JPH3 gene related symptoms and diseases
All the information presented here about the JPH3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to JPH3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Parkinsonism | Very Common - Between 80% and 100% cases |
| Abnormal corpus striatum morphology | Very Common - Between 80% and 100% cases |
| Caudate atrophy | Very Common - Between 80% and 100% cases |
| Functional motor deficit | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with JPH3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Primitive reflex
- Acanthocytosis
- Action tremor
- Delusions
- Personality changes
- Apathy
- Hallucinations
- Involuntary movements
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to JPH3 gene
Here you will find a list of rare diseases related to the JPH3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HUNTINGTON DISEASE-LIKE 2
Alternate names
HUNTINGTON DISEASE-LIKE 2 Is also known as hdl2
Description
Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.
Most common symptoms of HUNTINGTON DISEASE-LIKE 2
- Seizures
- Ataxia
- Hyperreflexia
- Dysarthria
- Gait disturbance
More info about HUNTINGTON DISEASE-LIKE 2
Search interest in JPH3
Potential gene panels for JPH3 gene
Huntington Disease-Like 2 Panel
United States.
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the JPH3 gene.
More info about this panel United States.
Huntington Disease-Like 2 Panel
Italy.
By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR
This panel specifically test the JPH3 gene.
More info about this panel Italy.
Huntington disease-like 2 (HDL2, CAG expansion on JPH3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the JPH3 gene.
More info about this panel Portugal.
Huntington disease-like type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the JPH3 gene.
More info about this panel Germany.
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 Germany.
Choreatic Movement Disorders Panel Panel
Germany.
By CeGaT GmbH Choreatic Movement Disorders Panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP NKX2-1 FRRS1L JPH3 RNF216 ADCY5 C9orf72
More info about this panel Germany.
Neuroacanthocytosis Panel Panel
Germany.
By CeGaT GmbH Neuroacanthocytosis Panel that also includes the following genes: XK JPH3 PANK2 VPS13A
More info about this panel Germany.
Single gene testing JPH3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the JPH3 gene.
More info about this panel Germany.
Huntington disease like 2 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the JPH3 gene.
More info about this panel Austria.
JPH3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the JPH3 gene.
More info about this panel United States.
HUNTINGTON DISEASE-LIKE 2 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the JPH3 gene.
More info about this panel Spain.
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