MCID: MYS055
MIFTS: 21

Myasthenic Syndrome, Congenital, 6, Presynaptic malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section

Aliases & Descriptions for Myasthenic Syndrome, Congenital, 6, Presynaptic:

Name: Myasthenic Syndrome, Congenital, 6, Presynaptic 49 67
Congenital Myasthenic Syndrome Pre-Synaptic Associated with Episodic Apnea 67
Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 67
Congenital Myasthenic Syndrome Type Ia 67
Familial Infantile Myasthenia Gravis 2 67
Congenital Myasthenic Syndrome Type 1a 67
Familial Infantile Myasthenia 65
 
Cms-Ea 67
Cms Ia 67
Fimg2 67
Cms1a 67
Cmsea 67
Cms6 67

Characteristics:

HPO:

61
myasthenic syndrome, congenital, 6, presynaptic:
Onset and clinical course: congenital onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 254210
MedGen34 C0393929
MeSH36 D020294
UMLS65 C0393929

Summaries for Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section
UniProtKB/Swiss-Prot:67 Myasthenic syndrome, congenital, 6, presynaptic: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS6 affected individuals have myasthenic symptoms since birth or early infancy, negative tests for anti-AChR antibodies, and abrupt episodic crises with increased weakness, bulbar paralysis, and apnea precipitated by undue exertion, fever, or excitement. CMS6 inheritance is autosomal recessive.

MalaCards based summary: Myasthenic Syndrome, Congenital, 6, Presynaptic, also known as congenital myasthenic syndrome pre-synaptic associated with episodic apnea, is related to myasthenic syndrome, congenital, 1a, slow-channel and congenital myasthenic syndrome with episodic apnea, and has symptoms including type 2 muscle fiber atrophy, fatigable weakness and emg. An important gene associated with Myasthenic Syndrome, Congenital, 6, Presynaptic is CHAT (Choline O-Acetyltransferase). Affiliated tissues include testes and eye.

OMIM:49 Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ).... (254210) more...

Related Diseases for Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section

Diseases in the Presynaptic Congenital Myasthenic Syndromes family:

Myasthenic Syndrome, Congenital, 7, Presynaptic myasthenic syndrome, congenital, 6, presynaptic

Diseases related to Myasthenic Syndrome, Congenital, 6, Presynaptic via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, 1a, slow-channel11.7
2congenital myasthenic syndrome with episodic apnea11.6
3bladder disease10.3

Symptoms for Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section

Symptoms by clinical synopsis from OMIM:

254210

Clinical features from OMIM:

254210

HPO human phenotypes related to Myasthenic Syndrome, Congenital, 6, Presynaptic:

(show all 18)
id Description Frequency HPO Source Accession
1 type 2 muscle fiber atrophy HP:0003554
2 fatigable weakness HP:0003473
3 emg HP:0003403
4 decreased miniature endplate potentials HP:0003402
5 generalized hypotonia due to defect at the neuromuscular junction HP:0003397
6 sudden episodic apnea HP:0002882
7 apneic episodes precipitated by illness, fatigue, stress HP:0002872
8 arthrogryposis multiplex congenita HP:0002804
9 respiratory insufficiency due to muscle weakness HP:0002747
10 abnormality of the immune system HP:0002715
11 respiratory distress HP:0002098
12 poor suck HP:0002033
13 dysphagia HP:0002015
14 weak cry HP:0001612
15 bulbar palsy HP:0001283
16 ophthalmoparesis HP:0000597
17 ptosis HP:0000508
18 strabismus HP:0000486

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myasthenic Syndrome, Congenital, 6, Presynaptic

Genetic Tests for Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section

Anatomical Context for Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section

MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 6, Presynaptic:

33
Testes, Eye

Animal Models for Myasthenic Syndrome, Congenital, 6, Presynaptic or affiliated genes

About this section

Publications for Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section

Variations for Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 6, Presynaptic:

67
id Symbol AA change Variation ID SNP ID
1CHATp.Leu210ProVAR_011666rs28930071
2CHATp.Pro211AlaVAR_011667
3CHATp.Ile305ThrVAR_011668rs28929482
4CHATp.Arg420CysVAR_011669
5CHATp.Glu441LysVAR_011670rs28930070
6CHATp.Arg482GlyVAR_011671rs28929481
7CHATp.Ser498LeuVAR_011672
8CHATp.Val506LeuVAR_011673
9CHATp.Arg560HisVAR_011674
10CHATp.Ile336ThrVAR_038605

Clinvar genetic disease variations for Myasthenic Syndrome, Congenital, 6, Presynaptic:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1CHATCHAT, 2-BP INS, 523CCinsertionPathogenic
2CHATNM_020549.4(CHAT): c.631C> G (p.Pro211Ala)single nucleotide variantPathogenicrs121912815GRCh37Chr 10, 50828592: 50828592
3CHATNM_020549.4(CHAT): c.1321G> A (p.Glu441Lys)single nucleotide variantPathogenicrs121912816GRCh37Chr 10, 50856592: 50856592
4CHATNM_020549.4(CHAT): c.1516G> T (p.Val506Leu)single nucleotide variantPathogenicrs121912817GRCh37Chr 10, 50859934: 50859934
5CHATNM_020549.4(CHAT): c.1444A> G (p.Arg482Gly)single nucleotide variantPathogenicrs121912818GRCh37Chr 10, 50857615: 50857615
6CHATNM_020549.4(CHAT): c.1679G> A (p.Arg560His)single nucleotide variantPathogenicrs121912819GRCh37Chr 10, 50863185: 50863185
7CHATNM_020549.4(CHAT): c.629T> C (p.Leu210Pro)single nucleotide variantPathogenicrs121912820GRCh37Chr 10, 50828590: 50828590
8CHATNM_020549.4(CHAT): c.1493C> T (p.Ser498Leu)single nucleotide variantPathogenicrs121912821GRCh37Chr 10, 50857664: 50857664
9CHATNM_020549.4(CHAT): c.914T> C (p.Ile305Thr)single nucleotide variantPathogenicrs75466054GRCh37Chr 10, 50833680: 50833680
10CHATNM_020549.4(CHAT): c.1258C> T (p.Arg420Cys)single nucleotide variantPathogenicrs121912822GRCh37Chr 10, 50854697: 50854697
11CHATNM_020549.4(CHAT): c.1007T> C (p.Ile336Thr)single nucleotide variantPathogenicrs121912823GRCh37Chr 10, 50835727: 50835727
12CHATNM_020549.4(CHAT): c.418C> T (p.Gln140Ter)single nucleotide variantPathogenicrs794727516GRCh37Chr 10, 50827801: 50827801

Expression for genes affiliated with Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section
Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 6, Presynaptic.

Pathways for genes affiliated with Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section

GO Terms for genes affiliated with Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section

Sources for Myasthenic Syndrome, Congenital, 6, Presynaptic

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet