WAS2
MCID: WSK002
MIFTS: 31

Wiskott-Aldrich Syndrome 2 (WAS2)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Wiskott-Aldrich Syndrome 2

MalaCards integrated aliases for Wiskott-Aldrich Syndrome 2:

Name: Wiskott-Aldrich Syndrome 2 57 73 28 5 71
Wipf1 Deficiency 57 73
Was2 57 73
Wip Deficiency 57

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in infancy
early death (in some patients)
hematopoietic stem cell transplantation is curative


Classifications:



External Ids:

OMIM® 57 614493
MeSH 43 D014923
MedGen 40 C3281001
UMLS 71 C3281001

Summaries for Wiskott-Aldrich Syndrome 2

OMIM®: 57 Wiskott-Aldrich syndrome-2 (WAS2) is an autosomal recessive immunologic disorder characterized by onset of recurrent infections in infancy. Other features include thrombocytopenia with normal platelet volume and eczema. Laboratory studies show decreased CD8+ T cells, variably increased Ig, particularly IgE, low B cells, aberrant function of T and NK cells, and impaired T-cell migration. The cellular abnormalities are thought to result from defective F-actin polymerization. Death in early childhood may occur; hematopoietic stem cell transplantation is curative (summary by Lanzi et al., 2012). For a discussion of genetic heterogeneity of Wiskott-Aldrich syndrome, see WAS (301000). (614493) (Updated 24-Oct-2022)

MalaCards based summary: Wiskott-Aldrich Syndrome 2, also known as wipf1 deficiency, is related to wiskott-aldrich syndrome and immune deficiency disease. An important gene associated with Wiskott-Aldrich Syndrome 2 is WIPF1 (WAS/WASL Interacting Protein Family Member 1). Affiliated tissues include nk cells, t cells and b cells, and related phenotypes are thrombocytopenia and eczema

UniProtKB/Swiss-Prot: 73 An immunodeficiency disorder characterized by eczema, thrombocytopenia, recurrent infections, defective T-cell proliferation, and impaired natural killer cell function.

Related Diseases for Wiskott-Aldrich Syndrome 2

Diseases in the Wiskott-Aldrich Syndrome family:

Wiskott-Aldrich Syndrome, Autosomal Dominant Wiskott-Aldrich Syndrome 2

Diseases related to Wiskott-Aldrich Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 wiskott-aldrich syndrome 10.3
2 immune deficiency disease 10.0
3 combined immunodeficiency 10.0
4 dermatitis 10.0

Symptoms & Phenotypes for Wiskott-Aldrich Syndrome 2

Human phenotypes related to Wiskott-Aldrich Syndrome 2:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 30 Very rare (1%) HP:0001873
2 eczema 30 Very rare (1%) HP:0000964
3 recurrent infections 30 Very rare (1%) HP:0002719
4 decreased proportion of cd8-positive t cells 30 Very rare (1%) HP:0005415
5 reduced natural killer cell activity 30 Very rare (1%) HP:0012178
6 defective t cell proliferation 30 Very rare (1%) HP:0030253

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Immunology:
immunodeficiency
recurrent infections
bacterial and viral infections
decreased t cells, particularly cd8+
dysfunctional t cells
more
Head And Neck Ears:
otitis media

Respiratory:
pneumonia, recurrent
pneumonitis

Hematology:
thrombocytopenia
normal platelet volume

Abdomen Gastrointestinal:
gastrointestinal bleeding
diarrhea, chronic

Head And Neck Mouth:
ulcerative mucosal lesions

Clinical features from OMIM®:

614493 (Updated 24-Oct-2022)

Drugs & Therapeutics for Wiskott-Aldrich Syndrome 2

Search Clinical Trials, NIH Clinical Center for Wiskott-Aldrich Syndrome 2

Genetic Tests for Wiskott-Aldrich Syndrome 2

Genetic tests related to Wiskott-Aldrich Syndrome 2:

# Genetic test Affiliating Genes
1 Wiskott-Aldrich Syndrome 2 28 WIPF1

Anatomical Context for Wiskott-Aldrich Syndrome 2

Organs/tissues related to Wiskott-Aldrich Syndrome 2:

MalaCards : Nk Cells, T Cells, B Cells, Bone Marrow, Bone, Ovary
ODiseA: Blood And Bone Marrow

Publications for Wiskott-Aldrich Syndrome 2

Articles related to Wiskott-Aldrich Syndrome 2:

