Gray platelet syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BDPLT4
BLEEDING DISORDER, PLATELET-TYPE, 4
GPS
Alpha storage pool deficiency
platelet alpha-granule deficiency
Number of Symptoms 37
OrphanetNr: 721
OMIM Id: 139090
ICD-10: D69.1
UMLs: C0272302
MeSH: D055652
MedDRA:
Snomed: 51720005

Prevalence, inheritance and age of onset:

Prevalence: 60 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Alpha granule disease
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000132) Menorrhagia 40 / 7739
2
 (HPO:0000858) Menstrual irregularities Frequent [Orphanet] 42 / 7739
3
 (HPO:0000014) Abnormality of the bladder Frequent [Orphanet] 3 / 7739
4
 (HPO:0000421) Epistaxis Frequent [Orphanet] 85 / 7739
5
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
6
 (HPO:0000978) Bruising susceptibility Very frequent [Orphanet] 123 / 7739
7
 (HPO:0008330) Reduced von Willebrand factor activity 2 / 7739
8
 (HPO:0003010) Prolonged bleeding time Very frequent [Orphanet] 88 / 7739
9
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
10
 (HPO:0001892) Abnormal bleeding 85 / 7739
11
 (HPO:0012147) Reduced quantity of Von Willebrand factor 1 / 7739
12
 (HPO:0001872) Abnormality of thrombocytes Very frequent [Orphanet] 20 / 7739
13
 (HPO:0011974) Myelofibrosis 6 / 7739
14
 (HPO:0002863) Myelodysplasia Frequent [Orphanet] 30 / 7739
15
 (HPO:0011872) Impaired thrombin-induced platelet aggregation 2 / 7739
16
 (HPO:0008320) Impaired collagen-induced platelet aggregation 4 / 7739
17
 (OMIM) Median mean platelet volume 13fl 1 / 7739
18
 (OMIM) Reduced platelet aggregation response to collagen and thrombin 1 / 7739
19
 (OMIM) Gray polymorphonuclear neutrophils 1 / 7739
20
 (OMIM) Decreased platelet derived growth factor 1 / 7739
21
 (OMIM) Increased serum vitamin B12 1 / 7739
22
 (OMIM) Normal platelet aggregation response to arachidonic acid (AA) 1 / 7739
23
 (HPO:0100613) Death in early adulthood Occasional [Orphanet] 10 / 7739
24
 (OMIM) Decreased beta-thromboglobulin 1 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
 (OMIM) Decreased fibrinogen 2 / 7739
27
 (OMIM) Bone marrow aspirate shows normal cellularity and reticular fibrosis 1 / 7739
28
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
29
 (HPO:0003676) Progressive disorder 148 / 7739
30
 (OMIM) Decreased thrombospondin 1 / 7739
31
 (MedDRA:10060220) Platelet factor 4 decreased 1 / 7739
32
 (OMIM) Low-to-normal platelet count 1 / 7739
33
 (OMIM) Gray-to-gray-blue platelet on Wright-Giemsa stain 1 / 7739
34
 (OMIM) Platelets have decreased number of alpha-granules, large vacuoles, normal number of dense bodies on electron microscopy 1 / 7739
35
 (MedDRA:10064167) Fibronectin decreased 1 / 7739
36
 (OMIM) Large agranular platelets 1 / 7739
37
 (OMIM) Mild to moderate bleeding tendencies 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are ...
Clinical Description OMIM Raccuglia (1971) provided the first report of gray platelet syndrome, which they described as a qualitative defect in platelets (Gerrard et al., 1980). The boy had petechiae and ecchymoses as a newborn, and a bruising tendency throughout childhood. ...
Molecular genetics OMIM Simultaneously and independently, Gunay-Aygun et al. (2011), Albers et al. (2011), and Kahr et al. (2011) identified biallelic mutations in the NBEAL2 gene in patients with gray platelet syndrome. Using exome sequencing of the 3p21 locus, Gunay-Aygun et ...