CASQ1 gene related symptoms and diseases

All the information presented here about the CASQ1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CASQ1 gene

Symptoms // Phenotype % Cases
Muscle cramps Very Common - Between 80% and 100% cases
Flexion contracture Very Common - Between 80% and 100% cases
Muscle weakness Very Common - Between 80% and 100% cases
Myopathy Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CASQ1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Proximal muscle weakness
  • Myalgia
  • Not very common - Between 30% and 50% cases

  • Intellectual disability
  • Fatigable weakness
  • Ankle contracture
  • Areflexia of lower limbs
  • Abnormal pupil morphology
  • Fatiguable weakness of proximal limb muscles

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CASQ1 gene

Here you will find a list of rare diseases related to the CASQ1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TUBULAR AGGREGATE MYOPATHY


Most common symptoms of TUBULAR AGGREGATE MYOPATHY

  • Intellectual disability
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • Visual impairment


More info about TUBULAR AGGREGATE MYOPATHY

SOURCES: OMIM ORPHANET

MYOPATHY DUE TO CALSEQUESTRIN AND SERCA1 PROTEIN OVERLOAD


Description

Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.

Most common symptoms of MYOPATHY DUE TO CALSEQUESTRIN AND SERCA1 PROTEIN OVERLOAD

  • Muscle weakness
  • Flexion contracture
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Proximal muscle weakness


More info about MYOPATHY DUE TO CALSEQUESTRIN AND SERCA1 PROTEIN OVERLOAD

SOURCES: ORPHANET OMIM


Potential gene panels for CASQ1 gene

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1

More info about this panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Rhabdomyolysis and Metabolic Myopathies Panel that also includes the following genes: RYR1 SCN4A SLC16A1 SUCLA2 TWNK TK2 TSFM LPIN1 SLC25A20 CASQ1

More info about this panel

Congenital and Distal Myopathies Panel Panel

Germany.

By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3

More info about this panel

CASQ1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CASQ1 gene.

More info about this panel


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