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Summary
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (TRMA)
THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE) ROGERS SYNDROME
249270
OMIM = Online Medalian Inheritance of Men
49827
1q24.2
rare
autosomal recessive
mutation in the SLC19A2 gene
symptoms
anemia
ataxia
blindness, visual loss, visual impairment
cardiac arrhythmia, dysrhythmia
cardiomyopathy
congenital heart defect
cryptorchism
developmental delay
diabetes mellitus
epilepsy
hearing defect, deafness
nystagmus
onset, childhood
onset, infancy
optic atrophy
optic neuropathy
retinal or macular degeneration
short stature
thrombopenia, thrombocytopenia
ventricular septal defect
laboratory finding
Hemoglobine decreasedblood
Thrombocytes, Platelets decreasedblood
Literature
Xin B,Wang HMultiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order AmishClin Genet79186-912011
Atay FY,et al.Congenital Glucose-Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter GeneDig Dis Sci621280-2812017
Gordon NGuanidinoacetate methyltransferase deficiency (GAMT)Brain Dev32279-812010
Saadah OI,et al.Congenital glucose-galactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi ArabiaArab J Gastroenterol15121-232014