CHAT gene related symptoms and diseases

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

Symptoms // Phenotype	% Cases
Diplopia	Very Common - Between 80% and 100% cases
Ophthalmoplegia	Very Common - Between 80% and 100% cases
Fatigable weakness	Very Common - Between 80% and 100% cases
Generalized muscle weakness	Very Common - Between 80% and 100% cases
Proximal muscle weakness	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

Commonly - More than 50% cases
Easy fatigability
Weak cry
Polyhydramnios
Cyanosis
Bulbar palsy
Seizures
Dysphagia
Feeding difficulties

And 97 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CHAT gene

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

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

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Alternate names

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea, congenital myasthenic syndrome type ia2, formerly, cms ia2, formerly, cms1a2, formerly, cmsea, fimg2, formerly, myasthenia, familial infantile, formerly, myasthenia gravis, familial in

Description

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Seizures
Generalized hypotonia
Hearing impairment
Failure to thrive
Strabismus

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

SOURCES: ORPHANET OMIM

Search interest in CHAT

Potential gene panels for CHAT gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

CHAT gene related symptoms and diseases

Top 5 symptoms and clinical features associated to CHAT gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to CHAT gene

PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Description

Most common symptoms of PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Alternate names

Description

Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Search interest in CHAT

Potential gene panels for CHAT gene

MitoMet®Plus aCGH Analysis Panel

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

Congenital Myasthenic Syndrome Advanced Sequencing Evaluation Panel

Neuromuscular Disorders Panel Panel

Congenital Contractures Panel Panel

Comprehensive Neuromuscular Panel Panel

Neuromuscular Disorders Sequencing Panel Panel

Congenital Myasthenic Syndrome Sequencing Panel Panel

Congenital Myasthenic Syndrome Deletion/Duplication Panel Panel

CHAT. Complete sequencing Panel

CHRNA1, CHAT, CHRNE, RAPSN, DOK7, COLQ. NextGeneDx.Complete sequencing by NGS Panel

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

Myasthenic syndrome, congenital (sequence analysis of CHAT gene) Panel

Congenital Myasthenic Syndrome with Episodic Apnea via CHAT Gene Sequencing with CNV Detection Panel

Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection Panel

Comprehensive Neuromuscular Sequencing Panel Panel

CHAT-Related Congenital Myasthenic Syndrome Panel

Neurogenetic Disorders - panels Panel

Congenital Myasthenic Syndrome (CMS) Panel

Newborn: “Floppy Infant “ Panel

Muscle Disease with Ptosis / External Ophthalmoplegia Panel

Newborn: Neonatal Apneas Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Congenital Myasthenic Syndrome Panel Panel

Myasthenic syndrome, congenital Panel

Congenital myasthenic syndrome panel Panel

AllNeuro panel Panel

Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel

Myasthenic syndrome, asso. with episodic apnea Panel

Myasthenic syndrome, asso. with episodic apnea Panel

Invitae Comprehensive Neuromuscular Disorders Panel Panel

Invitae Congenital Myasthenic Syndrome Panel Panel

Myasthenic, Congenital: CHRNA1 (G153S), CHAT (I305T), RAPSN (N88K) and CHRNE (1267delG, 1293insG) genes mutations analysis Panel

Myasthenic, Congenital:CHAT gene sequence analysis Panel

Congenital Myasthenic Panel

Congenital Myasthenic Syndromes: Sequencing Panel Panel

Expanded Neuromuscular Disorders: Sequencing Panel Panel

Congenital Myasthenic Syndromes: Deletion/Duplication Panel Panel

Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel

Nuclear-Mito NGS Panel Panel

Congenital Myasthenic Syndrome NGS Panel Panel

CHAT Panel

Congenital Myasthenic Syndromes Panel Panel

Central Hypoventilation and Apnea Panel Panel

Arthrogryposes Panel Panel

Comprehensive Pulmonology Panel Panel

Catecholaminergic polymorphic ventricular tachycardia type 1 Panel

MYASTHENIC SYNDROME WITH EPISODIC APNEA (FAMILIAL INFANTIL MYASTHENYA) Panel

MYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel

Congenital Myasthenia , Sequencing CHAT Gene Panel

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

Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel