006354 GRCh37 Chromosome X, 48542810: 48542810
34 WAS NM_000377.2(WAS): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs1557006354 GRCh38 Chromosome X, 48684421: 48684421
35 WAS NM_000377.2(WAS): c.897G> A (p.Gly299=) single nucleotide variant Likely benign rs782793103 GRCh38 Chromosome X, 48688419: 48688419
36 WAS NM_000377.2(WAS): c.897G> A (p.Gly299=) single nucleotide variant Likely benign rs782793103 GRCh37 Chromosome X, 48546808: 48546808
37 WAS NM_000377.2(WAS): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1557006239 GRCh37 Chromosome X, 48542333: 48542333
38 WAS NM_000377.2(WAS): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1557006239 GRCh38 Chromosome X, 48683944: 48683944
39 WAS NM_000377.2(WAS): c.985C> G (p.Pro329Ala) single nucleotide variant Uncertain significance rs1557007136 GRCh37 Chromosome X, 48547102: 48547102
40 WAS NM_000377.2(WAS): c.985C> G (p.Pro329Ala) single nucleotide variant Uncertain significance rs1557007136 GRCh38 Chromosome X, 48688713: 48688713
41 WAS NM_000377.2(WAS): c.360+8A> G single nucleotide variant Likely benign rs1557006508 GRCh37 Chromosome X, 48544030: 48544030
42 WAS NM_000377.2(WAS): c.360+8A> G single nucleotide variant Likely benign rs1557006508 GRCh38 Chromosome X, 48685641: 48685641
43 WAS NM_000377.2(WAS): c.344A> G (p.His115Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48544006: 48544006
44 WAS NM_000377.2(WAS): c.344A> G (p.His115Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48685617: 48685617
45 WAS NM_000377.2(WAS): c.689A> G (p.Lys230Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48545299: 48545299
46 WAS NM_000377.2(WAS): c.689A> G (p.Lys230Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48686910: 48686910
47 WAS NM_000377.2(WAS): c.1001delG (p.Gly334Valfs) deletion Pathogenic GRCh37 Chromosome X, 48547118: 48547118
48 WAS NM_000377.2(WAS): c.1001delG (p.Gly334Valfs) deletion Pathogenic GRCh38 Chromosome X, 48688729: 48688729
49 WAS NM_000377.2(WAS): c.482C> A (p.Pro161Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48685964: 48685964
50 WAS NM_000377.2(WAS): c.482C> A (p.Pro161Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48544353: 48544353

Expression for Neutropenia, Severe Congenital, X-Linked

Search GEO for disease gene expression data for Neutropenia, Severe Congenital, X-Linked.

Pathways for Neutropenia, Severe Congenital, X-Linked

GO Terms for Neutropenia, Severe Congenital, X-Linked

Sources for Neutropenia, Severe Congenital, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....