(show all 23)
# Title Authors PMID Year
1
Hematopoietic stem cell transplantation corrects WIP deficiency. 62 57 5
27742395 2017
2
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. 62 57 5
22231303 2012
3
Atypical Wiskott-Aldrich syndrome in a girl. 57
1515642 1992
4
Wiskott Aldrich Syndrome-2 Caused by Novel Wiskott Aldrich Syndrome Protein-Interacting Protein (WIP) Deficiency Is Associated with Juvenile Myelomonocytic Leukaemia - a Case Report. 62
36169901 2022
5
The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity. 62
34797428 2022
6
Crosstalk between WIP and Rho family GTPases. 62
29172947 2020
7
Letrozole and human menopausal gonadotropin for ovulation induction in clomiphene resistance polycystic ovary syndrome patients: A randomized controlled study. 62
31977842 2020
8
[Material properties and tensile strength prediction model of traditional Chinese medicine tablets based on PCA-RBF neural network]. 62
32237385 2019
9
The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV. 62
30450104 2018
10
WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly. 62
28903942 2017
11
Electronic structure and topological properties of centrosymmetric MoAs2/WAs2 from first principles. 62
28874735 2017
12
WASP-WIP complex in the molecular pathogenesis of Wiskott-Aldrich syndrome. 62
26331277 2016
13
Neuritic complexity of hippocampal neurons depends on WIP-mediated mTORC1 and Abl family kinases activities. 62
26664784 2015
14
Wiskott-Aldrich Syndrome Interacting Protein Deficiency Uncovers the Role of the Co-receptor CD19 as a Generic Hub for PI3 Kinase Signaling in B Cells. 62
26453379 2015
15
WIP regulates persistence of cell migration and ruffle formation in both mesenchymal and amoeboid modes of motility. 62
23950925 2013
16
WIP is a negative regulator of neuronal maturation and synaptic activity. 62
21810783 2012
17
WIP remodeling actin behind the scenes: how WIP reshapes immune and other functions. 62
22837718 2012
18
A role for WASP Interacting Protein, WIP, in fibroblast adhesion, spreading and migration. 62
17008118 2007
19
WIP null mice display a progressive immunological disorder that resembles Wiskott-Aldrich syndrome. 62
17086554 2007
20
WIP deficiency reveals a differential role for WIP and the actin cytoskeleton in T and B cell activation. 62
11869681 2002
21
Two-colour flow cytometry study of lymphocyte subpopulations in patients with primary immunodeficiencies. 62
1717014 1991
22
Allogeneic bone marrow transplantation in children from other than HLA-identical sibling donor. 62
1855074 1991
23
[Wiskott-Aldrich syndrome. 2 familial cases]. 62
5142396 1971

Variations for Wiskott-Aldrich Syndrome 2

ClinVar genetic disease variations for Wiskott-Aldrich Syndrome 2:

