BUB3 gene related symptoms and diseases

All the information presented here about the BUB3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to BUB3 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Depressed nasal ridge Very Common - Between 80% and 100% cases
Aortic regurgitation Very Common - Between 80% and 100% cases
Holoprosencephaly Very Common - Between 80% and 100% cases
Microretrognathia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BUB3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Osteolysis
  • Finger clinodactyly
  • Multicystic kidney dysplasia
  • Cafe-au-lait spot
  • Rhizomelia
  • Short palpebral fissure
  • Sleep apnea
  • Coarctation of aorta

And 79 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BUB3 gene

Here you will find a list of rare diseases related to the BUB3. 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


Potential gene panels for BUB3 gene

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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