BDPLT22
MCID: BLD168
MIFTS: 17

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 56 6
Bdplt22 56 73
Bleeding Disorder, Platelet-Type 22 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
bleeding disorder, platelet-type, 22:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618462
OMIM Phenotypic Series 56 PS231200
SNOMED-CT via HPO 68 258211005

Summaries for Bleeding Disorder, Platelet-Type, 22

OMIM : 56 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). Affiliated tissues include bone, and related phenotypes are subcutaneous hemorrhage and excessive bleeding from superficial cuts

UniProtKB/Swiss-Prot : 73 Bleeding disorder, platelet-type 22: An autosomal recessive disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after minor injuries, and menorrhagia.

Related Diseases for Bleeding Disorder, Platelet-Type, 22

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

Human phenotypes related to Bleeding Disorder, Platelet-Type, 22:

31
# Description HPO Frequency HPO Source Accession
1 subcutaneous hemorrhage 31 HP:0001933
2 excessive bleeding from superficial cuts 31 HP:0030138
3 impaired platelet aggregation 31 HP:0003540

Symptoms via clinical synopsis from OMIM:

56
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

MalaCards organs/tissues related to Bleeding Disorder, Platelet-Type, 22:

40
Bone

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. 56 6
30213874 2018
2
EphB2 regulates contact-dependent and contact-independent signaling to control platelet function. 56
25370417 2015

Variations for Bleeding Disorder, Platelet-Type, 22

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EPHB2 NM_004442.7(EPHB2):c.2236C>T (p.Arg746Cys)SNV Pathogenic 633783 rs761749948 1:23234542-23234542 1:22908049-22908049

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 22:

73
# Symbol AA change Variation ID SNP ID
1 EPHB2 p.Arg745Cys VAR_082702

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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