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

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

Name: Myasthenic Syndrome, Congenital, 6, Presynaptic 50 68
Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 68 12
Congenital Myasthenic Syndrome Pre-Synaptic Associated with Episodic Apnea 68
Familial Infantile Myasthenia Gravis 2 68
Congenital Myasthenic Syndrome Type 1a 68
Congenital Myasthenic Syndrome Type Ia 68
 
Cms-Ea 68
Cms Ia 68
Cms1a 68
Cmsea 68
Fimg2 68
Cms6 68

Characteristics:

HPO:

62
myasthenic syndrome, congenital, 6, presynaptic:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 254210
MedGen35 C0393929
MeSH37 D020294

Summaries for Myasthenic Syndrome, Congenital, 6, Presynaptic

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UniProtKB/Swiss-Prot:68 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 myasthenic syndrome, congenital, associated with episodic apnea, is related to congenital myasthenic syndrome with episodic apnea and myasthenic syndrome, congenital, 1a, slow-channel, and has symptoms including strabismus, ptosis and ophthalmoparesis. An important gene associated with Myasthenic Syndrome, Congenital, 6, Presynaptic is CHAT (Choline O-Acetyltransferase). Affiliated tissues include testes.

OMIM:50 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

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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
1congenital myasthenic syndrome with episodic apnea11.6
2myasthenic syndrome, congenital, 1a, slow-channel11.3
3congenital myasthenic syndrome10.0

Symptoms for Myasthenic Syndrome, Congenital, 6, Presynaptic

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

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

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Interventional clinical trials:

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

Genetic Tests for Myasthenic Syndrome, Congenital, 6, Presynaptic

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Anatomical Context for Myasthenic Syndrome, Congenital, 6, Presynaptic

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

34
Testes

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

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Publications for Myasthenic Syndrome, Congenital, 6, Presynaptic

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Variations for Myasthenic Syndrome, Congenital, 6, Presynaptic

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

68
id Symbol AA change Variation ID SNP ID
1CHATp.Leu210ProVAR_011666rs28930071
2CHATp.Pro211AlaVAR_011667rs121912815
3CHATp.Ile305ThrVAR_011668rs28929482
4CHATp.Arg420CysVAR_011669rs121912822
5CHATp.Glu441LysVAR_011670rs28930070
6CHATp.Arg482GlyVAR_011671rs28929481
7CHATp.Ser498LeuVAR_011672rs121912821
8CHATp.Val506LeuVAR_011673rs121912817
9CHATp.Arg560HisVAR_011674rs121912819
10CHATp.Ile336ThrVAR_038605rs121912823

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

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

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

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

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Sources for Myasthenic Syndrome, Congenital, 6, Presynaptic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet