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.
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
Search interest in DNAJC6
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 United States.
DNAJC6 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the DNAJC6 gene.
More info about this panel Germany.
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 Portugal.
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 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.
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.
PARK19 Parkinson Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DNAJC6 gene.
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 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.
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 Germany.
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 Germany.
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.
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.
DNAJC6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DNAJC6 gene.
More info about this panel United States.
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, 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.
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 United States.
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.
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