Hyperthyroxinemia, Dystransthyretinemic; Dttrh

Description

Dystransthyretinemic hyperthyroxinemia is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals (summary by Moses et al., 1990).

Clinical Features

Phenotypes and symptoms related to Hyperthyroxinemia, Dystransthyretinemic; Dttrh

  • Euthyroid hyperthyroxinemia
  • Thyroid hormone receptor defect

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Hyperthyroxinemia, Dystransthyretinemic; Dttrh Is also known as hyperthyroxinemia, dysprealbuminemic, euthryroidal hyperthyroxinemia 2, dystransthyretinemic euthyroidal hyperthyroxinemia.

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.


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Hyperthyroxinemia, Dystransthyretinemic; Dttrh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TTR.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

TTR
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100 %
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Entrapment Neuropathy Evaluation.

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TTR, PMP22
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50 %
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100 %
Amyloidosis Evaluation (TTR).

By Athena Diagnostics Inc (United States).

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Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
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1 %
Genes
100 %
Dilated & Arrhythmogenic Cardiomyopathies Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR2, SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL, MYOZ2, PRDM16, ACTC1, CASQ2, LDB3, ACTN2, NEBL , (...)

View the complete list with 31 more genes
Specificity
2 %
Genes
100 %
Hypertrophic Cardiomyopathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, MYOZ2, ACTC1, ACTN2, CSRP3, NEXN, DSG2, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PKP2, PLN , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Hypertrophic cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

TNNC1, TNNI3, TNNT2, TPM1, TTR, MYOZ2, ACTC1, CAV3, ACTN2, CSRP3, NEXN, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2
Specificity
6 %
Genes
100 %
Hypertrophic cardiomyopathy - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

TNNC1, TNNI3, TNNT2, TPM1, TTR, MYOZ2, ACTC1, CAV3, ACTN2, CSRP3, NEXN, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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