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 56 73 13 54 71
Severe Congenital Neutropenia X-Linked 52 29 6
Xln 56 52 73
X-Linked Severe Congenital Neutropenia 52 58
Neutropenia, Congenital, Severe, X-Linked 39
Scnx 56

Characteristics:

Orphanet epidemiological data:

58
x-linked severe congenital neutropenia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
x-linked recessive

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


HPO:

31
neutropenia, severe congenital, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 300299
OMIM Phenotypic Series 56 PS202700
MeSH 43 D009503
ICD10 via Orphanet 33 D70
UMLS via Orphanet 72 C1845987
Orphanet 58 ORPHA86788
MedGen 41 C1845987
UMLS 71 C1845987

Summaries for Neutropenia, Severe Congenital, X-Linked

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86788 Definition X-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 : 73 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:

# 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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001875
2 recurrent bacterial infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002718
3 monocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012312
4 abnormality of the skin 31 HP:0000951

Symptoms via clinical synopsis from OMIM:

56
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:

40
Neutrophil, Skin, T Cells

Publications for Neutropenia, Severe Congenital, X-Linked

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

# Title Authors PMID Year
1
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. 54 61 56 6
11242115 2001
2
A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene. 56 6
19006568 2009
3
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. 56 6
16804117 2006
4
Congenital neutropenia and low serum immunoglobulin A: description and investigation of a large kindred. 56 6
3284030 1988
5
Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes. 56
20513746 2010
6
WAS-Related Disorders 6
20301357 2004
7
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. 61
19036076 2009
8
Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. 54
15203732 2004
9
A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome. 61
14612970 2003
10
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. 54
11877312 2002

