Isolated Thyrotropin-releasing Hormone Deficiency

Clinical Features

Top most frequent phenotypes and symptoms related to Isolated Thyrotropin-releasing Hormone Deficiency

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Delayed skeletal maturation
  • Constipation
  • Hypothyroidism
  • Dry skin
  • Amenorrhea
  • Hoarse voice
  • Secondary amenorrhea

And another 1 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

Isolated Thyrotropin-releasing Hormone Deficiency Is also known as hypothalamic hypothyroidism, isolated prothyroliberin deficiency, isolated protirelin deficiency, isolated trf deficiency, isolated tsh-releasing factor deficiency, trh deficiency, isolated thyroliberin deficiency, isolated thyrotropin-releasing factor deficienc.

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.

Isolated Thyrotropin-releasing Hormone Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TRH mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

TRH
Specificity
100 %
Genes
100 %
Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TRH, TSHB, DUOX2, UBR1, IYD, NKX2-5, GLIS3, SECISBP2, DUOXA2, FOXE1, GNAS, HESX1, IGSF1 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Congenital Hypothyroidism (Thyrotropin-Releasing Hormone Deficiency) via TRH Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TRH
Specificity
100 %
Genes
100 %
TRH.

By Fulgent Genetics Fulgent Genetics (United States).

TRH
Specificity
100 %
Genes
100 %

You can get up to -4 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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