MCID: PLT035
MIFTS: 15

Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease

Categories: Genetic diseases, Immune diseases, Blood diseases

Aliases & Classifications for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

MalaCards integrated aliases for Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease:

Name: Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease 57 75 6
Plteid 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
three patients from 2 unrelated families have been reported (last curated october 2017)
patient a was born of consanguineous parents and had a much more severe disorder than patients b and c, who were sibs


Classifications:



External Ids:

OMIM 57 617718

Summaries for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

OMIM : 57 PLTEID is an autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. More severely affected individuals have recurrent infections, vasculitis, and thrombocytopenia, whereas other patients have mild vasculitis and normal numbers of small platelets without severe infections. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies (summary by Kahr et al., 2017). (617718)

MalaCards based summary : Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease, is also known as plteid. An important gene associated with Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease is ARPC1B (Actin Related Protein 2/3 Complex Subunit 1B). Affiliated tissues include b cells and skin.

UniProtKB/Swiss-Prot : 75 Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease: An autosomal recessive disorder characterized by platelet abnormalities, vasculitis, eosinophilia, and predisposition to inflammatory diseases.

Related Diseases for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

Symptoms & Phenotypes for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Hematology:
small platelets
thrombocytopenia (patient a)
microthrombocytes
abnormally shaped platelets
dense granule deficiency in platelets
more
Skin Nails Hair Skin Histology:
leukocytoclastic vasculitis
skin deposition of igg, igm, and c3

Skeletal:
joint limitations (patient a)
bony erosions (patient a)

Skin Nails Hair Skin:
vasculitis
eczematous-like rashes

Immunology:
increased erythrocyte sedimentation rate (esr)
b-cell lymphocytosis
immune abnormalities, variable
increased serum ige and iga
autoantibodies (ana, anca)
more
Abdomen Gastrointestinal:
inflammatory bowel disease (patient a)


Clinical features from OMIM:

617718

Drugs & Therapeutics for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

Search Clinical Trials , NIH Clinical Center for Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease

Genetic Tests for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

Anatomical Context for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

MalaCards organs/tissues related to Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease:

41
B Cells, Skin

Publications for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

Variations for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

ClinVar genetic disease variations for Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARPC1B ARPC1B, 2-BP DUP, 269CT duplication Pathogenic
2 ARPC1B NM_005720.3(ARPC1B): c.314C> T (p.Ala105Val) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 99388183: 99388183
3 ARPC1B NM_005720.3(ARPC1B): c.314C> T (p.Ala105Val) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 98985806: 98985806

Expression for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

Search GEO for disease gene expression data for Platelet Abnormalities with Eosinophilia and Immune-Mediated Inflammatory Disease.

Pathways for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

GO Terms for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

Sources for Platelet Abnormalities with Eosinophilia and Immune-Mediated...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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
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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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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