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THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (TRMA)

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (TRMA)
ROGERS SYNDROME
249270
OMIM = Online Mendelian Inheritance of Men
49827
Thiamine transporter 1
1q24.2
Q21.0
rare
autosomal recessive
mutation in the SLC19A2 gene
Laboratory findings    Hemoglobine dec (blood)
    Thrombocytes, Platelets dec (blood)
Symptoms    anemia
    ataxia
    blindness, visual loss, visual impairment
    cardiac arrhythmia, dysrhythmia
    cardiomyopathy
    congenital heart defect
    cryptorchism
    developmental delay
    diabetes mellitus
    epilepsy
    hearing defect, deafness
    megaloblastic anemia
    nystagmus
    onset, childhood
    onset, infancy
    optic atrophy
    optic neuropathy
    retinal or macular degeneration
    short stature
    thrombopenia, thrombocytopenia
    ventricular septal defect