PINK1 gene related symptoms and diseases

All the information presented here about the PINK1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to PINK1 gene

Symptoms // Phenotype	% Cases
Pain	Uncommon - Between 30% and 50% cases
Hypotension	Uncommon - Between 30% and 50% cases
Hypomimic face	Uncommon - Between 30% and 50% cases
Lewy bodies	Uncommon - Between 30% and 50% cases
Orthostatic hypotension	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PINK1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Resting tremor
Urinary urgency
Akinesia
Abnormal autonomic nervous system physiology
Psychosis
Bradykinesia
Neuronal loss in central nervous system
Gliosis

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PINK1 gene

Here you will find a list of rare diseases related to the PINK1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

Alternate names

PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 Is also known as parkinson disease 6, early-onset, park6

Most common symptoms of PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

Pain
Cognitive impairment
Hyperreflexia
Tremor
Behavioral abnormality

More info about PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

SOURCES: OMIM MESH

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

Search interest in PINK1

Potential gene panels for PINK1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

PINK1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to PINK1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to PINK1 gene

PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

Alternate names

Most common symptoms of PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

YOUNG-ONSET PARKINSON DISEASE

Alternate names

Description

Search interest in PINK1

Potential gene panels for PINK1 gene

MitoMet®Plus aCGH Analysis Panel

PINK1 DNA Sequencing Test Panel

Complete Parkinsonism Evaluation Panel

PINK1 Deletion Test Panel

Dystonia Panel

Movement Disorders Panel Panel

Parkinson's Disease Panel

Dystonia Exome Panel Panel

PINK1 Panel

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

PINK1. Complete sequencing Panel

Parkinson disease (NGS panel for 10 genes) Panel

Parkinson disease (NGS panel for 33 genes) Panel

Parkinson disease type 6 (PARK6, sequence analysis of PINK1 gene) Panel

Parkinson's Disease, Early Onset via PINK1 Gene Sequencing with CNV Detection Panel

Parkinson Disease Sequencing Panel with CNV Detection Panel

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

Neurogenetic Disorders - panels Panel

Comprehensive mitochondrial disorders panel Panel

AllNeuro panel Panel

PARK6 Parkinsonism Panel

Parkinsons disease panel Panel

Parkinson all Panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Parkinson Syndrome, autosomal recessive Panel Panel

Single gene testing PINK1 Panel

Test for PINK1 Type of Young-Onset Parkinson Disease Panel

Parkinson Disease Panel

Invitae Hereditary Parkinson's Disease and Parkinsonism Panel Panel

Parkinson disease: LRRK2 gene (exons 31, 41) and PINK1 gene (exon 4) screening Panel

Parkinson disease 6: PINK1 (PARK6) gene sequence analysis Panel

PARKINSON DISEASE Panel

NGS panel - Parkinson Panel

PINK1(PARK6)) - Gene Sequencing & Del/Dup analysis Panel

Dystonia: Sequencing Panel Panel

Parkinson-Alzheimer-Dementia NGS Panel Panel

PINK1 Panel

Parkinson Disease Panel Panel

Parkinson disease type 6 Panel

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

PINK1 Gene Sequencing and Deletion/Duplication Panel

PARKINSON NGS PANEL Panel

Parkinson Disease Type 6, Sequencing PINK1 (PARK6) Gene Panel

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

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

Parkinson Disease: gene sequencing panel Panel

PINK1 Type of Young-Onset Parkinson Disease: gene sequencing Panel

PINK1 Type of Young-Onset Parkinson Disease: gene deletion/duplication Panel