Thiamine-responsive Megaloblastic Anemia Syndrome

Description

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

Clinical Features

Top most frequent phenotypes and symptoms related to Thiamine-responsive Megaloblastic Anemia Syndrome

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cryptorchidism
  • Anemia

And another 46 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Thiamine-responsive Megaloblastic Anemia Syndrome Is also known as thmd1, trma, thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness, rogers syndrome, thiamine-responsive myelodysplasia, thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Thiamine-responsive Megaloblastic Anemia Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
Thiamine-Responsive Megaloblastic Anemia Syndrome.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

SLC19A2
Specificity
100 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
SLC19A2 sequencing.

By Genetic Services Laboratory University of Chicago (United States).

SLC19A2
Specificity
100 %
Genes
100 %
SLC19A2 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago (United States).

SLC19A2
Specificity
100 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
SLC19A2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SLC19A2
Specificity
100 %
Genes
100 %
Thiamine-responsive megaloblastic anemia syndrome (sequence analysis of SLC19A2 gene).

By CGC Genetics (Portugal).

SLC19A2
Specificity
100 %
Genes
100 %

You can get up to 34 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Search Engine

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