SNCA gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to SNCA gene

Symptoms // Phenotype % Cases
Dementia Very Common - Between 80% and 100% cases
Rigidity Very Common - Between 80% and 100% cases
Bradykinesia Common - Between 50% and 80% cases
Lewy bodies Common - Between 50% and 80% cases
Parkinsonism Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

  • Dystonia
  • Depressivity
  • Dysarthria
  • Tremor
  • Dysphagia
  • Dyskinesia
  • Gliosis
  • Not very common - Between 30% and 50% cases

  • Sleep disturbance

And 179 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SNCA gene

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


DEMENTIA, LEWY BODY; DLB

Alternate names

DEMENTIA, LEWY BODY; DLB Is also known as lewy body dementia, diffuse lewy body disease

Description

Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; {168600}). Alzheimer disease (AD )-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).

Most common symptoms of DEMENTIA, LEWY BODY; DLB

  • Cognitive impairment
  • Dysarthria
  • Depressivity
  • Pneumonia
  • Dementia


More info about DEMENTIA, LEWY BODY; DLB

SOURCES: ORPHANET OMIM

PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

Alternate names

PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1 Is also known as parkinson disease 1, autosomal dominant lewy body

Description

Parkinson disease is the second most common neurogenic disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50. Clinical manifestations include resting tremor, muscular rigidity, bradykinesia, and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia (Polymeropoulos et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see {168600}.

Most common symptoms of PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
  • Tremor


More info about PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1

SOURCES: OMIM MESH

PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4

Alternate names

PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 Is also known as parkinson disease 4, autosomal dominant lewy body

Most common symptoms of PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4

  • Generalized hypotonia
  • Cognitive impairment
  • Tremor
  • Dementia
  • Weight loss


More info about PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4

SOURCES: OMIM MESH

WILSON DISEASE

Alternate names

WILSON DISEASE Is also known as wd, hepatolenticular degeneration, wnd

Description

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Most common symptoms of WILSON DISEASE

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


More info about WILSON DISEASE

SOURCES: MESH OMIM ORPHANET

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

YOUNG-ONSET PARKINSON DISEASE

Alternate names

YOUNG-ONSET PARKINSON DISEASE Is also known as yopd, early-onset parkinson disease

Description

Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.


More info about YOUNG-ONSET PARKINSON DISEASE

SOURCES: ORPHANET

HEREDITARY LATE-ONSET PARKINSON DISEASE

Alternate names

HEREDITARY LATE-ONSET PARKINSON DISEASE Is also known as autosomal dominant late-onset parkinson disease, lopd

Description

Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).

Most common symptoms of HEREDITARY LATE-ONSET PARKINSON DISEASE

  • Dysphagia
  • Dystonia
  • Depressivity
  • Dementia
  • Cerebral cortical atrophy


More info about HEREDITARY LATE-ONSET PARKINSON DISEASE

SOURCES: ORPHANET


Potential gene panels for SNCA gene

Alpha Synuclein (SNCA) Duplication/Deletion Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the SNCA gene.

More info about this panel
United States.

Alpha Synuclein (SNCA) DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the SNCA gene.

More info about this panel
United States.

Complete Parkinsonism Evaluation Panel

United States.

By Athena Diagnostics Inc Complete Parkinsonism Evaluation that also includes the following genes: SNCA PINK1 PARK7 LRRK2 PRKN

More info about this panel
United States.

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
United States.

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
United States.

SNCA Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the SNCA gene.

More info about this panel
Germany.

SNCA. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SNCA gene.

More info about this panel
Spain.

SNCA. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SNCA gene.

More info about this panel
Spain.

SNCA. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SNCA gene.

More info about this panel
Spain.

SNCA. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the SNCA gene.

More info about this panel
Spain.

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
Portugal.

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
Portugal.

Parkinson disease 1/4 (PARK1/4, deletion/duplication analysis on SNCA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SNCA gene.

More info about this panel
Portugal.

Dementia with Lewy bodies (sequence analysis of SNCA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SNCA gene.

More info about this panel
Portugal.

Dementia with Lewy bodies (deletion/duplication analisis on SNCA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SNCA gene.

More info about this panel
Portugal.

Parkinson disease 1/4 (PARK1/4, sequence analysis of SNCA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SNCA gene.

