Inherited Thrombocytopenia
A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.
What a diagnosis changes
A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.
Genes analysed
Also known as
hereditary thrombocytopenia
Includes 57 related subtypes ↓Hide subtypes ↑
- ACTB-associated syndromic thrombocytopenia
- alpha granule disease
- amegakaryocytic thrombocytopenia, congenital, 2
- autosomal dominant macrothrombocytopenia
- beta-thalassemia-X-linked thrombocytopenia syndrome
- bleeding disorder, platelet-type, 21
- congenital amegakaryocytic thrombocytopenia
- congenital amegakaryocytic thrombocytopenia 1
- congenital autosomal recessive small-platelet thrombocytopenia
- congenital thrombotic thrombocytopenic purpura
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
- erythrokeratodermia variabilis et progressiva 4
- GATA1-related cytopenia
- GNE myopathy
- gray platelet syndrome
- isolated delta-storage pool disease
- Jacobsen syndrome
- macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- macrothrombocytopenia, isolated
- macrothrombocytopenia, isolated, 1, autosomal dominant
- macrothrombocytopenia, isolated, 2, autosomal dominant
- marcothrombocytopenia with mitral valve insufficiency
- MECOM-associated syndrome
- Medich giant platelet syndrome
- Paris-Trousseau thrombocytopenia
- platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
- platelet storage pool deficiency
- platelet-type bleeding disorder 15
- platelet-type bleeding disorder 17
- platelet-type bleeding disorder 20
- Quebec platelet disorder
- radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
- radioulnar synostosis with amegakaryocytic thrombocytopenia 1
- radioulnar synostosis with amegakaryocytic thrombocytopenia 2
- Stormorken syndrome
- syndromic constitutional thrombocytopenia
- Takenouchi-Kosaki syndrome
- thrombocytopenia 1
- thrombocytopenia 10
- thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
- thrombocytopenia 12 with or without myopathy
- thrombocytopenia 13, syndromic
- thrombocytopenia 2
- thrombocytopenia 3
- thrombocytopenia 4
- thrombocytopenia 5
- thrombocytopenia 6
- thrombocytopenia 7
- thrombocytopenia 9
- thrombocytopenia with congenital dyserythropoietic anemia
- thrombocytopenia-absent radius syndrome
- thrombocytopenia, anemia, and myelofibrosis
- thrombocytopenia, cyclic
- thrombocytopenia, X-linked, with or without dyserythropoietic anemia
- TPM4-related platelet disorder
- white platelet syndrome
- X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
