SCNX
MCID: NTR036
MIFTS: 29

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 57 74 13 55 72
Severe Congenital Neutropenia X-Linked 53 29 6
Xln 57 53 74
X-Linked Severe Congenital Neutropenia 53 59
Neutropenia, Congenital, Severe, X-Linked 40
Scnx 57

Characteristics:

Orphanet epidemiological data:

59
x-linked severe congenital neutropenia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
neutropenia, severe congenital, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

MeSH 44 D009503
ICD10 via Orphanet 34 D70
UMLS via Orphanet 73 C1845987
Orphanet 59 ORPHA86788
MedGen 42 C1845987
UMLS 72 C1845987

Summaries for Neutropenia, Severe Congenital, X-Linked

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 86788DefinitionX-linked severe congenital neutropenia is an immunodeficiency syndrome 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 recessive trait 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 severe congenital 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 : 74 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.

More information from OMIM: 300299 PS202700

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:

(showing 4, show less)
# Related Disease Score Top Affiliating Genes
1 wiskott-aldrich syndrome 11.4
2 severe congenital neutropenia 10.1
3 neutropenia 10.1
4 was-related disorders 10.1

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

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

59 32 (showing 4, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neutropenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001875
2 recurrent bacterial infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002718
3 monocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0012312
4 abnormality of the skin 32 HP:0000951

Symptoms via clinical synopsis from OMIM:

57
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 29 WAS

Anatomical Context for Neutropenia, Severe Congenital, X-Linked

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

41
Neutrophil, Skin, T Cells

Publications for Neutropenia, Severe Congenital, X-Linked

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

(showing 10, show less)
# Title Authors PMID Year
1
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. 9 38 8 71
11242115 2001
2
A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. 8 71
19006568 2009
3
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. 8 71
16804117 2006
4
Congenital neutropenia and low serum immunoglobulin A: description and investigation of a large kindred. 8 71
3284030 1988
5
Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes. 8
20513746 2010
6
WAS-Related Disorders 71
20301357 2004
7
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. 38
19036076 2009
8
Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 9
15203732 2004
9
A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome. 38
14612970 2003
10
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 9
11877312 2002

