XPR1 gene related symptoms and diseases
All the information presented here about the XPR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to XPR1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Memory impairment | Very Common - Between 80% and 100% cases |
| Gait disturbance | Very Common - Between 80% and 100% cases |
| Cerebral calcification | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Chorea | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with XPR1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Slurred speech
- Parkinsonism
- Neurological speech impairment
- Basal ganglia calcification
- Choreoathetosis
- Dementia
- Depressivity
- Dystonia
And 72 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to XPR1 gene
Here you will find a list of rare diseases related to the XPR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BILATERAL STRIOPALLIDODENTATE CALCINOSIS
Alternate names
BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis, primary familial brain calcification, ferrocalcinosis, cerebrovascular, pfbc, bspdc, striopallidodentate calcinosis, bilateral, cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset, basal ganglia calcification, id
Description
Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.
Most common symptoms of BILATERAL STRIOPALLIDODENTATE CALCINOSIS
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Ataxia
More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6
Description
Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by Legati et al., 2015).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).
Most common symptoms of BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6
- Seizures
- Cognitive impairment
- Dysarthria
- Gait disturbance
- Behavioral abnormality
More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6
SOURCES: OMIM
Search interest in XPR1
Potential gene panels for XPR1 gene
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 XPR1 PDGFB PDGFRB
More info about this panel United States.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panel United States.
Basal ganglia calcification type 6, idiopathic Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the XPR1 gene.
More info about this panel Germany.
Basal ganglia calcification Panel Panel
Germany.
By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2
More info about this panel Germany.
Single gene testing XPR1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the XPR1 gene.
More info about this panel Germany.
XPR1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the XPR1 gene.
More info about this panel United States.
Primary Familial Brain Calcification Type 6 , Sequencing XPR1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the XPR1 gene.
More info about this panel Spain.
Primary Familial Brain Calcification: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Familial Brain Calcification: gene sequencing panel that also includes the following genes: SLC20A2 XPR1 PDGFB PDGFRB
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HSD17B4 PRPH2