5 (show top 50) (show all 160)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WIPF1 NM_001375834.1(WIPF1):c.709C>T (p.Gln237Ter) SNV Pathogenic
976496 rs1684878263 GRCh37: 2:175436824-175436824
GRCh38: 2:174572096-174572096
2 WIPF1 NM_001375834.1(WIPF1):c.1301C>G (p.Ser434Ter) SNV Pathogenic
30266 rs1574785867 GRCh37: 2:175432630-175432630
GRCh38: 2:174567902-174567902
3 WIPF1 NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu) SNV Conflicting Interpretations Of Pathogenicity
472919 rs149434153 GRCh37: 2:175436496-175436496
GRCh38: 2:174571768-174571768
4 WIPF1 NM_001375834.1(WIPF1):c.1084A>G (p.Ser362Gly) SNV Uncertain Significance
540142 rs147847123 GRCh37: 2:175436449-175436449
GRCh38: 2:174571721-174571721
5 WIPF1 NM_001375834.1(WIPF1):c.235G>A (p.Gly79Arg) SNV Uncertain Significance
Uncertain Significance
540143 rs531744802 GRCh37: 2:175440055-175440055
GRCh38: 2:174575327-174575327
6 WIPF1 NM_001375834.1(WIPF1):c.1085G>A (p.Ser362Asn) SNV Uncertain Significance
540144 rs779795011 GRCh37: 2:175436448-175436448
GRCh38: 2:174571720-174571720
7 WIPF1 NM_001375834.1(WIPF1):c.860C>T (p.Pro287Leu) SNV Uncertain Significance
570714 rs891642872 GRCh37: 2:175436673-175436673
GRCh38: 2:174571945-174571945
8 WIPF1 NM_001375834.1(WIPF1):c.100A>G (p.Asn34Asp) SNV Uncertain Significance
580567 rs373043385 GRCh37: 2:175446119-175446119
GRCh38: 2:174581391-174581391
9 WIPF1 NM_001375834.1(WIPF1):c.712T>C (p.Ser238Pro) SNV Uncertain Significance
661373 rs1185793589 GRCh37: 2:175436821-175436821
GRCh38: 2:174572093-174572093
10 WIPF1 NM_001375834.1(WIPF1):c.473G>A (p.Arg158Lys) SNV Uncertain Significance
661880 rs148175242 GRCh37: 2:175437060-175437060
GRCh38: 2:174572332-174572332
11 WIPF1 NM_001375834.1(WIPF1):c.1122C>T (p.Gly374=) SNV Uncertain Significance
1425049 GRCh37: 2:175436411-175436411
GRCh38: 2:174571683-174571683
12 WIPF1 NM_001375834.1(WIPF1):c.181A>C (p.Lys61Gln) SNV Uncertain Significance
1423801 GRCh37: 2:175446038-175446038
GRCh38: 2:174581310-174581310
13 WIPF1 NM_001375834.1(WIPF1):c.857C>T (p.Pro286Leu) SNV Uncertain Significance
1426072 GRCh37: 2:175436676-175436676
GRCh38: 2:174571948-174571948
14 WIPF1 NM_001375834.1(WIPF1):c.827C>G (p.Ser276Cys) SNV Uncertain Significance
1437820 GRCh37: 2:175436706-175436706
GRCh38: 2:174571978-174571978
15 WIPF1 NM_001375834.1(WIPF1):c.469C>T (p.His157Tyr) SNV Uncertain Significance
1466371 GRCh37: 2:175437064-175437064
GRCh38: 2:174572336-174572336
16 WIPF1 NM_001375834.1(WIPF1):c.1258C>T (p.Pro420Ser) SNV Uncertain Significance
1462702 GRCh37: 2:175432673-175432673
GRCh38: 2:174567945-174567945
17 WIPF1 NM_001375834.1(WIPF1):c.1373C>T (p.Pro458Leu) SNV Uncertain Significance
1470476 GRCh37: 2:175431881-175431881
GRCh38: 2:174567153-174567153
18 WIPF1 NM_001375834.1(WIPF1):c.664T>G (p.Phe222Val) SNV Uncertain Significance
1490416 GRCh37: 2:175436869-175436869
GRCh38: 2:174572141-174572141
19 WIPF1 NM_001375834.1(WIPF1):c.1133C>T (p.Pro378Leu) SNV Uncertain Significance
1493985 GRCh37: 2:175432798-175432798
GRCh38: 2:174568070-174568070
20 WIPF1 NM_001375834.1(WIPF1):c.1303A>G (p.Thr435Ala) SNV Uncertain Significance
1498553 GRCh37: 2:175432628-175432628
GRCh38: 2:174567900-174567900
21 WIPF1 NC_000002.11:g.(?_175427255)_(175450321_?)dup DUP Uncertain Significance
646952 GRCh37: 2:175427255-175450321
GRCh38: 2:174562527-174585593
22 WIPF1 NM_001375834.1(WIPF1):c.1412C>T (p.Thr471Met) SNV Uncertain Significance
1163805 GRCh37: 2:175431842-175431842
GRCh38: 2:174567114-174567114
23 WIPF1 NM_001375834.1(WIPF1):c.55A>C (p.Asn19His) SNV Uncertain Significance
1368741 GRCh37: 2:175446164-175446164
GRCh38: 2:174581436-174581436
24 WIPF1 NM_001375834.1(WIPF1):c.757C>T (p.Pro253Ser) SNV Uncertain Significance
1374043 GRCh37: 2:175436776-175436776
GRCh38: 2:174572048-174572048
25 WIPF1 NM_001375834.1(WIPF1):c.409T>C (p.Ser137Pro) SNV Uncertain Significance
1400666 GRCh37: 2:175437124-175437124
GRCh38: 2:174572396-174572396
26 WIPF1 NM_001375834.1(WIPF1):c.1505C>T (p.Pro502Leu) SNV Uncertain Significance
1397338 GRCh37: 2:175427282-175427282
GRCh38: 2:174562554-174562554
27 WIPF1 NM_001375834.1(WIPF1):c.392C>T (p.Pro131Leu) SNV Uncertain Significance
1499640 GRCh37: 2:175437141-175437141
