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.

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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

SOURCES: OMIM ORPHANET MESH


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

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

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

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

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

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

Neuroacanthocytosis Panel Panel

Germany.

By CeGaT GmbH Neuroacanthocytosis Panel that also includes the following genes: XK JPH3 PANK2 VPS13A

More info about this panel

Single gene testing JPH3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the JPH3 gene.

More info about this panel

Huntington disease like 2 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the JPH3 gene.

More info about this panel

JPH3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the JPH3 gene.

More info about this panel

HUNTINGTON DISEASE-LIKE 2 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the JPH3 gene.

More info about this panel


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