IYD gene related symptoms and diseases

All the information presented here about the IYD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IYD gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Hypothyroidism Very Common - Between 80% and 100% cases
Goiter Very Common - Between 80% and 100% cases
Congenital hypothyroidism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IYD gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Global developmental delay
  • Not very common - Between 30% and 50% cases

  • Dry skin
  • Ectopic thyroid
  • Hypersomnia
  • Oligodontia
  • Large fontanelles
  • Abnormality of the face
  • Macroglossia

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to IYD gene

Here you will find a list of rare diseases related to the IYD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


THYROID DYSHORMONOGENESIS 4; TDH4


Alternate names

THYROID DYSHORMONOGENESIS 4; TDH4 Is also known as hypothyroidism, congenital, due to dyshormonogenesis, 4, thyroid hormonogenesis, genetic defect in, 4, iodotyrosine dehalogenase deficiency, deiodinase deficiency

Description

Presumed loss-of-function mutation(s) in the IYD gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase.

Most common symptoms of THYROID DYSHORMONOGENESIS 4; TDH4

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypothyroidism
  • Goiter


More info about THYROID DYSHORMONOGENESIS 4; TDH4

SOURCES: OMIM MESH

FAMILIAL THYROID DYSHORMONOGENESIS


Alternate names

FAMILIAL THYROID DYSHORMONOGENESIS Is also known as iodine accumulation, transport, or trapping defect, thyroid hormonogenesis, genetic defect in, 1, thyroid dyshormonogenesis, hypothyroidism, congenital, due to dyshormonogenesis, 1

Description

Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.

Most common symptoms of FAMILIAL THYROID DYSHORMONOGENESIS

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


More info about FAMILIAL THYROID DYSHORMONOGENESIS

SOURCES: ORPHANET OMIM


Potential gene panels for IYD gene

IYD Familial Mutation/Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the IYD gene.

More info about this panel

IYD Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the IYD gene.

More info about this panel

IYD Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the IYD gene.

More info about this panel

Congenital Hypothyroidism Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Hypothyroidism Deletion/Duplication Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB KDM6A DUOX2

More info about this panel

Congenital Hypothyroidism Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Hypothyroidism Sequencing Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB KDM6A DUOX2

More info about this panel

IYD mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the IYD gene.

More info about this panel

Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TRH TSHB DUOX2

More info about this panel

Congenital Hypothyroidism (Thyroid Dyshormonogenesis) via IYD/DEHAL1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the IYD gene.

More info about this panel

Thyroid dyshormonogenesis type 4 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IYD gene.

More info about this panel

Single gene testing IYD Panel

Germany.

By CeGaT GmbH

This panel specifically test the IYD gene.

More info about this panel

Hypothyroidism and Thyroid Hormone Resistance Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hypothyroidism and Thyroid Hormone Resistance that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD

More info about this panel

Thyroid Dyshormonogenesis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Thyroid Dyshormonogenesis that also includes the following genes: SLC5A5 TG TPO DUOX2 IYD DUOXA2

More info about this panel

CONGENITAL HYPOTHYROIDISM Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CONGENITAL HYPOTHYROIDISM that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD

More info about this panel

Thyroid dyshormonogenesis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Thyroid dyshormonogenesis that also includes the following genes: SLC16A2 SLC5A5 TG THRB DUOX2 IYD SECISBP2 DUOXA2 SLC26A4

More info about this panel

IYD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IYD gene.

More info about this panel

CONGENITAL HYPOTHYROIDISM Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HYPOTHYROIDISM that also includes the following genes: SLC5A5 TG THRA TPO TSHB DUOX2 IYD DUOXA2

More info about this panel

CONGENITAL HYPOTHYROIDISM – NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HYPOTHYROIDISM – NGS PANEL that also includes the following genes: SLC5A5 TG THRA NKX2-1 TPO TSHB DUOX2 IYD NKX2-5 DUOXA2

More info about this panel

Familial Thyroid Dyshormogenesis Type 4 , Sequencing IYD Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the IYD gene.

More info about this panel

Familial Thyroid Dyshormogenesis , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Thyroid Dyshormogenesis , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: SLC16A2 SLC5A5 TG THRB DUOX2 IYD SECISBP2 DUOXA2 SLC26A4

More info about this panel

Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB IYD NKX2-5

More info about this panel


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