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.

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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

SOURCES: ORPHANET OMIM

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


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

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

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

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

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

Single gene testing XPR1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the XPR1 gene.

More info about this panel

XPR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the XPR1 gene.

More info about this panel

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

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


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