Condition that has an autosomal dominant inheritance pattern is:
Schwachman diamond syndrome Autosomal recessive Biallelic mutation in SBDS gene. Bone marrow failure, Exocrine pancreatic insufficiency | risk of myelodysplasia and leukemia. Diamond blackfan anaemia Autosomal dominant condition Congenital abnormalities, Severe macrocytic anaemia, Reticulocytopenia Selective depletion of erythroid precursors in bone marrow. Dyskeratosis congenita Inherited bone marrow failure syndrome Triad- skin pigmentation, nail dystrophy and mucosal leukoplakia. X linked and autosomal condition. Bone marrow aplasia Pulmonary fibrosis Liver disease Neurologic and eye abnormalities Increased predisposition to cancer Congenital amegakaryocytic thrombocytopenia Autosomal recessive condition Mutation in thrombopoietin (TPO) receptor c-mpl. Aplastic anaemia by 5 yrs of age.
Schwachman diamond syndrome
Diamond blackfan anaemia
Dyskeratosis congenita
Congenital amegakaryocytic thrombocytopenia
Single Gene Disorders