SLC9A1 gene related symptoms and diseases
All the information presented here about the SLC9A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC9A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Dysphagia | Uncommon - Between 30% and 50% cases |
| Gait ataxia | Uncommon - Between 30% and 50% cases |
| Dysarthria | Uncommon - Between 30% and 50% cases |
| Tremor | Uncommon - Between 30% and 50% cases |
| Gait disturbance | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SLC9A1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypoplasia of the corpus callosum
- Cerebellar atrophy
- Areflexia
- Delayed puberty
- Motor delay
- Dysmetria
- Unsteady gait
- Vertigo
And 24 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC9A1 gene
Here you will find a list of rare diseases related to the SLC9A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ADENOCARCINOMA OF THE ESOPHAGUS
Alternate names
ADENOCARCINOMA OF THE ESOPHAGUS Is also known as esophageal adenocarcinoma, barrett metaplasia
Description
Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.
Most common symptoms of ADENOCARCINOMA OF THE ESOPHAGUS
- Dysphagia
- Obesity
- Gastroesophageal reflux
- Feeding difficulties in infancy
- Cough
More info about ADENOCARCINOMA OF THE ESOPHAGUS
PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME
Alternate names
PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME Is also known as scar19, progressive autosomal recessive ataxia-sensorineural hearing loss syndrome, lichtenstein-knorr syndrome, spinocerebellar ataxia, autosomal recessive 19
Description
Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015).
Most common symptoms of PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME
- Seizures
- Short stature
- Hearing impairment
- Ataxia
- Nystagmus
More info about PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME
Search interest in SLC9A1
Potential gene panels for SLC9A1 gene
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Ataxia and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panel Germany.
Ataxia, autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14
More info about this panel Germany.
Spinocerebellar Ataxia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX
More info about this panel Estonia.
SLC9A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC9A1 gene.
More info about this panel United States.
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