CDKN1A gene related symptoms and diseases

All the information presented here about the CDKN1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CDKN1A gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Thymoma Very Common - Between 80% and 100% cases
Neuroendocrine neoplasm Very Common - Between 80% and 100% cases
Extrahepatic cholestasis Very Common - Between 80% and 100% cases
Epigastric pain Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CDKN1A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Subcutaneous lipoma
  • Adenoma sebaceum
  • Pituitary prolactin cell adenoma
  • Adrenocortical adenoma
  • Adrenocortical carcinoma
  • Parathyroid hyperplasia
  • Schwannoma
  • Carcinoid tumor

And 61 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CDKN1A gene

Here you will find a list of rare diseases related to the CDKN1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MULTIPLE ENDOCRINE NEOPLASIA TYPE 1


Alternate names

MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 Is also known as men1, wermer syndrome, endocrine adenomatosis, multiple, mea i, men i

Description

Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.

Most common symptoms of MULTIPLE ENDOCRINE NEOPLASIA TYPE 1

  • Seizures
  • Neoplasm
  • Pain
  • Vomiting
  • Diarrhea


More info about MULTIPLE ENDOCRINE NEOPLASIA TYPE 1

SOURCES: OMIM ORPHANET


Potential gene panels for CDKN1A gene

CDKN1A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CDKN1A gene.

More info about this panel

Hyperparathyroidism Panel Panel

Finland.

By Blueprint Genetics Hyperparathyroidism Panel that also includes the following genes: CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C AIRE GCM2 GNA11 AP2S1

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

Genitourinary Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Genitourinary Tumors Gene Set that also includes the following genes: RXRA BRAF BRCA1 BRCA2 KDM5C STAG2 TERT MED12 TP53 TSC1

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

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


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