VPS33A gene related symptoms and diseases
All the information presented here about the VPS33A 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 VPS33A gene
Symptoms // Phenotype | % Cases |
---|---|
Global developmental delay | Very Common - Between 80% and 100% cases |
Joint contracture of the hand | Very Common - Between 80% and 100% cases |
Abnormality of the foot | Very Common - Between 80% and 100% cases |
Hirsutism | Very Common - Between 80% and 100% cases |
Wide nose | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with VPS33A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Thick vermilion border
- Hepatic steatosis
- Macroglossia
- Brain atrophy
- Delayed myelination
- Cerebral calcification
- Abnormal lung morphology
- Long eyelashes
And 48 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to VPS33A gene
Here you will find a list of rare diseases related to the VPS33A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS
Alternate names
MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease
Description
MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).
Most common symptoms of MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS
- Global developmental delay
- Abnormal facial shape
- Spasticity
- Anemia
- Flexion contracture
More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS
Search interest in VPS33A
Potential gene panels for VPS33A gene
VPS33A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the VPS33A gene.
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 B3GAT3 MYLK DOCK8 ETV6 KDR TCF15 MYOM1