Variations for Neutropenia, Severe Congenital, X-Linked

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

6 (showing 46, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WAS NM_000377.2(WAS): c.777+1G> A single nucleotide variant Pathogenic rs1057517845 X:48546486-48546486 X:48688097-48688097
2 WAS NM_000377.2(WAS): c.961C> T (p.Arg321Ter) single nucleotide variant Pathogenic rs1557007123 X:48547078-48547078 X:48688689-48688689
3 WAS NM_000377.2(WAS): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs1557006354 X:48542810-48542810 X:48684421-48684421
4 WAS NM_000377.2(WAS): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic rs132630268 X:48542796-48542796 X:48684407-48684407
5 WAS NM_000377.2(WAS): c.809T> C (p.Leu270Pro) single nucleotide variant Pathogenic rs132630274 X:48546720-48546720 X:48688331-48688331
6 WAS NM_000377.2(WAS): c.814T> C (p.Ser272Pro) single nucleotide variant Pathogenic rs387906716 X:48546725-48546725 X:48688336-48688336
7 WAS NM_000377.2(WAS): c.881T> C (p.Ile294Thr) single nucleotide variant Pathogenic rs387906717 X:48546792-48546792 X:48688403-48688403
8 WAS NM_000377.2(WAS): c.1001del (p.Gly334fs) deletion Pathogenic X:48547118-48547118 X:48688729-48688729
9 WAS NM_000377.2(WAS): c.223G> A (p.Val75Met) single nucleotide variant Pathogenic rs782290433 X:48542762-48542762 X:48684373-48684373
10 WAS NM_000377.2(WAS): c.734+2T> A single nucleotide variant Pathogenic X:48545346-48545346 X:48686957-48686957
11 WAS NM_000377.2(WAS): c.470_471del (p.Arg157fs) deletion Pathogenic X:48544340-48544341 X:48685952-48685953
12 WAS NM_000377.2(WAS): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic X:48545241-48545241 X:48686852-48686852
13 WAS NM_000377.2(WAS): c.660_664del (p.Ser221_Pro222insTer) deletion Pathogenic X:48545268-48545272 X:48686881-48686885
14 WAS NM_000377.2(WAS): c.355G> T (p.Gly119Ter) single nucleotide variant Pathogenic X:48544017-48544017 X:48685628-48685628
15 WAS NM_000377.2(WAS): c.803delinsTT (p.Arg268fs) indel Pathogenic X:48546714-48546714 X:48688325-48688325
16 WAS NM_000377.2(WAS): c.858del (p.Ser287fs) deletion Pathogenic X:48546769-48546769 X:48688380-48688380
17 WAS NM_000377.2(WAS): c.-37_132+35del deletion Pathogenic X:48542204-48542407 X:48683817-48684020
18 WAS NM_000377.2(WAS): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1557006239 X:48542333-48542333 X:48683944-48683944
19 WAS NM_000377.2(WAS): c.538C> A (p.His180Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145040665 X:48544502-48544502 X:48686113-48686113
20 WAS NM_000377.2(WAS): c.1188_1196ACCGCCACC[1] (p.Pro402_Pro404del) short repeat Uncertain significance rs193922412 X:48547314-48547322 X:48688925-48688933
21 WAS NM_000377.2(WAS): c.985C> G (p.Pro329Ala) single nucleotide variant Uncertain significance rs1557007136 X:48547102-48547102 X:48688713-48688713
22 WAS NM_000377.2(WAS): c.1208C> T (p.Pro403Leu) single nucleotide variant Uncertain significance rs782666797 X:48547325-48547325 X:48688936-48688936
23 WAS NM_000377.2(WAS): c.679C> T (p.Arg227Cys) single nucleotide variant Uncertain significance X:48545289-48545289 X:48686900-48686900
24 WAS NM_000377.2(WAS): c.266G> A (p.Gly89Asp) single nucleotide variant Uncertain significance X:48542805-48542805 X:48684416-48684416
25 WAS NM_000377.2(WAS): c.344A> G (p.His115Arg) single nucleotide variant Uncertain significance X:48544006-48544006 X:48685617-48685617
26 WAS NM_000377.2(WAS): c.689A> G (p.Lys230Arg) single nucleotide variant Uncertain significance X:48545299-48545299 X:48686910-48686910
27 WAS NM_000377.2(WAS): c.482C> A (p.Pro161Gln) single nucleotide variant Uncertain significance X:48544353-48544353 X:48685964-48685964
28 WAS NM_000377.2(WAS): c.1057_1059CCA[1] (p.Pro354del) short repeat Uncertain significance X:48547177-48547179 X:48688788-48688790
29 WAS NM_000377.2(WAS): c.49G> T (p.Ala17Ser) single nucleotide variant Uncertain significance X:48542291-48542291 X:48683902-48683902
30 WAS NM_000377.2(WAS): c.1255C> A (p.Leu419Met) single nucleotide variant Uncertain significance X:48547372-48547372 X:48688983-48688983
31 WAS NM_000377.2(WAS): c.97C> G (p.Gln33Glu) single nucleotide variant Uncertain significance X:48542339-48542339 X:48683950-48683950
32 WAS NM_000377.2(WAS): c.565_566delinsAG (p.Pro189Arg) indel Uncertain significance X:48545175-48545176 X:48686786-48686787
33 WAS NM_000377.2(WAS): c.689_691AGA[2] (p.Lys232del) short repeat Uncertain significance X:48545305-48545307 X:48686916-48686918
34 WAS NM_000377.2(WAS): c.463+3G> C single nucleotide variant Uncertain significance X:48544228-48544228 X:48685839-48685839
35 WAS NM_000377.2(WAS): c.559+8C> G single nucleotide variant Uncertain significance X:48544531-48544531 X:48686142-48686142
36 WAS NM_000377.2(WAS): c.1196C> G (p.Pro399Arg) single nucleotide variant Uncertain significance X:48547313-48547313 X:48688924-48688924
37 WAS NM_000377.2(WAS): c.459T> G (p.Ser153Arg) single nucleotide variant Uncertain significance X:48544221-48544221 X:48685832-48685832
38 WAS NM_000377.2(WAS): c.360+8A> G single nucleotide variant Likely benign rs1557006508 X:48544030-48544030 X:48685641-48685641
39 WAS NM_000377.2(WAS): c.897G> A (p.Gly299=) single nucleotide variant Likely benign rs782793103 X:48546808-48546808 X:48688419-48688419
40 WAS NM_000377.2(WAS): c.273+10_273+11dup duplication Benign/Likely benign rs58371799 X:48542822-48542823 X:48684433-48684434
41 WAS NM_000377.2(WAS): c.995T> C (p.Val332Ala) single nucleotide variant Benign/Likely benign rs2737799 X:48547112-48547112 X:48688723-48688723
42 WAS NM_000377.2(WAS): c.1378C> T (p.Pro460Ser) single nucleotide variant Benign/Likely benign rs143885622 X:48547748-48547748 X:48689359-48689359
43 WAS NM_000377.2(WAS): c.391G> A (p.Glu131Lys) single nucleotide variant Benign/Likely benign rs146220228 X:48544153-48544153 X:48685764-48685764
44 WAS NM_000377.2(WAS): c.273+11dupC duplication Benign/Likely benign rs58371799 X:48542823-48542823 X:48684434-48684434
45 WAS NM_000377.2(WAS): c.873C> T (p.Tyr291=) single nucleotide variant Benign/Likely benign rs149123892 X:48546784-48546784 X:48688395-48688395
46 WAS NM_000377.2(WAS): c.90C> T (p.His30=) single nucleotide variant Benign rs148800063 X:48542332-48542332 X:48683943-48683943

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

74 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 WAS p.Leu270Pro VAR_033256 rs132630274

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....