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.
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
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
Search interest in IYD
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 United States.
IYD Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the IYD gene.
More info about this panel United States.
IYD Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the IYD gene.
More info about this panel United States.
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 United States.
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 United States.
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 Netherlands.
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 United States.
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 United States.
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 Germany.
Single gene testing IYD Panel
Germany.
By CeGaT GmbH
This panel specifically test the IYD gene.
More info about this panel Germany.
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 Estonia.
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 Estonia.
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 Spain.
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 Spain.
IYD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IYD gene.
More info about this panel United States.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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