STAC3 gene related symptoms and diseases

All the information presented here about the STAC3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to STAC3 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Long face	Very Common - Between 80% and 100% cases
Hyporeflexia	Very Common - Between 80% and 100% cases
Brachycephaly	Very Common - Between 80% and 100% cases
Kyphoscoliosis	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with STAC3 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Conductive hearing impairment
Proximal muscle weakness
Telecanthus
Facial palsy
Blepharophimosis
Arthrogryposis multiplex congenita
Abnormality of the foot
Talipes

And 42 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to STAC3 gene

Here you will find a list of rare diseases related to the STAC3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

NATIVE AMERICAN MYOPATHY

Alternate names

NATIVE AMERICAN MYOPATHY Is also known as nam, myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia, native american myopathy, congenital myopathy-cleft palate-malignant hyperthermia syndrome

Description

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

Most common symptoms of NATIVE AMERICAN MYOPATHY

Intellectual disability
Short stature
Generalized hypotonia
Hearing impairment
Microcephaly

More info about NATIVE AMERICAN MYOPATHY

SOURCES: OMIM MESH ORPHANET

Search interest in STAC3

Potential gene panels for STAC3 gene

Neuromuscular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2

STAC3 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to STAC3 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to STAC3 gene

NATIVE AMERICAN MYOPATHY

Alternate names

Description

Most common symptoms of NATIVE AMERICAN MYOPATHY

Search interest in STAC3

Potential gene panels for STAC3 gene

Neuromuscular Disorders Panel Panel

Neuromuscular Disorders Sequencing Panel Panel

Congenital Myopathy Sequencing Panel Panel

Congenital Myopathy Deletion/Duplication Panel Panel

Congenital Myopathy (Native American Myopathy) via STAC3 Gene Sequencing with CNV Detection Panel

Congenital Myopathy Sequencing Panel Panel

Malignant Hyperthermia Susceptibility Sequencing Panel with CNV Detection Panel

Comprehensive Neuromuscular Sequencing Panel Panel

Muscle Disease with CNS Involvement Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Native American myopathy Panel

Congenital and Distal Myopathies Panel Panel

Congenital Myopathy and Distal Myopathy NGS panel Panel

Invitae Comprehensive Neuromuscular Disorders Panel Panel

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel

Invitae Congenital Myopathy Panel Panel

Invitae Comprehensive Myopathy Panel Panel

STAC3 Panel