Glanzmann thrombasthenia

General Information (adopted from Orphanet):

Synonyms, Signs: BDPLT2
BLEEDING DISORDER, PLATELET-TYPE, 2
THROMBASTHENIA OF GLANZMANN AND NAEGELI
PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF
GT
GP IIb-IIIa COMPLEX, DEFICIENCY OF
PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY
GLYCOPROTEIN COMPLEX IIb-IIIa, DEFICIENCY OF
Number of Symptoms 13
OrphanetNr: 849
OMIM Id: 273800
ICD-10: D69.1
UMLs:
MeSH:
MedDRA:
Snomed: 32942005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hemorrhagic disorder due to a constitutional thrombocytopenia
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000132) Menorrhagia 40 / 7739
2
(HPO:0000225) Gingival bleeding 28 / 7739
3
(HPO:0000421) Epistaxis 85 / 7739
4
(HPO:0002239) Gastrointestinal hemorrhage 97 / 7739
5
(HPO:0000979) Purpura 27 / 7739
6
(HPO:0000978) Bruising susceptibility 123 / 7739
7
(HPO:0002170) Intracranial hemorrhage 40 / 7739
8
(HPO:0001975) Decreased platelet glycoprotein IIb-IIIa 2 / 7739
9
(HPO:0003540) Impaired platelet aggregation 17 / 7739
10
(HPO:0003010) Prolonged bleeding time 88 / 7739
11
(MedDRA:10035530) Platelet count normal 9 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Deficiency of glycoprotein (GP)IIb-IIIa complex 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa platelet surface fibrinogen receptor complex ...
Diagnosis OMIM Seligsohn et al. (1985) demonstrated that in the form of Glanzmann thrombasthenia frequent in Iraqi Jews, prenatal diagnosis is possible by means of a monoclonal antibody against GPIIb/IIIa applied to fetal blood obtained by fetoscopic venipuncture. The method ...
Clinical Description OMIM Glanzmann thrombasthenia has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express ...
Molecular genetics OMIM Newman et al. (1991) demonstrated that the form of Glanzmann thrombasthenia frequent in Iraqi Jews is due to a truncated GPIIIa as a result of an 11-bp deletion within the GP3A gene (173470.0014), whereas the form of the ...
Population genetics OMIM A splice site mutation in the ITGA2B gene (607759.0008) has been identified exclusively in patients with Glanzmann thrombasthenia from the French Gypsy Manouche community. By genotyping and haplotype analysis of 23 individuals, including 9 patients with Glanzmann thrombasthenia, ...