FOXE1 gene related symptoms and diseases

All the information presented here about the FOXE1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FOXE1 gene

Symptoms // Phenotype % Cases
Papillary thyroid carcinoma Common - Between 50% and 80% cases
Goiter Common - Between 50% and 80% cases
Thyroid carcinoma Uncommon - Between 30% and 50% cases
Non-medullary thyroid carcinoma Uncommon - Between 30% and 50% cases
Colon cancer Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with FOXE1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Follicular thyroid carcinoma
  • Carcinoma
  • Pain
  • Neoplasm
  • Thyroid agenesis
  • Multinodular goiter
  • Hypothyroidism
  • Rarely - Less than 30% cases

  • Short stature

And 44 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FOXE1 gene

Here you will find a list of rare diseases related to the FOXE1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BAMFORTH-LAZARUS SYNDROME


Alternate names

BAMFORTH-LAZARUS SYNDROME Is also known as bamforth syndrome, athyroidal hypothyroidism-spiky hair-cleft palate syndrome, bamforth-lazarus syndrome, hypothyroidism-cleft palate syndrome

Description

Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.

Most common symptoms of BAMFORTH-LAZARUS SYNDROME

  • Intellectual disability
  • Cleft palate
  • Hypothyroidism
  • Polyhydramnios
  • Retrognathia


More info about BAMFORTH-LAZARUS SYNDROME

SOURCES: ORPHANET MESH 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

SOURCES: ORPHANET OMIM

THYROID CANCER, NONMEDULLARY, 4; NMTC4


Description

Nonmedullary thyroid cancer (NMTC) refers to neoplasms originating from the thyroid follicular cells and represents 80 to 95% of all thyroid cancers. Approximately 5% of NMTC occurs on the background of a familial predisposition. Although papillary thyroid carcinoma (PTC) is usually the most frequent thyroid lesion in NMTC families, multinodular goiter (MNG) and follicular thyroid adenoma also occur (summary by Pereira et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (OMIM ).

Most common symptoms of THYROID CANCER, NONMEDULLARY, 4; NMTC4

  • Neoplasm
  • Carcinoma
  • Lymphoma
  • Goiter
  • Basal cell carcinoma


More info about THYROID CANCER, NONMEDULLARY, 4; NMTC4

SOURCES: OMIM

FAMILIAL PAPILLARY OR FOLLICULAR THYROID CARCINOMA


Alternate names

FAMILIAL PAPILLARY OR FOLLICULAR THYROID CARCINOMA Is also known as fnmtc, familial pure nonmedullary thyroid carcinoma

Description

Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.

Most common symptoms of FAMILIAL PAPILLARY OR FOLLICULAR THYROID CARCINOMA

  • Pain
  • Recurrent fractures
  • Bone pain
  • Goiter
  • Colon cancer


More info about FAMILIAL PAPILLARY OR FOLLICULAR THYROID CARCINOMA

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


Potential gene panels for FOXE1 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

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

FOXE1 mutation analysis Panel

Netherlands.

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

This panel specifically test the FOXE1 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

Bamforth-Lazarus Syndrome via FOXE1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FOXE1 gene.

More info about this panel

Cleft lip, cleft palate and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders NGS panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2

More info about this panel

Cleft lip, cleft palate and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders Deletion / Duplication panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2

More info about this panel

Cleft lip, cleft palate and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders Comprehensive panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2

More info about this panel

Single gene testing FOXE1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the FOXE1 gene.

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

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

Bamforth Lazarus Syndrome: FOXE1 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FOXE1 gene.

More info about this panel

Bamforth Lazarus Syndrome: FOXE1 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FOXE1 gene.

More info about this panel

Congenital Hypothyroidism: FOXE1 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FOXE1 gene.

More info about this panel

Congenital Hypothyroidism: FOXE1 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the FOXE1 gene.

More info about this panel

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

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

FOXE1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FOXE1 gene.

More info about this panel

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

Cleft Lip/Palate and Associated Syndromes Panel Panel

Finland.

By Blueprint Genetics Cleft Lip/Palate and Associated Syndromes Panel that also includes the following genes: TBX22 KDM6A TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3

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

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

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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