Variations for Neutropenia, Severe Congenital, X-Linked

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

6 (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WAS NM_000377.2(WAS):c.257G>A (p.Arg86His)SNV Pathogenic 11115 rs132630268 X:48542796-48542796 X:48684407-48684407
2 WAS NM_000377.2(WAS):c.809T>C (p.Leu270Pro)SNV Pathogenic 11125 rs132630274 X:48546720-48546720 X:48688331-48688331
3 WAS NM_000377.2(WAS):c.814T>C (p.Ser272Pro)SNV Pathogenic 29966 rs387906716 X:48546725-48546725 X:48688336-48688336
4 WAS NM_000377.2(WAS):c.881T>C (p.Ile294Thr)SNV Pathogenic 29967 rs387906717 X:48546792-48546792 X:48688403-48688403
5 WAS NM_000377.2(WAS):c.961C>T (p.Arg321Ter)SNV Pathogenic 449515 rs1557007123 X:48547078-48547078 X:48688689-48688689
6 WAS NM_000377.2(WAS):c.1058del (p.Pro353fs)deletion Pathogenic 449516 rs1557007165 X:48547171-48547171 X:48688782-48688782
7 WAS NM_000377.2(WAS):c.271C>T (p.Gln91Ter)SNV Pathogenic 528221 rs1557006354 X:48542810-48542810 X:48684421-48684421
8 WAS NM_000377.2(WAS):c.223G>A (p.Val75Met)SNV Pathogenic 265289 rs782290433 X:48542762-48542762 X:48684373-48684373
9 WAS NM_000377.2(WAS):c.777+1G>ASNV Pathogenic 372546 rs1057517845 X:48546486-48546486 X:48688097-48688097
10 WAS NM_000377.2(WAS):c.1001del (p.Gly334fs)deletion Pathogenic 574368 rs1569494025 X:48547113-48547113 X:48688724-48688724
11 WAS NM_000377.2(WAS):c.734+2T>ASNV Pathogenic 577637 rs1569493877 X:48545346-48545346 X:48686957-48686957
12 WAS NM_000377.2(WAS):c.355G>T (p.Gly119Ter)SNV Pathogenic 660964 X:48544017-48544017 X:48685628-48685628
13 WAS NM_000377.2(WAS):c.470_471del (p.Arg157fs)deletion Pathogenic 643344 X:48544340-48544341 X:48685951-48685952
14 WAS NM_000377.2(WAS):c.631C>T (p.Arg211Ter)SNV Pathogenic 647830 X:48545241-48545241 X:48686852-48686852
15 WAS NM_000377.2(WAS):c.660_664del (p.Ser221_Pro222insTer)deletion Pathogenic 641614 X:48545268-48545272 X:48686879-48686883
16 WAS NM_000377.2(WAS):c.803delinsTT (p.Arg268fs)indel Pathogenic 652576 X:48546714-48546714 X:48688325-48688325
17 WAS NM_000377.3(WAS):c.858del (p.Ser287fs)deletion Pathogenic 656534 X:48546768-48546768 X:48688379-48688379
18 WAS NM_000377.2(WAS):c.-37_132+35deldeletion Pathogenic 663734 X:48542204-48542407 X:48683815-48684018
19 WAS NM_000377.3(WAS):c.734+5G>ASNV Pathogenic 803992 X:48545349-48545349 X:48686960-48686960
20 WAS NM_000377.2(WAS):c.91G>A (p.Glu31Lys)SNV Pathogenic/Likely pathogenic 528222 rs1557006239 X:48542333-48542333 X:48683944-48683944
21 ELANE NM_001972.4(ELANE):c.598-1G>ASNV Conflicting interpretations of pathogenicity 228343 rs201117839 19:855957-855957 19:855957-855957
22 WAS NM_000377.3(WAS):c.1081C>A (p.Pro361Thr)SNV Uncertain significance 803993 X:48547198-48547198 X:48688809-48688809
23 WAS NM_000377.2(WAS):c.463+3G>CSNV Uncertain significance 647802 X:48544228-48544228 X:48685839-48685839
24 WAS NM_000377.2(WAS):c.559+8C>GSNV Uncertain significance 640549 X:48544531-48544531 X:48686142-48686142
25 WAS NM_000377.2(WAS):c.1196C>G (p.Pro399Arg)SNV Uncertain significance 658817 X:48547313-48547313 X:48688924-48688924
26 WAS NM_000377.2(WAS):c.679C>T (p.Arg227Cys)SNV Uncertain significance 660462 X:48545289-48545289 X:48686900-48686900
27 WAS NM_000377.2(WAS):c.459T>G (p.Ser153Arg)SNV Uncertain significance 657456 X:48544221-48544221 X:48685832-48685832
28 WAS NM_000377.2(WAS):c.266G>A (p.Gly89Asp)SNV Uncertain significance 656066 X:48542805-48542805 X:48684416-48684416
29 WAS NM_000377.2(WAS):c.985C>G (p.Pro329Ala)SNV Uncertain significance 528223 rs1557007136 X:48547102-48547102 X:48688713-48688713
30 WAS NM_000377.2(WAS):c.482C>A (p.Pro161Gln)SNV Uncertain significance 567234 rs1569493803 X:48544353-48544353 X:48685964-48685964
31 WAS NM_000377.2(WAS):c.1060_1062delCCAshort repeat Uncertain significance 577977 rs1569494034 X:48547174-48547176 X:48688785-48688787
32 WAS NM_000377.2(WAS):c.49G>T (p.Ala17Ser)SNV Uncertain significance 566587 rs1569493673 X:48542291-48542291 X:48683902-48683902
33 WAS NM_000377.2(WAS):c.97C>G (p.Gln33Glu)SNV Uncertain significance 566906 rs1569493682 X:48542339-48542339 X:48683950-48683950
34 WAS NM_000377.2(WAS):c.565_566delinsAG (p.Pro189Arg)indel Uncertain significance 566949 rs1569493862 X:48545175-48545176 X:48686786-48686787
35 WAS NM_000377.2(WAS):c.1208C>T (p.Pro403Leu)SNV Uncertain significance 444802 rs782666797 X:48547325-48547325 X:48688936-48688936
36 WAS NM_000377.2(WAS):c.344A>G (p.His115Arg)SNV Uncertain significance 578369 rs1569493774 X:48544006-48544006 X:48685617-48685617
37 WAS NM_000377.2(WAS):c.689A>G (p.Lys230Arg)SNV Uncertain significance 574035 rs1569493872 X:48545299-48545299 X:48686910-48686910
38 WAS NM_000377.2(WAS):c.360+8A>GSNV Likely benign 528225 rs1557006508 X:48544030-48544030 X:48685641-48685641
39 WAS NM_000377.2(WAS):c.391G>A (p.Glu131Lys)SNV Benign/Likely benign 135413 rs146220228 X:48544153-48544153 X:48685764-48685764
40 WAS NM_000377.2(WAS):c.273+11dupCduplication Benign/Likely benign 255964 rs58371799 X:48542816-48542817 X:48684427-48684428

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

73
# 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

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