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 52 70
Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 70 12
Congenital Myasthenic Syndrome Pre-Synaptic Associated with Episodic Apnea 70
Congenital Myasthenic Syndrome Type 1a 70
Familial Infantile Myasthenia Gravis 2 70
Congenital Myasthenic Syndrome Type Ia 70
Familial Infantile Myasthenia 68
 
Cms Ia 70
Cms-Ea 70
Fimg2 70
Cms1a 70
Cmsea 70
Cms6 70

Characteristics:

HPO:

64
myasthenic syndrome, congenital, 6, presynaptic:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 254210
MedGen37 C0393929
MeSH39 D020294

Summaries for Myasthenic Syndrome, Congenital, 6, Presynaptic

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UniProtKB/Swiss-Prot:70 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:52 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 apnea11.4
2myasthenic syndrome, congenital, 1a, slow-channel11.4
3congenital myasthenic syndrome9.9

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 6, Presynaptic

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Symptoms by clinical synopsis from OMIM:

254210

Clinical features from OMIM:

254210

Human phenotypes related to Myasthenic Syndrome, Congenital, 6, Presynaptic:

 64 (show all 18)
id Description HPO Frequency HPO Source Accession
1 strabismus64 HP:0000486
2 ptosis64 HP:0000508
3 ophthalmoparesis64 HP:0000597
4 bulbar palsy64 HP:0001283
5 weak cry64 HP:0001612
6 dysphagia64 HP:0002015
7 poor suck64 HP:0002033
8 respiratory distress64 HP:0002098
9 abnormality of the immune system64 HP:0002715
10 respiratory insufficiency due to muscle weakness64 HP:0002747
11 arthrogryposis multiplex congenita64 HP:0002804
12 apneic episodes precipitated by illness, fatigue, stress64 HP:0002872
13 sudden episodic apnea64 HP:0002882
14 generalized hypotonia due to defect at the neuromuscular junction64 HP:0003397
15 decreased miniature endplate potentials64 HP:0003402
16 emg64 HP:0003403
17 fatigable weakness64 HP:0003473
18 type 2 muscle fiber atrophy64 HP:0003554

UMLS symptoms related to Myasthenic Syndrome, Congenital, 6, Presynaptic:


respiratory distress, ophthalmoparesis

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:

36
Testes

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:

70
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 14)
id Gene Variation Type Significance SNP ID Assembly Location
1CHATCHAT, 2-BP INS, 523CCinsertionPathogenicChr na, -1: -1
2CHATNM_020549.4(CHAT): c.631C> G (p.Pro211Ala)SNVPathogenicrs121912815GRCh37Chr 10, 50828592: 50828592
3CHATNM_020549.4(CHAT): c.1321G> A (p.Glu441Lys)SNVPathogenicrs121912816GRCh37Chr 10, 50856592: 50856592
4CHATNM_020549.4(CHAT): c.1516G> T (p.Val506Leu)SNVPathogenicrs121912817GRCh37Chr 10, 50859934: 50859934
5CHATNM_020549.4(CHAT): c.1444A> G (p.Arg482Gly)SNVPathogenicrs121912818GRCh37Chr 10, 50857615: 50857615
6CHATNM_020549.4(CHAT): c.1679G> A (p.Arg560His)SNVPathogenicrs121912819GRCh37Chr 10, 50863185: 50863185
7CHATNM_020549.4(CHAT): c.629T> C (p.Leu210Pro)SNVPathogenicrs121912820GRCh37Chr 10, 50828590: 50828590
8CHATNM_020549.4(CHAT): c.1493C> T (p.Ser498Leu)SNVPathogenicrs121912821GRCh37Chr 10, 50857664: 50857664
9CHATNM_020549.4(CHAT): c.914T> C (p.Ile305Thr)SNVPathogenicrs75466054GRCh37Chr 10, 50833680: 50833680
10CHATNM_020549.4(CHAT): c.1258C> T (p.Arg420Cys)SNVPathogenicrs121912822GRCh37Chr 10, 50854697: 50854697
11CHATNM_020549.4(CHAT): c.1007T> C (p.Ile336Thr)SNVPathogenicrs121912823GRCh37Chr 10, 50835727: 50835727
12CHATNM_020549.4(CHAT): c.418C> T (p.Gln140Ter)SNVPathogenicrs794727516GRCh37Chr 10, 50827801: 50827801
13CHATNM_020549.4(CHAT): c.85A> T (p.Arg29Ter)SNVPathogenicrs772025588GRCh37Chr 10, 50822320: 50822320
14CHATNM_020984.3(CHAT): c.266G> A (p.Arg89His)SNVPathogenicrs764497513GRCh37Chr 10, 50828581: 50828581

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet