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.
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
Search interest in VPS53
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 Portugal.
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 United States.
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 United States.
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 Germany.
VPS53 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the VPS53 gene.
More info about this panel United States.
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