MCID: NTR036
MIFTS: 23

Neutropenia, Severe Congenital, X-Linked

Categories: Genetic diseases, Rare diseases, Blood 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 75 13 55 73
Severe Congenital Neutropenia X-Linked 53 29 6
Xln 57 53 75
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:

OMIM 57 300299
Orphanet 59 ORPHA86788
ICD10 via Orphanet 34 D70
UMLS via Orphanet 74 C1845987
MedGen 42 C1845987
MeSH 44 D009503
UMLS 73 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: 86788Disease definitionThis syndrome 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 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 (Wiskott-Aldrich Syndrome). Affiliated tissues include neutrophil, t cells and skin, and related phenotypes are neutropenia and recurrent bacterial infections

UniProtKB/Swiss-Prot : 75 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 11.1
2 neutropenia 9.9
3 severe congenital neutropenia 9.9

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

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

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

59 32
# 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
5 congenital neutropenia 32 HP:0005549

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, T Cells, Skin

Publications for Neutropenia, Severe Congenital, X-Linked

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

# Title Authors Year
1
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. ( 11242115 )
2001

Variations for Neutropenia, Severe Congenital, X-Linked

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

75
# 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 all 26)
# 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.273+11dupC duplication Benign rs58371799 GRCh37 Chromosome X, 48542823: 48542823
10 WAS NM_000377.2(WAS): c.273+11dupC duplication Benign rs58371799 GRCh38 Chromosome X, 48684434: 48684434
11 WAS NM_000377.2(WAS): c.873C> T (p.Tyr291=) single nucleotide variant Benign rs149123892 GRCh37 Chromosome X, 48546784: 48546784
12 WAS NM_000377.2(WAS): c.873C> T (p.Tyr291=) single nucleotide variant Benign rs149123892 GRCh38 Chromosome X, 48688395: 48688395
13 WAS NM_000377.2(WAS): c.777+1G> A single nucleotide variant Pathogenic rs1057517845 GRCh37 Chromosome X, 48546486: 48546486
14 WAS NM_000377.2(WAS): c.777+1G> A single nucleotide variant Pathogenic rs1057517845 GRCh38 Chromosome X, 48688097: 48688097
15 WAS NM_000377.2(WAS): c.90C> T (p.His30=) single nucleotide variant Benign rs148800063 GRCh38 Chromosome X, 48683943: 48683943
16 WAS NM_000377.2(WAS): c.90C> T (p.His30=) single nucleotide variant Benign rs148800063 GRCh37 Chromosome X, 48542332: 48542332
17 WAS NM_000377.2(WAS): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 48542810: 48542810
18 WAS NM_000377.2(WAS): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 48684421: 48684421
19 WAS NM_000377.2(WAS): c.897G> A (p.Gly299=) single nucleotide variant Likely benign rs782793103 GRCh38 Chromosome X, 48688419: 48688419
20 WAS NM_000377.2(WAS): c.897G> A (p.Gly299=) single nucleotide variant Likely benign rs782793103 GRCh37 Chromosome X, 48546808: 48546808
21 WAS NM_000377.2(WAS): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic GRCh38 Chromosome X, 48683944: 48683944
22 WAS NM_000377.2(WAS): c.91G> A (p.Glu31Lys) single nucleotide variant Pathogenic GRCh37 Chromosome X, 48542333: 48542333
23 WAS NM_000377.2(WAS): c.985C> G (p.Pro329Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 48688713: 48688713
24 WAS NM_000377.2(WAS): c.985C> G (p.Pro329Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 48547102: 48547102
25 WAS NM_000377.2(WAS): c.360+8A> G single nucleotide variant Likely benign GRCh37 Chromosome X, 48544030: 48544030
26 WAS NM_000377.2(WAS): c.360+8A> G single nucleotide variant Likely benign GRCh38 Chromosome X, 48685641: 48685641

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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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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