Trombocitopenia hereditaria
Grupo de enfermedades que provocan un recuento bajo de plaquetas de por vida, asociadas a genes como MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 y MECOM, y que se heredan con patrones dominantes, recesivos o ligados al cromosoma X.
Qué cambia un diagnóstico
Un diagnóstico genético evita el diagnóstico erróneo de trombocitopenia inmune, con el consiguiente uso innecesario de corticoides o extirpación del bazo, y orienta el seguimiento de los problemas relacionados en los riñones, el oído o la sangre.
Genes analizados
También conocida como
hereditary thrombocytopenia
Incluye 57 subtipos relacionados ↓Ocultar subtipos ↑
- 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
