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
Experts
1. | Aronheim, Ami:
2 articles
(11/2003 - 08/2002)
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2. | Assaraf, Yehuda G:
2 articles
(11/2003 - 08/2002)
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3. | Baron, Dana:
2 articles
(11/2003 - 08/2002)
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4. | Sui, Ruifang:
1 article
(01/2022)
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5. | Sun, Zixi:
1 article
(01/2022)
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6. | Wu, Shijing:
1 article
(01/2022)
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7. | Yao, Fengxia:
1 article
(01/2022)
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8. | Yuan, Zhisheng:
1 article
(01/2022)
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9. | Baide-Mairena, Heidy:
1 article
(01/2019)
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10. | Castioni, J:
1 article
(01/2019)
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Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Thiamine responsive megaloblastic anemia syndrome:
1. | Thiamine (Aneurin)FDA Link
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2. | Proteins (Proteins, Gene)FDA Link
06/01/2014
- " Thiamine responsive megaloblastic anemia syndrome (TRMA), an autosomal recessive disorder is caused by mutations in the SLC19A2 gene which encodes for thiamine transporter 1 (THTR1) protein. " 05/01/2009
- " Mutations in the SLC19A2 gene, encoding a high-affinity thiamine transporter protein, THTR-1, are responsible for the clinical features associated with thiamine-responsive megaloblastic anemia syndrome in which treatment with pharmacological doses of thiamine correct the megaloblastic anemia and diabetes mellitus. " 07/01/2012
- " Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein. " 01/01/2012
- " The thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss due to mutations in SLC 19A2 that encodes a thiamine transporter protein. " 04/01/2008
- " Thiamine responsive megaloblastic anemia syndrome (TRMA), an autosomal recessive disorder caused by the deficiency of thiamine transporter protein, is the association of diabetes mellitus, anemia and deafness. "
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3. | Reduced Folate Carrier ProteinIBA
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4. | Familial apoceruloplasmin deficiencyIBA
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Therapies and Procedures