BDPLT22
MCID: BLD168
MIFTS: 14

Bleeding Disorder, Platelet-Type, 22 (BDPLT22)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 22

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 22:

Name: Bleeding Disorder, Platelet-Type, 22 57 6
Bdplt22 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first decade
two sibs have been reported (last curated june 2019)


Classifications:



External Ids:

Summaries for Bleeding Disorder, Platelet-Type, 22

OMIM : 57 Platelet-type bleeding disorder-22 (BDPLT22) is an autosomal recessive bleeding disorder resulting from impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries. Platelet counts are usually normal, although platelets show abnormal morphology (summary by Berrou et al., 2018). (618462)

MalaCards based summary : Bleeding Disorder, Platelet-Type, 22, is also known as bdplt22. An important gene associated with Bleeding Disorder, Platelet-Type, 22 is EPHB2 (EPH Receptor B2).

Related Diseases for Bleeding Disorder, Platelet-Type, 22

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 22

Symptoms via clinical synopsis from OMIM:

57
Hematology:
normal platelet count
increased bleeding after minor wounds
functional platelet aggregation and activation defect

Skin Nails Hair Skin:
subcutaneous bleeding

Clinical features from OMIM:

618462

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 22

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 22

Genetic Tests for Bleeding Disorder, Platelet-Type, 22

Anatomical Context for Bleeding Disorder, Platelet-Type, 22

Publications for Bleeding Disorder, Platelet-Type, 22

Articles related to Bleeding Disorder, Platelet-Type, 22:

# Title Authors PMID Year
1
A mutation of the human EPHB2 gene leads to a major platelet functional defect. 8 71
30213874 2018
2
EphB2 regulates contact-dependent and contact-independent signaling to control platelet function. 8
25370417 2015

Variations for Bleeding Disorder, Platelet-Type, 22

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 22:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EPHB2 NM_004442.7(EPHB2): c.2236C> T (p.Arg746Cys) single nucleotide variant Pathogenic 1:23234542-23234542 1:22908049-22908049

Expression for Bleeding Disorder, Platelet-Type, 22

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 22.

Pathways for Bleeding Disorder, Platelet-Type, 22

GO Terms for Bleeding Disorder, Platelet-Type, 22

Sources for Bleeding Disorder, Platelet-Type, 22

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
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