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MIRAGE syndrome

MIRAGE is the acronym of myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy. The MIRAGE syndrome is an autosomal dominant disorder caused by SAMD9 mutations.

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
MIRAGE syndrome
SAMD9
Ovalocytosis
Paroxysmal nocturnal hemoglobinuria
Retinitis pigmentosa and erythrocytic microcytosis
Thromboembolic diseases
Vasculitis due to ADA2 deficiency

References:

1.

Narumi S et al. (2016) SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

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Update: Aug. 14, 2020
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