HPCA gene related symptoms and diseases
All the information presented here about the HPCA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HPCA gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Feeding difficulties | Very Common - Between 80% and 100% cases |
| Torticollis | Very Common - Between 80% and 100% cases |
| Oromandibular dystonia | Very Common - Between 80% and 100% cases |
| Torsion dystonia | Very Common - Between 80% and 100% cases |
| Generalized dystonia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with HPCA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Blepharospasm
- Limb dystonia
- Mutism
- Involuntary movements
- Delayed speech and language development
- Difficulty walking
- Myoclonus
- Dystonia
And 5 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HPCA gene
Here you will find a list of rare diseases related to the HPCA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PRIMARY DYSTONIA, DYT2 TYPE
Alternate names
PRIMARY DYSTONIA, DYT2 TYPE Is also known as dyt2, dystonia musculorum deformans 2
Description
Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet.
Most common symptoms of PRIMARY DYSTONIA, DYT2 TYPE
- Feeding difficulties
- Delayed speech and language development
- Dysarthria
- Tremor
- Gait disturbance
More info about PRIMARY DYSTONIA, DYT2 TYPE
Search interest in HPCA
Potential gene panels for HPCA 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.
Dystonia (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B
More info about this panel Portugal.
Torsion dystonia 2 (DYT2, sequence analysis of HPCA gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HPCA gene.
More info about this panel Portugal.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
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.
DYT2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HPCA gene.
More info about this panel Germany.
Primary Torsion Dystonia Panel Panel
Germany.
By CeGaT GmbH Primary Torsion Dystonia Panel that also includes the following genes: ANO3 CIZ1 TUBB4A THAP1 COL6A3 TOR1A GNAL HPCA ATM
More info about this panel Germany.
Dystonia All Panel Panel
Germany.
By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panel Germany.
Dystonia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB
More info about this panel Estonia.
HPCA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HPCA gene.
More info about this panel United States.
DYSTONIAS (DYT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSTONIAS (DYT) NGS PANEL that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ACTB ANO3 PANK2 CIZ1 TUBB4A
More info about this panel Spain.
PRIMARY DYSTONIA TYPE (DYT2) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the HPCA gene.
More info about this panel Spain.
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