VPS53 gene related symptoms and diseases

All the information presented here about the VPS53 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to VPS53 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Neonatal hypotonia Uncommon - Between 30% and 50% cases
Progressive spastic quadriplegia Uncommon - Between 30% and 50% cases
Opisthotonus Uncommon - Between 30% and 50% cases
Intellectual disability, progressive Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with VPS53 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Progressive microcephaly
  • Intellectual disability, profound
  • Spastic tetraplegia
  • Generalized myoclonic seizures
  • Tetraplegia
  • Irritability
  • Osteoporosis
  • Seizures

And 11 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to VPS53 gene

Here you will find a list of rare diseases related to the VPS53. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E


Description

Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy (summary by Feinstein et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Most common symptoms of PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E

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


More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E

SOURCES: OMIM

PROGRESSIVE CEREBELLO-CEREBRAL ATROPHY


Alternate names

PROGRESSIVE CEREBELLO-CEREBRAL ATROPHY Is also known as pcca


More info about PROGRESSIVE CEREBELLO-CEREBRAL ATROPHY

SOURCES: ORPHANET


Potential gene panels for VPS53 gene

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

Pontocerebellar Hypoplasia via VPS53 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the VPS53 gene.

More info about this panel

Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Pontocerebellar Hypoplasia Sequencing Panel with CNV Detection that also includes the following genes: VRK1 TSEN34 TSEN15 CLP1 EXOSC3 RARS2 VPS53 TSEN54 TSEN2 SEPSECS

More info about this panel

Pontocerebellar hypoplasia type 2E Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the VPS53 gene.

More info about this panel

VPS53 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the VPS53 gene.

More info about this panel


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