THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (TRMA)

Question 1

What is  THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (TRMA)?

Accepted Answer

rare
autosomal recessive
mutation in the SLC19A2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Roger-Syndrom; Thiamin-responsive megaloblastäre Anämie mit Diabetes mellitus und sensorineuraler Schwerhörigkeit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 249270

Question 4

Which enzymes are involved?

Accepted Answer

Thiamine transporter 1

Disease	THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (TRMA)
Synonym	ROGERS SYNDROME
OMIM	249270 OMIM = Online Mendelian Inheritance of Men
Orphanet	49827
Protein (UniProt)	Thiamine transporter 1
Gene locus	1q24.2
ICD	Q21.0
Summary	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