Bleeding diathesis due to glycoprotein VI deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: GP VI DEFICIENCY
GLYCOPROTEIN VI DEFICIENCY
BDPLT11
Number of Symptoms 13
OrphanetNr: 98885
OMIM Id: 614201
ICD-10: D69.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Bleeding diathesis due to a collagen receptor defect
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000132) Menorrhagia 40 / 7739
2
 (HPO:0000421) Epistaxis 85 / 7739
3
 (HPO:0000978) Bruising susceptibility 123 / 7739
4
 (HPO:0003010) Prolonged bleeding time 88 / 7739
5
 (OMIM) Defective platelet activation and aggregation in response to collagen 1 / 7739
6
 (OMIM) Defective platelet binding to collagen 1 / 7739
7
 (HPO:0003828) Variable expressivity 130 / 7739
8
 (MedDRA:10060221) Platelet morphology normal 3 / 7739
9
 (OMIM) Postsurgical bleeding 1 / 7739
10
 (OMIM) Decreased platelet expression of GP6 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (HPO:0003593) Infantile onset 249 / 7739
13
 (OMIM) Bleeding, mild 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009).
Clinical Description OMIM Dumont et al. (2009) reported a 10-year-old girl with a history of easy bruising since infancy. Laboratory studies showed a prolonged bleeding time and failure of platelet activation and aggregation in response to collagen. Platelet response to ADP, ...
Molecular genetics OMIM In a 10-year-old girl with mild platelet-type bleeding disorder-11, Dumont et al. (2009) identified compound heterozygosity for 2 mutations in the GP6 gene (605546.0001-605546.0002). Hermans et al. (2009) identified compound heterozygous GP6 mutations (605546.0003-605546.0004) in a woman with ...