FBXO7 gene related symptoms and diseases

All the information presented here about the FBXO7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FBXO7 gene

Symptoms // Phenotype % Cases
Spasticity Very Common - Between 80% and 100% cases
Slow saccadic eye movements Very Common - Between 80% and 100% cases
Intention tremor Very Common - Between 80% and 100% cases
Lower limb spasticity Very Common - Between 80% and 100% cases
Clonus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FBXO7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal autonomic nervous system physiology
  • Akinesia
  • Ankle clonus
  • Blepharospasm
  • Lewy bodies
  • Visual hallucinations
  • Bradykinesia
  • Hypomimic face

And 33 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FBXO7 gene

Here you will find a list of rare diseases related to the FBXO7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PARKINSONIAN-PYRAMIDAL SYNDROME


Alternate names

PARKINSONIAN-PYRAMIDAL SYNDROME Is also known as pkps, pallidopyramidal syndrome, parkinsonian-pyramidal syndrome, pallido-pyramidal syndrome

Description

Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).

Most common symptoms of PARKINSONIAN-PYRAMIDAL SYNDROME

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor


More info about PARKINSONIAN-PYRAMIDAL SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for FBXO7 gene

Dystonia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Movement Disorders Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX

More info about this panel

Parkinson's Disease Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Parkinson's Disease that also includes the following genes: SLC6A3 SNCA TAF1 TH VPS35 FBXO7 PINK1 PARK7 LRRK2 CSF1R

More info about this panel

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

Parkinson disease 15 (PARK15, sequence analysis of FBXO7 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FBXO7 gene.

More info about this panel

Parkinson disease (NGS panel for 10 genes) Panel

Portugal.

By CGC Genetics Parkinson disease (NGS panel for 10 genes) that also includes the following genes: SNCA VPS35 FBXO7 PINK1 DNAJC6 PARK7 LRRK2 ATP13A2 PRKN PLA2G6

More info about this panel

Parkinson disease (NGS panel for 33 genes) Panel

Portugal.

By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35

More info about this panel

Parkinson Disease via FBXO7 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FBXO7 gene.

More info about this panel

Parkinson Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease Sequencing Panel with CNV Detection that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 GIGYF2 UCHL1 VPS35 FBXO7 HTRA2

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

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

PARK15 Parkinsonism Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FBXO7 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Parkinsons disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35

More info about this panel

Hereditary Degenerative Syndromes Panel Panel

Germany.

By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A

More info about this panel

Parkinson all Panel Panel

Germany.

By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7

More info about this panel

Atypical Parkinson syndrome Panel Panel

Germany.

By CeGaT GmbH Atypical Parkinson syndrome Panel that also includes the following genes: ATXN2 SPG11 SYNJ1 TH FBXO7 DNAJC6 RAB39B ATP6AP2 ZFYVE26 SLC30A10

More info about this panel

Parkinson Syndrome, autosomal recessive Panel Panel

Germany.

By CeGaT GmbH Parkinson Syndrome, autosomal recessive Panel that also includes the following genes: SYNJ1 FBXO7 PINK1 DNAJC6 PARK7 VPS13C SLC30A10 ATP13A2 PRKN PLA2G6

More info about this panel

Parkinson Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Parkinson Disease that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35 FBXO7

More info about this panel

Invitae Hereditary Parkinson's Disease and Parkinsonism Panel Panel

United States.

By Invitae Invitae Hereditary Parkinson's Disease and Parkinsonism Panel that also includes the following genes: SLC6A3 SNCA SPR TH VPS35 FBXO7 PINK1 DNAJC6 PARK7 LRRK2

More info about this panel

PARKINSON DISEASE Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases PARKINSON DISEASE that also includes the following genes: SNCA TAF1 VPS35 FBXO7 PINK1 PARK7 LRRK2 ATP13A2 PRKN PLA2G6

More info about this panel

NGS panel - Parkinson Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1

More info about this panel

Dystonia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Parkinson-Alzheimer-Dementia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS

More info about this panel

FBXO7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FBXO7 gene.

More info about this panel

Parkinson Disease Panel Panel

Finland.

By Blueprint Genetics Parkinson Disease Panel that also includes the following genes: SLC20A2 SLC6A3 SNCA SPR SYNJ1 TH VPS35 FBXO7 PINK1 DNAJC6

More info about this panel

Parkinson Disease, Early Onset NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Parkinson Disease, Early Onset NGS and Deletion/Duplication Panel that also includes the following genes: SNCA FBXO7 PINK1 DNAJC6 PARK7 ATP13A2 GCH1 PRKN PLA2G6

More info about this panel

FBXO7 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the FBXO7 gene.

More info about this panel

PARKINSON TYPE 15 (PARK15) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the FBXO7 gene.

More info about this panel

PARKINSON NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PARKINSON NGS PANEL that also includes the following genes: SLC6A3 SMPD1 SNCA SYNJ1 UCHL1 VPS35 FBXO7 HTRA2 PINK1 DNAJC6

More info about this panel

Parkinson Disease , Panel Massive Sequencing (NGS) 11 Genes Panel

Spain.

By Reference Laboratory Genetics Parkinson Disease , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SLC6A3 SNCA TAF1 VPS35 FBXO7 PINK1 PARK7 LRRK2 ATP13A2 PRKN

More info about this panel

Parkinson Disease: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Parkinson Disease: gene sequencing panel that also includes the following genes: SLC6A3 SNCA TAF1 VPS35 FBXO7 PINK1 PARK7 LRRK2 ATP13A2 PRKN

More info about this panel


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