DNAJC6 gene related symptoms and diseases

All the information presented here about the DNAJC6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DNAJC6 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Inability to walk Common - Between 50% and 80% cases
Anarthria Common - Between 50% and 80% cases
Shuffling gait Common - Between 50% and 80% cases
Hypomimic face Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with DNAJC6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Resting tremor
  • Seizures
  • Bradykinesia
  • Brain atrophy
  • Postural instability
  • Akinesia
  • Abnormal pyramidal sign
  • Rigidity

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DNAJC6 gene

Here you will find a list of rare diseases related to the DNAJC6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A


Alternate names

PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A Is also known as park19, formerly

Description

Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by Edvardson et al., 2012 and Koroglu et al., 2013).Parkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy (Olgiati et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

Most common symptoms of PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


More info about PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A

SOURCES: 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

ATYPICAL JUVENILE PARKINSONISM


Description

Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.

Most common symptoms of ATYPICAL JUVENILE PARKINSONISM

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Fatigue
  • Dystonia


More info about ATYPICAL JUVENILE PARKINSONISM

SOURCES: ORPHANET


Potential gene panels for DNAJC6 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

DNAJC6 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the DNAJC6 gene.

More info about this panel

Parkinson disease 19 (PARK19, sequence analysis of DNAJC6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DNAJC6 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 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

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

PARK19 Parkinson Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DNAJC6 gene.

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

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

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

DNAJC6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DNAJC6 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

DNAJC6 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 DNAJC6 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


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