AGRN gene related symptoms and diseases

All the information presented here about the AGRN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,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 AGRN gene

Symptoms // Phenotype	% Cases
Diplopia	Very Common - Between 80% and 100% cases
High palate	Very Common - Between 80% and 100% cases
Easy fatigability	Very Common - Between 80% and 100% cases
Ptosis	Very Common - Between 80% and 100% cases
Muscle weakness	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

Commonly - More than 50% cases
Cyanosis
EMG: myopathic abnormalities
Facial palsy
Proximal muscle weakness
Not very common - Between 30% and 50% cases
EMG: impaired neuromuscular transmission
Apneic episodes precipitated by illness, fatigue, stress
Frontalis muscle weakness
Acetylcholine receptor antibody positivity

And 94 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to AGRN gene

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

MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8

Alternate names

MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8 Is also known as cmsppd, myasthenic syndrome, congenital, due to agrin deficiency, myasthenic syndrome, congenital, with pre- and postsynaptic defects

Description

Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction (NMJ) that are classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. CMS8 is an autosomal recessive disorder characterized by prominent defects of both the pre- and postsynaptic regions. Affected individuals have onset of muscle weakness in early childhood; the severity of the weakness and muscles affected is variable (summary by Maselli et al., 2012).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8

Muscle weakness
Ptosis
High palate
Respiratory insufficiency
Dyspnea

More info about MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8

SOURCES: OMIM

PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Description

Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Most common symptoms of PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Intellectual disability
Seizures
Ataxia
Nystagmus
Sensorineural hearing impairment

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

SOURCES: ORPHANET

POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Most common symptoms of POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Scoliosis
Muscle weakness
Ptosis
High palate
Skeletal muscle atrophy

More info about POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

SOURCES: ORPHANET

Search interest in AGRN

Potential gene panels for AGRN gene

Congenital Myasthenic Syndrome Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Congenital Myasthenic Syndrome Advanced Sequencing Evaluation that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 DPAGT1 AGRN

AGRN gene related symptoms and diseases

Top 5 symptoms and clinical features associated to AGRN gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to AGRN gene

MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8

Alternate names

Description

Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 8; CMS8

PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Description

Most common symptoms of PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Most common symptoms of POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Search interest in AGRN

Potential gene panels for AGRN gene

Congenital Myasthenic Syndrome Advanced Sequencing Evaluation Panel

Neuromuscular Disorders Sequencing Panel Panel

Congenital Myasthenic Syndrome Sequencing Panel Panel

Congenital Myasthenic Syndrome Deletion/Duplication Panel Panel

AGRN. Complete sequencing Panel

Myasthenic syndrome, congenital (NGS panel for 17genes) Panel

Limb-girdle myasthenia syndrome, familial (sequence analysis of AGRN gene) Panel

Myasthenic syndrome fast channel congenital (NGS panel for 8 genes) Panel

Familial Limb Girdle Myasthenic Syndrome via AGRN Gene Sequencing with CNV Detection Panel

Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection Panel

Comprehensive Neuromuscular Sequencing Panel Panel

AGRN-Related Congenital Myasthenic Syndrome Panel

Vascular and connective tissue diseases - panels Panel

Neurogenetic Disorders - panels Panel

Congenital Myasthenic Syndrome (CMS) Panel

Newborn: “Floppy Infant “ Panel

Muscle Disease with Ptosis / External Ophthalmoplegia Panel

Muscle Disease with Distal Myopathy Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Myasthenia limb-girdle familial Panel

Congenital myasthenic syndrome panel Panel

AllNeuro panel Panel

Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel

Invitae Comprehensive Neuromuscular Disorders Panel Panel

Invitae Congenital Myasthenic Syndrome Panel Panel

Congenital Myasthenic Panel

Congenital Myasthenic Syndrome NGS Panel Panel

AGRN Panel

Congenital Myasthenic Syndromes Panel Panel

Arthrogryposes Panel Panel

Congenital myasthenic syndrome Panel

MYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel

Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes Panel