Preferred Label : Thiamine-responsive megaloblastic anemia syndrome;
Symbol : TRMA;
CISMeF acronym : THMD1; TRMA;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Rogers syndrome; Thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus,
and deafness type); THMD1; Thiamine-responsive myelodysplasia; Thiamine-responsive anemia syndrome; Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural
deafness;
Description : Thiamine-responsive megaloblastic anemia syndrome comprises megaloblastic anemia,
diabetes mellitus, and sensorineural deafness. Onset is typically between infancy
and adolescence, but all of the cardinal findings are often not present initially.
The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other
more variable features include optic atrophy, congenital heart defects, short stature,
and stroke (summary by Bergmann et al., 2009). - Genetic Heterogeneity of Disorders
Due to Thiamine Metabolism Dysfunction See also episodic encephalopathies due to defects
in thiamine metabolism: biotin-responsive basal ganglia disease (THMD2; 607483), caused
by mutation in the SLC19A3 gene (606152) on chromosome 2q; Amish lethal microcephaly
(THMD3; 607196) and bilateral striatal necrosis and progressive polyneuropathy (THMD4;
613710), both caused by mutation in the SLC25A19 gene (606521) on chromosome 17q25;
and THMD5 (614458), caused by mutation in the TPK1 gene (606370) on chromosome 7q34.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the solute carrier family 19 (thiamine transporter), member
2 gene (SLC19A2, 603941.0001);
Laboratory abnormalities : Serum thiamine is normal;
Prefixed ID : #249270;
Origin ID : 249270;
UMLS CUI : C0342287;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
