CCND1 gene related symptoms and diseases
All the information presented here about the CCND1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CCND1 gene
Symptoms // Phenotype | % Cases |
---|---|
Neoplasm | Very Common - Between 80% and 100% cases |
Splenomegaly | Common - Between 50% and 80% cases |
Lymphadenopathy | Common - Between 50% and 80% cases |
Renal cell carcinoma | Uncommon - Between 30% and 50% cases |
Carcinoma | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CCND1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypercalcemia
- Anemia
- Weight loss
- Fatigue
- Neoplasm of the pancreas
- B-cell lymphoma
- Lymphoma
- Colon cancer
And 112 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CCND1 gene
Here you will find a list of rare diseases related to the CCND1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
VON HIPPEL-LINDAU SYNDROME; VHL
Description
Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10 ) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B.Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.
Most common symptoms of VON HIPPEL-LINDAU SYNDROME; VHL
- Hearing impairment
- Neoplasm
- Sensorineural hearing impairment
- Pain
- Hypertension
More info about VON HIPPEL-LINDAU SYNDROME; VHL
SOURCES: OMIM
B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA
Alternate names
B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll, small lymphocytic lymphoma, b-cell chronic lymphoid leukemia, leukemia, chronic lymphatic
Description
B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.
Most common symptoms of B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA
- Neoplasm
- Anemia
- Splenomegaly
- Recurrent infections
- Thrombocytopenia
More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA
MANTLE CELL LYMPHOMA
Alternate names
MANTLE CELL LYMPHOMA Is also known as mantle zone lymphoma, lcm, mcl
Description
Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.
Most common symptoms of MANTLE CELL LYMPHOMA
- Neoplasm
- Fever
- Fatigue
- Splenomegaly
- Weight loss
More info about MANTLE CELL LYMPHOMA
SOURCES: ORPHANET
MULTIPLE MYELOMA
Alternate names
MULTIPLE MYELOMA Is also known as plasma cell myeloma, myelomatosis, kahler's disease, medullary plasmacytoma
Description
Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).
Most common symptoms of MULTIPLE MYELOMA
- Neoplasm
- Anemia
- Fatigue
- Splenomegaly
- Weight loss
More info about MULTIPLE MYELOMA
COLORECTAL CANCER; CRC
Alternate names
COLORECTAL CANCER; CRC Is also known as colon cancer
Description
Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013).
Most common symptoms of COLORECTAL CANCER; CRC
- Neoplasm
- Carcinoma
- Oligodontia
- Colon cancer
- Colitis
More info about COLORECTAL CANCER; CRC
SOURCES: OMIM
Search interest in CCND1
Potential gene panels for CCND1 gene
BCL1/CCND1. Translocation t(11;14) analysis by PCR Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CCND1 gene.
More info about this panelt(11;14)(IGH/BCL1) rearrangement Panel
By CGC Genetics t(11;14)(IGH/BCL1) rearrangement that also includes the following genes: CCND1 IGHG1
More info about this panelDetection by FISH of t(11;14) IGH/CCND1 Panel
By CGC Genetics Detection by FISH of t(11;14) IGH/CCND1 that also includes the following genes: CCND1 IGH
More info about this panelCustom solid tumor gene sequencing panel Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A
More info about this panelVon Hippel-Lindau Disease Panel
By Bioscientia GmbH Center for Human Genetics Von Hippel-Lindau Disease that also includes the following genes: VHL CCND1
More info about this panelCancer 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 panelFISH, Lymphoma Panel Panel
By Cytogenetics and Molecular Pathology Laboratory UP Health System Marquette FISH, Lymphoma Panel that also includes the following genes: BCL6 CCND1 IGH MALT1 MYC
More info about this panelCCND1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CCND1 gene.
More info about this panelOnco microarray for CLL Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for CLL that also includes the following genes: BCL6 TP53 BCL11A CCND1 FGF2 AKT1 ALK IGH ITK MYB
More info about this panelHemato-oncology chromosomal microarray Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2
More info about this panelFocus::MCL™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MCL™ NGS Panel that also includes the following genes: SALL3 SI SMARCA4 BTK TLR2 TP53 TRAF2 NSD2 XPO1 KMT2C
More info about this panelFocus::Lymphoma™ NGS Panel Panel
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Lymphoma™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS
More info about this panelMantle cell lymphoma Panel
By Bioarray
This panel specifically test the CCND1 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 panelMelanoma Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Melanoma Gene Set that also includes the following genes: ROS1 BRAF TERT MED12 TP53 KMT2C CCND1 CDK4 CDKN2A CTNNB1
More info about this panelGynecologic Tumors Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Gynecologic Tumors Gene Set that also includes the following genes: FOXL2 BRAF BRCA1 BRCA2 SMO STK11 MED12 TP53 VHL CCND1
More info about this panelHead & Neck Tumors Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Head & Neck Tumors Gene Set that also includes the following genes: BRCA1 BRCA2 TGFBR2 TP53 KDM6A KMT2C NSD1 CCND1 FBXW7 CDKN2A
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 panelGuardant360 Panel
By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A
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 panelOmniSeq Comprehensive Panel
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panelSolid Tumor Targeted Mutation and Fusion Panel Panel
By Providence Regional Laboratories Providence Health and Services Solid Tumor Targeted Mutation and Fusion Panel that also includes the following genes: ROS1 BRAF SMO CCND1 CDK4 CDK6 CTNNB1 DDR2 EGFR ERBB2
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 panelPrimBio Colorectal Cancer Panel Panel
By PrimBio Research Institute PrimBio Research Institute PrimBio Colorectal Cancer Panel that also includes the following genes: BLM BMPR1A SCG5 BRAF BRCA1 STK11 BUB1B EPCAM TCF7L2 TGFBR2
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NPHP3-ACAD11 POP1 ACTA1 GDF1 TECPR2 CYB5R3 MYBPC1