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  3. VPS33A

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.

Table of contents:

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

SOURCES: OMIM ORPHANET


Potential gene panels for VPS33A gene

VPS33A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the VPS33A gene.

More info about this panel
United States.

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