1. Mendelian
  2. Rare Disease Genes
  3. UNC13A

UNC13A gene related symptoms and diseases

All the information presented here about the UNC13A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to UNC13A gene

Symptoms // Phenotype % Cases
Microcephaly Very Common - Between 80% and 100% cases
Xerostomia Very Common - Between 80% and 100% cases
Peripheral demyelination Very Common - Between 80% and 100% cases
Fasciculations Very Common - Between 80% and 100% cases
Sleep apnea Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with UNC13A gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Slurred speech
  • Emotional lability
  • Amyotrophic lateral sclerosis
  • Agitation
  • Bulbar palsy
  • Muscle fibrillation
  • Frontotemporal dementia
  • Gliosis

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to UNC13A gene

Here you will find a list of rare diseases related to the UNC13A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AMYOTROPHIC LATERAL SCLEROSIS

Alternate names

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial

Description

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


More info about AMYOTROPHIC LATERAL SCLEROSIS

SOURCES: OMIM MESH ORPHANET


Potential gene panels for UNC13A gene

Amyotrophic Lateral Sclerosis (ALS) Panel Panel

Germany.

By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2

More info about this panel
Germany.

UNC13A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the UNC13A gene.

More info about this panel
United States.

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