Thiamine-Responsive Megaloblastic Anemia Syndrome (TRMA)

Alias:

Rogers Syndrome

Trma

Thiamine-Responsive Myelodysplasia

Megaloblastic Anemia, Thiamine-Responsive, with Diabetes Mellitus and Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anemia with Diabetes Mellitus and Sensorineural Deafness

Thiamine Metabolism Dysfunction Syndrome 1

Thiamine-Responsive Anemia Syndrome

Thmd1

Thiamine-Responsive Megaloblastic Anemia with Diabetes Mellitus and Sensorineural Hearing Loss

Thiamine Responsive Megaloblastic Anemia Syndrome

Thiamine-Responsive Megaloblastic Anemia

Thiamine-Responsive Megaloblastic Anaemia with Diabetes Mellitus and Sensorineural Deafness

Megaloblastic Anemia Thiamine-Responsive with Diabetes Mellitus and Sensorineural Deafness

Thiamine-Responsive Megaloblastic Anaemia Syndrome

Thiamine-Responsive Anaemia Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Thiamine-Responsive Megaloblastic Anemia Syndrome, also known as rogers syndrome, is related to thiamine metabolism dysfunction syndrome 2 and megaloblastic anemia. An important gene associated with Thiamine-Responsive Megaloblastic Anemia Syndrome is SLC19A2 (Solute Carrier Family 19 Member 2), and among its related pathways/superpathways is Thiamine metabolic pathways. Affiliated tissues include heart and brain, and related phenotypes are diabetes mellitus and sensorineural hearing impairment

Related ID：

MALACARDS：THM002

OMIM：249270

MESH：C536510