PLEKHG4 gene related symptoms and diseases
All the information presented here about the PLEKHG4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PLEKHG4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ataxia | Very Common - Between 80% and 100% cases |
| Sensory neuropathy | Very Common - Between 80% and 100% cases |
| Limb dysmetria | Very Common - Between 80% and 100% cases |
| Impaired proprioception | Very Common - Between 80% and 100% cases |
| Absent Achilles reflex | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PLEKHG4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Motor deterioration
- Motor axonal neuropathy
- Impaired smooth pursuit
- Sensory axonal neuropathy
- Impaired vibratory sensation
- Progressive cerebellar ataxia
- Distal sensory impairment
- Muscle weakness
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PLEKHG4 gene
Here you will find a list of rare diseases related to the PLEKHG4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPINOCEREBELLAR ATAXIA TYPE 4
Alternate names
SPINOCEREBELLAR ATAXIA TYPE 4 Is also known as spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy, sca4
Description
Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.
Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 4
- Ataxia
- Muscle weakness
- Peripheral neuropathy
- Dysarthria
- Gait disturbance
More info about SPINOCEREBELLAR ATAXIA TYPE 4
Search interest in PLEKHG4
Potential gene panels for PLEKHG4 gene
Sequence analysis of PLEKHG4 gene Panel
Portugal.
By CGC Genetics
This panel specifically test the PLEKHG4 gene.
More info about this panel Portugal.
Detection of c.-16C>T mutations on PLEKHG4 gene Panel
Portugal.
By CGC Genetics
This panel specifically test the PLEKHG4 gene.
More info about this panel Portugal.
Hereditary ataxias (NGS panel for 44 genes) Panel
Portugal.
By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12
More info about this panel Portugal.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Spinocerebellar ataxia type 4, autosomal dominant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PLEKHG4 gene.
More info about this panel Germany.
Spinocerebellar ataxia type 4 (SCA4): PLEKHG4 gene mutation analysis (C>T transition 5´UTR region) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PLEKHG4 gene.
More info about this panel Spain.
PLEKHG4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PLEKHG4 gene.
More info about this panel United States.
SPINOCEREBELLAR ATAXIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX
More info about this panel Spain.
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