KEAP1 gene related symptoms and diseases

All the information presented here about the KEAP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KEAP1 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Multinodular goiter Very Common - Between 80% and 100% cases
Euthyroid multinodular goiter Very Common - Between 80% and 100% cases
Pilomatrixoma Very Common - Between 80% and 100% cases
Cerebellar medulloblastoma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KEAP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Testicular seminoma
  • Alveolar rhabdomyosarcoma
  • Pleuropulmonary blastoma
  • Medulloepithelioma
  • Euthyroid goiter
  • Colorectal polyposis
  • Papillary thyroid carcinoma
  • Rhabdomyosarcoma

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

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Rare diseases associated to KEAP1 gene

Here you will find a list of rare diseases related to the KEAP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL MULTINODULAR GOITER


Alternate names

FAMILIAL MULTINODULAR GOITER Is also known as multinodular goiter, adolescent, fmng, euthyroid goiter, simple goiter, goiter, nontoxic, with intrathyroidal calcification, familial mng

Description

Multinodular goiter (MNG) is a common disorder characterized by nodular enlargement of the thyroid gland. In MNG1, some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary (summary by Rio Frio et al., 2011). Genetic Heterogeneity of Multinodular GoiterOther MNG loci map to chromosome Xp22 (MNG2 ) and chromosome 3q26 (MNG3 ).

Most common symptoms of FAMILIAL MULTINODULAR GOITER

  • Neoplasm
  • Pain
  • Abdominal pain
  • Carcinoma
  • Amenorrhea


More info about FAMILIAL MULTINODULAR GOITER

SOURCES: OMIM ORPHANET


Potential gene panels for KEAP1 gene

Cancer Hotspot Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A

More info about this panel

KEAP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KEAP1 gene.

More info about this panel

Solid Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C

More info about this panel

Thoracic Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Thoracic Tumors Gene Set that also includes the following genes: RIT1 ROS1 BRAF SMARCA4 STK11 MED12 TP53 TSC1 TSC2 KMT2C

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel

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

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel

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

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

CEN4GEN Lung cancer: Extended gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Lung cancer: Extended gene sequencing Panel that also includes the following genes: ROS1 BRAF SMARCA4 SOX2 STK11 TP53 RUNX1T1 MUC16 FBXW7 CDKN2A

More info about this panel


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