BUB1B gene related symptoms and diseases

All the information presented here about the BUB1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BUB1B gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Premature chromatid separation Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Dandy-Walker malformation Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with BUB1B gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Clinodactyly
  • Carcinoma
  • High forehead
  • Small for gestational age
  • Wide nose
  • Myelodysplasia
  • Ambiguous genitalia
  • Ventriculomegaly

And 139 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BUB1B gene

Here you will find a list of rare diseases related to the BUB1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Alternate names

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Description

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

Most common symptoms of MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

SOURCES: ORPHANET OMIM

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Alternate names

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Description

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

Most common symptoms of MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

SOURCES: OMIM

PREMATURE CHROMATID SEPARATION TRAIT; PCS


Alternate names

PREMATURE CHROMATID SEPARATION TRAIT; PCS Is also known as total premature chromatid separation trait

Description

Premature chromatid separation consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the 'heterozygous PCS trait' and has no obvious phenotypic effect, although some have reported decreased fertility (Gabarron et al., 1986). Inheritance is autosomal codominant (Kajii and Ikeuchi, 2004).See also {158250} for a possible inherited predisposition to nondisjunction, which may be a related phenomenon.

Most common symptoms of PREMATURE CHROMATID SEPARATION TRAIT; PCS

  • Short stature
  • Neoplasm
  • Carcinoma
  • Infertility
  • Spontaneous abortion


More info about PREMATURE CHROMATID SEPARATION TRAIT; PCS

SOURCES: OMIM

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). Genetic Heterogeneity of Colorectal CancerMutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP ) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene (OMIM ), whereas HNPCC is caused by mutations in several genes, including MSH2 (OMIM ), MLH1 (OMIM ), PMS1 (OMIM ), PMS2 (OMIM ), MSH6 (OMIM ), TGFBR2 (OMIM ), and MLH3 (OMIM ). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis (OMIM ), which is caused by mutations in the MUTYH gene (OMIM ), and oligodontia-colorectal cancer syndrome (OMIM ), which is caused by mutations in the AXIN2 gene (OMIM ).The CHEK2 gene (OMIM ) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene (OMIM ) was identified in a patient with colorectal cancer.Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 (OMIM ) is conferred by mutation in the GALNT12 gene (OMIM ) on chromosome 9q22; CRCS2 (OMIM ) maps to chromosome 8q24; CRCS3 (OMIM ) is conferred by variation in the SMAD7 gene (OMIM ) on chromosome 18; CRCS4 (OMIM ) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (OMIM ); CRCS5 (OMIM ) maps to chromosome 10p14; CRCS6 (OMIM ) maps to chromosome 8q23; CRCS7 (OMIM ) maps to chromosome 11q23; CRCS8 (OMIM ) maps to chromosome 14q22; CRCS9 (OMIM ) maps to 16q22; CRCS10 (OMIM ) is conferred by mutation in the POLD1 gene (OMIM ) on chromosome 19q13; CRCS11 (OMIM ) maps to chromosome 20p12; and CRCS12 (OMIM ) is conferred by mutation in the POLE gene (OMIM ) on chromosome 12q24.Somatic mutations in many different genes, including KRAS (OMIM ), PIK3CA (OMIM ), BRAF (OMIM ), CTNNB1 (OMIM ), FGFR3 (OMIM ), AXIN2 (OMIM ), AKT1 (OMIM ), MCC (OMIM ), MYH11 (OMIM ), PARK2 (OMIM ), and RNF43 (OMIM ), have been identified in colorectal cancer.

Most common symptoms of COLORECTAL CANCER; CRC

  • Neoplasm
  • Carcinoma
  • Oligodontia
  • Colon cancer
  • Colitis


More info about COLORECTAL CANCER; CRC

SOURCES: OMIM


Potential gene panels for BUB1B gene

Colorectal Polyposis Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Colorectal Polyposis Panel that also includes the following genes: BMPR1A STK11 BUB1B GREM1 ENG APC SMAD4 MUTYH AXIN2 POLD1

More info about this panel

Comprehensive Hereditary Colorectal Cancer Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Hereditary Colorectal Cancer Panel that also includes the following genes: BMPR1A STK11 BUB1B EPCAM TP53 CDH1 GALNT12 GREM1 ENG APC

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

Portugal.

By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Mosaic Variegated Aneuploidy Syndrome via BUB1B Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the BUB1B gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Colorectal Cancer Panel

Germany.

By MGZ Medical Genetics Center Colorectal Cancer that also includes the following genes: BMPR1A STK11 BUB1B TP53 APC SMAD4 MET MLH1 MSH2 MSH6

More info about this panel

Ovarian Cancer Panel

Germany.

By MGZ Medical Genetics Center Ovarian Cancer that also includes the following genes: BRCA1 BRCA2 BUB1B TP53 DICER1 BRIP1 FANCL SLX4 FANCI PALB2

More info about this panel

Breast Cancer Panel

Germany.

By MGZ Medical Genetics Center Breast Cancer that also includes the following genes: BLM SDHB SDHC SDHD BRCA1 BRCA2 STK11 BUB1B TP53 CDH1

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Germany.

By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Germany.

By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT

More info about this panel

Hereditary Cancer Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11

More info about this panel

Hereditary Cancer Syndrome: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel

Colon Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Colon Cancer NGS Panel that also includes the following genes: BMPR1A STK11 BUB1B EPCAM TP53 CDH1 CDKN2A GALNT12 FLCN EXO1

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

Microcephaly NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1

More info about this panel

BUB1B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BUB1B gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Hereditary Pediatric Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Hereditary Pancreatic Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Pancreatic Cancer Panel that also includes the following genes: BMPR1A BRCA1 BRCA2 STK11 BUB1B EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

Hereditary Gastrointestinal Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Gastrointestinal Cancer Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

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

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

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

Renal Cancer: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Sequencing Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1

More info about this panel

Renal Cancer: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Deletion/Duplication Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Hereditary Cancer Syndrome: Gene Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11

More info about this panel

Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B

More info about this panel

PrimBio Colorectal Cancer Panel Panel

United States.

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 panel


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