PAX8 gene related symptoms and diseases
All the information presented here about the PAX8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PAX8 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Growth delay | Common - Between 50% and 80% cases |
| Muscular hypotonia | Common - Between 50% and 80% cases |
| Constipation | Common - Between 50% and 80% cases |
| Hypothyroidism | Common - Between 50% and 80% cases |
| Short stature | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with PAX8 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abdominal distention
- Macroglossia
- Global developmental delay
- Intellectual disability, severe
- Coarse facial features
- Abnormality of the face
- Large fontanelles
Not very common - Between 30% and 50% cases
- Muscle weakness
And 44 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PAX8 gene
Here you will find a list of rare diseases related to the PAX8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
THYROID HYPOPLASIA
Description
Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Most common symptoms of THYROID HYPOPLASIA
- Global developmental delay
- Short stature
- Growth delay
- Muscular hypotonia
- Fatigue
More info about THYROID HYPOPLASIA
SOURCES: ORPHANET
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2
Alternate names
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh, thyroid agenesis, thyrotropin resistance, resistance to thyrotropin, thyroid, ectopic, hypothyroidism, athyreotic, athyreotic hypothyroidism, hypothyroidism, congenital, due to thyroid dysgenesis, thyroid hypoplasia, thyroid dysgenesis
Description
In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).
Most common symptoms of HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2
- Intellectual disability
- Short stature
- Generalized hypotonia
- Growth delay
- Muscular hypotonia
More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2
SOURCES: OMIM
DIFFERENTIATED THYROID CARCINOMA
Alternate names
DIFFERENTIATED THYROID CARCINOMA Is also known as well-differentiated thyroid carcinoma, pact, tpc, nonmedullary thyroid carcinoma, papillary, papillary or follicular thyroid carcinoma, papillary carcinoma of thyroid, familial nonmedullary thyroid cancer, papillary, ptc
Description
Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.
Most common symptoms of DIFFERENTIATED THYROID CARCINOMA
- Neoplasm
- Pain
- Carcinoma
- Hoarse voice
- Goiter
More info about DIFFERENTIATED THYROID CARCINOMA
THYROID ECTOPIA
Description
Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Most common symptoms of THYROID ECTOPIA
- Global developmental delay
- Short stature
- Growth delay
- Muscle weakness
- Muscular hypotonia
More info about THYROID ECTOPIA
SOURCES: ORPHANET
ATHYREOSIS
Description
Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.
Most common symptoms of ATHYREOSIS
- Global developmental delay
- Short stature
- Growth delay
- Muscle weakness
- Muscular hypotonia
More info about ATHYREOSIS
SOURCES: ORPHANET
Search interest in PAX8
Potential gene panels for PAX8 gene
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.
Congenital Nongoitrous Hypothyroidism 2 Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the PAX8 gene.
More info about this panel United States.
PAX8 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the PAX8 gene.
More info about this panel Netherlands.
Congenital Hypothyroidism (Thyroid Dysgenesis) via PAX8 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PAX8 gene.
More info about this panel United States.
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.
Nephrology Endocrinology and Electrolytes - panels Panel
Germany.
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panel Germany.
Hypothyroidism congenital nongoitrous type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PAX8 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Single gene testing PAX8 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PAX8 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.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
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.
Congenital Hypothyroidism: PAX8 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PAX8 gene.
More info about this panel United States.
Congenital Hypothyroidism: PAX8 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PAX8 gene.
More info about this panel United States.
Congenital Hypothyroidism: PAX8 and FOXE1 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Hypothyroidism: PAX8 and FOXE1 Gene Sequencing that also includes the following genes: FOXE1 PAX8
More info about this panel United States.
Congenital Hypothyroidism: PAX8 and FOXE1 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Hypothyroidism: PAX8 and FOXE1 Gene Deletion/Duplication that also includes the following genes: FOXE1 PAX8
More info about this panel United States.
PAX8 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PAX8 gene.
More info about this panel United States.
Hypothyroidism and Resistance to Thyroid Hormone Panel Panel
Finland.
By Blueprint Genetics Hypothyroidism and Resistance to Thyroid Hormone Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 NKX2-5
More info about this panel Finland.
Baby Genes Targeted Panel Panel
United States.
By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel United States.
Congenital Hypothyroidism, Nongoitrous NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Congenital Hypothyroidism, Nongoitrous NGS and Deletion/Duplication Panel that also includes the following genes: THRA TSHB NKX2-5 PAX8
More info about this panel United States.
PAX8 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the PAX8 gene.
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
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.
THYROID HYPOPLASIA / ATHYREOSIS/ THYROID DYSGENESIS Panel
Spain.
By Laboratorio de Genetica Clinica SL THYROID HYPOPLASIA / ATHYREOSIS/ THYROID DYSGENESIS that also includes the following genes: NKX2-1 NKX2-5 FOXE1 PAX8
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.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panel Canada.
Congenital hypothyroidism: gene sequencing panel (RAPID testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Congenital hypothyroidism: gene sequencing panel (RAPID testing) that also includes the following genes: SLC5A5 TG THRA THRB TPO TSHB DUOX2 PAX8
More info about this panel Canada.
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel Canada.
Congenital hypothyroidism due to thyroid dysgenesis or hypoplasia: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PAX8 gene.
More info about this panel Canada.
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