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Thiamine responsive megaloblastic anemia syndrome

A hereditary autosomal recessive disorder characterized by 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. Mutations in the SLC19A2 gene have been identified. OMIM: 249270
Also Known As:
Abboud syndrome; Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness; Rogers syndrome; Thiamine responsive myelodysplasia; Thiamine-Responsive Anemia Syndrome; Thiamine-Responsive Megaloblastic Anemia Syndrome; Thiamine-Responsive Myelodysplasia
Networked: 28 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Anemia
2. Diabetes Mellitus
3. Deafness (Deaf Mutism)
4. Megaloblastic Anemia
5. Thiamine responsive megaloblastic anemia syndrome

Experts

1. Aronheim, Ami: 2 articles (11/2003 - 08/2002)
2. Assaraf, Yehuda G: 2 articles (11/2003 - 08/2002)
3. Baron, Dana: 2 articles (11/2003 - 08/2002)
4. Sui, Ruifang: 1 article (01/2022)
5. Sun, Zixi: 1 article (01/2022)
6. Wu, Shijing: 1 article (01/2022)
7. Yao, Fengxia: 1 article (01/2022)
8. Yuan, Zhisheng: 1 article (01/2022)
9. Baide-Mairena, Heidy: 1 article (01/2019)
10. Castioni, J: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Thiamine responsive megaloblastic anemia syndrome:
1. Thiamine (Aneurin)FDA Link
2. Proteins (Proteins, Gene)FDA Link
3. Reduced Folate Carrier ProteinIBA
4. Familial apoceruloplasmin deficiencyIBA

Therapies and Procedures

1. Cochlear Implants (Cochlear Implant)