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.

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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

SOURCES: OMIM ORPHANET


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

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

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

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

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

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

PLEKHG4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PLEKHG4 gene.

More info about this panel

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


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