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.
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).
Most common symptoms of FAMILIAL MULTINODULAR GOITER
- Neoplasm
- Pain
- Abdominal pain
- Carcinoma
- Amenorrhea
More info about FAMILIAL MULTINODULAR GOITER
Search interest in KEAP1
Potential gene panels for KEAP1 gene
Cancer Hotspot Panel Panel
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 panelKEAP1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KEAP1 gene.
More info about this panelSolid Tumor Gene Set Panel
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 panelThoracic Tumors Gene Set Panel
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 panelFoundationOne® Heme Panel
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 panelNeoTYPE® Discovery Profile for Solid Tumors Panel
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 panelCaris MI TumorSeek 592-Gene NGS Panel Panel
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 panelProvidence Personalized Medicine Panel - Solid Tumor Panel
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 panel152 Integrated Advantage NGS Solid Tumor Panel Panel
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 panelTempus xT assay Panel
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 panelTempus xO assay Panel
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 panelCEN4GEN Lung cancer: Extended gene sequencing Panel Panel
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
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