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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in BUB1B

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

BUB1B gene related symptoms and diseases

Top 5 symptoms and clinical features associated to BUB1B gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to BUB1B gene

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Alternate names

Description

Most common symptoms of MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Alternate names

Description

Most common symptoms of MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

PREMATURE CHROMATID SEPARATION TRAIT; PCS

Alternate names

Description

Most common symptoms of PREMATURE CHROMATID SEPARATION TRAIT; PCS

COLORECTAL CANCER; CRC

Alternate names

Description

Most common symptoms of COLORECTAL CANCER; CRC

Search interest in BUB1B

Potential gene panels for BUB1B gene

Colorectal Polyposis Panel Panel

Comprehensive Hereditary Colorectal Cancer Panel Panel

CHOP Comprehensive Hereditary Cancer Panel Panel

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

OncoRisk Plus (NGS panel for 89 genes) Panel

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

Mental retardation - different panels Panel

Hereditary Cancer Syndromes - panels Panel

Colorectal Cancer Panel

Ovarian Cancer Panel

Breast Cancer Panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

Hereditary Cancer Syndrome: Sequencing Panel Panel

Hereditary Cancer Syndrome: Deletion/Duplication Panel Panel

Colon Cancer NGS Panel Panel

Epilepsy NGS Panel Panel

Hereditary Cancer NGS Panel Panel

Intellectual Disability NGS Panel Panel

Microcephaly NGS Panel Panel

BUB1B Panel

Comprehensive Epilepsy NGS Panel Panel

Comprehensive Cancer Panel Panel

Hereditary Pediatric Cancer Panel Panel

Comprehensive Hereditary Cancer Panel Panel

Hereditary Pancreatic Cancer Panel Panel

Hereditary Gastrointestinal Cancer Panel Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

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

Tempus xT assay Panel

Tempus xO assay Panel

Renal Cancer: Gene Sequencing Panel Panel

Renal Cancer: Gene Deletion/Duplication Panel Panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Hereditary Cancer Syndrome: Gene Sequencing Panel Panel

Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel

PrimBio Colorectal Cancer Panel Panel