More info about this panel
Portugal.

Alzheimer disease (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Alzheimer disease (NGS panel for 8 genes) that also includes the following genes: SNCA SNCB SORL1 APOE APP PRNP PSEN1 PSEN2

More info about this panel
Portugal.

Hereditary dementias (NGS panel for 28 genes) Panel

Portugal.

By CGC Genetics Hereditary dementias (NGS panel for 28 genes) that also includes the following genes: SNCA SNCB SORL1 TARDBP TIMM8A TUBA4A TYROBP UBQLN2 VCP CHCHD10

More info about this panel
Portugal.

Parkinson's Disease via SNCA Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the SNCA gene.

More info about this panel
United States.

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
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.

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
Germany.

PARK1 Parkinsonism Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SNCA gene.

More info about this panel
Germany.

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
Germany.

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
Germany.

Parkinson Syndrome, autosomal dominant Panel Panel

Germany.

By CeGaT GmbH Parkinson Syndrome, autosomal dominant Panel that also includes the following genes: SNCA VPS35 HTRA2 LRRK2 CHCHD2 DNAJC13 EIF4G1 GBA PRKAR1B RAB29

More info about this panel
Germany.

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
Germany.

Single gene testing SNCA Panel

Germany.

By CeGaT GmbH

This panel specifically test the SNCA gene.

More info about this panel
Germany.

SNCA Panel

Spain.

By Innovagenomics Innovagenomics S.L

This panel specifically test the SNCA gene.

More info about this panel
Spain.

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
Estonia.

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
United States.

Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel Panel

United States.

By Invitae Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SNCA SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB VCP CHCHD10

More info about this panel
United States.

Parkinson disease 1: SNCA (PARK1) gene (exons 3-4) screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SNCA gene.

More info about this panel
Spain.

Parkinson disease 1: SNCA (PARK1) gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SNCA gene.

More info about this panel
Spain.

Parkinson disease 1: SNCA (PARK1) gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the SNCA gene.

More info about this panel
Spain.

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
Spain.

NGS panel - dementia Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB

More info about this panel
Netherlands.

SNCA(PARK1) - Gene Sequencing & Del/Dup analysis Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the SNCA gene.

More info about this panel
Netherlands.

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
Netherlands.

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
United States.

SNCA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SNCA gene.

More info about this panel
United States.

Dementia Panel Panel

Finland.

By Blueprint Genetics Dementia Panel that also includes the following genes: SNCA SORL1 TARDBP TUBA4A UBE3A UBQLN2 VCP TREM2 RNF216 CSF1R

More info about this panel
Finland.

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
Finland.

Parkinson disease 4 Panel

Spain.

By Bioarray

This panel specifically test the SNCA gene.

More info about this panel
Spain.

Parkinson disease type 1 Panel

Spain.

By Bioarray

This panel specifically test the SNCA gene.

More info about this panel
Spain.

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
United States.

SNCA 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 SNCA gene.

More info about this panel
United States.

Parkinson Disease (SNCA gene) Panel

Belgium.

By Diagnostic Service Facility University of Antwerp

This panel specifically test the SNCA gene.

More info about this panel
Belgium.

PARKINSONISM, LEWY BODY (PARK1/ PARK4) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the SNCA gene.

More info about this panel
Spain.

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
Spain.

Parkinson Disease Type 4, Sequencing SNCA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SNCA gene.

More info about this panel
Spain.

Parkinson Disease Type 1, Sequencing Exons (3-4) SNCA (PARK1) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SNCA gene.

More info about this panel
Spain.

Parkinson Disease Type 4, Deletions-Duplications (MLPA) SNCA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the SNCA gene.

More info about this panel
Spain.

Parkinson Disease , Deletions-Duplications (MLPA) SNCA, PARK2, PINK1, PARK7, LRRK2, UCHL1 Genes Panel

Spain.

By Reference Laboratory Genetics Parkinson Disease , Deletions-Duplications (MLPA) SNCA, PARK2, PINK1, PARK7, LRRK2, UCHL1 Genes that also includes the following genes: SNCA UCHL1 PINK1 PARK7 LRRK2 PRKN

More info about this panel
Spain.

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
Spain.

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
Canada.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HSD17B4 CTSF APOL1 HADHA CC2D2A GRIN2B TDP2