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.
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 featuresPatients 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
- Bulbar palsy
- Muscle fibrillation
- Frontotemporal dementia
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
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
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
- Muscle weakness
More info about AMYOTROPHIC LATERAL SCLEROSIS
Search interest in UNC13A
Potential gene panels for UNC13A gene
Amyotrophic Lateral Sclerosis (ALS) Panel Panel
By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2More info about this panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the UNC13A gene.More info about this panel