GRCh38: 2:174572413-174572413
28 WIPF1 NM_001375834.1(WIPF1):c.778T>A (p.Leu260Met) SNV Uncertain Significance
1483958 GRCh37: 2:175436755-175436755
GRCh38: 2:174572027-174572027
29 WIPF1 NM_001375834.1(WIPF1):c.1162A>C (p.Asn388His) SNV Uncertain Significance
973616 rs1684719141 GRCh37: 2:175432769-175432769
GRCh38: 2:174568041-174568041
30 WIPF1 NM_001375834.1(WIPF1):c.211G>A (p.Gly71Ser) SNV Uncertain Significance
1353120 GRCh37: 2:175440079-175440079
GRCh38: 2:174575351-174575351
31 WIPF1 NM_001375834.1(WIPF1):c.694G>A (p.Gly232Arg) SNV Uncertain Significance
1373146 GRCh37: 2:175436839-175436839
GRCh38: 2:174572111-174572111
32 WIPF1 NM_001375834.1(WIPF1):c.1453C>T (p.Arg485Trp) SNV Uncertain Significance
1400723 GRCh37: 2:175431801-175431801
GRCh38: 2:174567073-174567073
33 WIPF1 NM_001375834.1(WIPF1):c.679G>T (p.Gly227Cys) SNV Uncertain Significance
1392441 GRCh37: 2:175436854-175436854
GRCh38: 2:174572126-174572126
34 WIPF1 NM_001375834.1(WIPF1):c.1289C>A (p.Pro430Gln) SNV Uncertain Significance
1401726 GRCh37: 2:175432642-175432642
GRCh38: 2:174567914-174567914
35 WIPF1 NM_001375834.1(WIPF1):c.971G>A (p.Ser324Asn) SNV Uncertain Significance
1401989 GRCh37: 2:175436562-175436562
GRCh38: 2:174571834-174571834
36 WIPF1 NM_001375834.1(WIPF1):c.244G>A (p.Gly82Arg) SNV Uncertain Significance
1389539 GRCh37: 2:175440046-175440046
GRCh38: 2:174575318-174575318
37 WIPF1 NM_001375834.1(WIPF1):c.870C>G (p.Asn290Lys) SNV Uncertain Significance
1427708 GRCh37: 2:175436663-175436663
GRCh38: 2:174571935-174571935
38 WIPF1 NM_001375834.1(WIPF1):c.1196C>G (p.Pro399Arg) SNV Uncertain Significance
1431031 GRCh37: 2:175432735-175432735
GRCh38: 2:174568007-174568007
39 WIPF1 NM_001375834.1(WIPF1):c.1316A>G (p.Asn439Ser) SNV Uncertain Significance
1443055 GRCh37: 2:175432615-175432615
GRCh38: 2:174567887-174567887
40 WIPF1 NM_001375834.1(WIPF1):c.56A>G (p.Asn19Ser) SNV Uncertain Significance
1445223 GRCh37: 2:175446163-175446163
GRCh38: 2:174581435-174581435
41 WIPF1 NM_001375834.1(WIPF1):c.1034C>T (p.Thr345Met) SNV Uncertain Significance
1474173 GRCh37: 2:175436499-175436499
GRCh38: 2:174571771-174571771
42 WIPF1 NM_001375834.1(WIPF1):c.267_287dup (p.Gly90_Gly96dup) DUP Uncertain Significance
1499732 GRCh37: 2:175440002-175440003
GRCh38: 2:174575274-174575275
43 WIPF1 NM_001375834.1(WIPF1):c.51+4_51+7del DEL Uncertain Significance
1500363 GRCh37: 2:175450244-175450247
GRCh38: 2:174585516-174585519
44 WIPF1 NM_001375834.1(WIPF1):c.320G>C (p.Gly107Ala) SNV Uncertain Significance
1350802 GRCh37: 2:175439970-175439970
GRCh38: 2:174575242-174575242
45 WIPF1 NM_001375834.1(WIPF1):c.10C>G (p.Pro4Ala) SNV Uncertain Significance
1348445 GRCh37: 2:175450292-175450292
GRCh38: 2:174585564-174585564
46 WIPF1 NM_001375834.1(WIPF1):c.13C>T (p.Pro5Ser) SNV Uncertain Significance
1351119 GRCh37: 2:175450289-175450289
GRCh38: 2:174585561-174585561
47 WIPF1 NM_001375834.1(WIPF1):c.51G>A (p.Leu17=) SNV Uncertain Significance
291203 rs535169609 GRCh37: 2:175450251-175450251
GRCh38: 2:174585523-174585523
48 WIPF1 NM_001375834.1(WIPF1):c.851CTC[3] (p.Pro287del) MICROSAT Uncertain Significance
Likely Benign
658041 rs556678311 GRCh37: 2:175436671-175436673
GRCh38: 2:174571943-174571945
49 WIPF1 NM_001375834.1(WIPF1):c.255_269del (p.Gly86_Gly90del) DEL Uncertain Significance
835892 rs561738348 GRCh37: 2:175440021-175440035
GRCh38: 2:174575293-174575307
50 WIPF1 NM_001375834.1(WIPF1):c.848C>G (p.Pro283Arg) SNV Uncertain Significance
844957 rs369736015 GRCh37: 2:175436685-175436685
GRCh38: 2:174571957-174571957

Expression for Wiskott-Aldrich Syndrome 2

Search GEO for disease gene expression data for Wiskott-Aldrich Syndrome 2.

Pathways for Wiskott-Aldrich Syndrome 2

GO Terms for Wiskott-Aldrich Syndrome 2

Sources for Wiskott-Aldrich Syndrome 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
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29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
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48 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
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72 UMLS via Orphanet
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