1. Mendelian
  2. Rare Disease Genes
  3. SLC30A6

SLC30A6 gene related symptoms and diseases

All the information presented here about the SLC30A6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to SLC30A6 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Progressive spastic paraplegia Very Common - Between 80% and 100% cases
Lower limb spasticity Very Common - Between 80% and 100% cases
Progressive muscle weakness Very Common - Between 80% and 100% cases
Spastic gait Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SLC30A6 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Paraparesis
  • Spastic paraparesis
  • Hyperkinesis
  • Apathy
  • Impaired vibratory sensation
  • Brisk reflexes
  • Agitation
  • Urinary urgency

And 47 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SLC30A6 gene

Here you will find a list of rare diseases related to the SLC30A6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4

Alternate names

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4 Is also known as familial spastic paraplegia, autosomal dominant, 2, spg4, fsp2

Description

Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.

Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 4

SOURCES: ORPHANET OMIM MESH



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRICKLE2 CASTOR3 G6PD FRMD7 GIGYF2 CUL4B DTNA