Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Inheritable platelet disorders

Inborn platelet disorders include diseases characterized by platelet dysfunction and morphology.

Systematic

Hereditary diseases of the hematopoetic system and coagulopathies
Aplastic anemia
Autoimmune lymphoproliferative syndrome 5
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Disorders of cobalamin metabolism
Familial erythrocytosis 2
Familial hemophagocytic lymphohistiocytosis
H syndrome
Hereditary bleeding disorders
Hereditary malign blood disorders
Inheritable platelet disorders
Alloimmune thrombocytopenia
ITGA2B
ITGB3
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
WDR1
Bernard-Soulier syndrome
GP1BA
GP1BB
GP9
Bleeding disorder platelet-type 9
ITGA2
Glycoprotein 1a deficiency
ITGA2
IVIC syndrome
SALL4
MYH9 related disorders
Epstein syndrome
MYH9
Fechtner syndrome
MYH9
MYH9
Sebastian syndrome
MYH9
Mediterranean macrothrombocytopenia
ABCG5
ABCG8
Thrombasthenia of Glanzmann and Naegeli
ITGA2B
ITGB3
Thrombocythemia 3
JAK2
Wiskott–Aldrich syndrome
WAS
Ovalocytosis
Paroxysmal nocturnal hemoglobinuria
Retinitis pigmentosa and erythrocytic microcytosis
Thromboembolic diseases
Vasculitis due to ADA2 deficiency
X-linked lymphoproliferative syndrome 2

References:

1.

None (2005) Qualitative disorders of platelets and megakaryocytes.

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2.

Nurden P et al. (2008) Congenital disorders associated with platelet dysfunctions.

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3.

OMIM.ORG article

Omim 273800 [^]
Update: May 9, 2019