ALPK3 gene related symptoms and diseases

All the information presented here about the ALPK3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ALPK3 gene

Symptoms // Phenotype % Cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Ventricular hypertrophy Very Common - Between 80% and 100% cases
Left ventricular noncompaction Very Common - Between 80% and 100% cases
Right ventricular hypertrophy Very Common - Between 80% and 100% cases
Tricuspid regurgitation Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ALPK3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Pterygium
  • Ventricular arrhythmia
  • Cardiac arrest
  • Hydrops fetalis
  • Left ventricular hypertrophy
  • Cardiomegaly
  • Low-set ears
  • Dilated cardiomyopathy

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ALPK3 gene

Here you will find a list of rare diseases related to the ALPK3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


Description

CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Most common symptoms of CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

SOURCES: OMIM


Potential gene panels for ALPK3 gene

Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR

More info about this panel

ALPK3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALPK3 gene.

More info about this panel

Cardiomyopathy Panel Panel

Finland.

By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB

More info about this panel

Comprehensive Cardiology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA

More info about this panel

Dilated Cardiomyopathy (DCM) Panel Panel

Finland.

By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

Hypertrophic Cardiomyopathy (HCM) Panel Panel

Finland.

By Blueprint Genetics Hypertrophic Cardiomyopathy (HCM) Panel that also includes the following genes: BRAF SLC25A4 SOS1 TNNI3 TNNT2 TPM1 TTR ACTA1 ELAC2 JPH2

More info about this panel


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