CMS6
MCID: MYS055
MIFTS: 35

Myasthenic Syndrome, Congenital, 6, Presynaptic (CMS6) 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
Familial Infantile Myasthenia Gravis 2 11 70
Congenital Myasthenic Syndrome 6 11 13
Familial Infantile Myasthenia 11 68
Fimg2 11 70
Cmsea 11 70
Cms6 11 70
Congenital Myasthenic Syndrome Pre-Synaptic Associated with Episodic Apnea 70
Congenital Presynaptic Myasthenic Syndrome Associated with Episodic Apnea 11
Congenital Myasthenic Syndrome 6, Presynaptic 11
 
Congenital Myasthenic Syndrome Type Ia2 11
Congenital Myasthenic Syndrome Type 1a 70
Congenital Myasthenic Syndrome Type Ia 70
Myasthenia Familial Infantile 27
Cms Ia2 11
Cms Ia 70
Cms1a2 11
Cms-Ea 70
Cms1a 70
Fim 11

Characteristics:

HPO:

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

Classifications:



External Ids:

OMIM52 254210
Disease Ontology11 DOID:0110671
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 myasthenic syndrome, congenital, 1a, slow-channel and congenital myasthenic syndrome with episodic apnea, and has symptoms including respiratory distress, respiratory distress and ophthalmoparesis. An important gene associated with Myasthenic Syndrome, Congenital, 6, Presynaptic is CHAT (Choline O-Acetyltransferase). Affiliated tissues include testes.

Disease Ontology:11 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has material basis in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.

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:

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1myasthenic syndrome, congenital, 1a, slow-channel11.5
2congenital myasthenic syndrome with episodic apnea10.8
3myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects10.6
4myasthenic syndrome, congenital, 15, without tubular aggregates10.6
5myasthenic syndrome, congenital, 7, presynaptic10.6
6myasthenia, congenital, 12, with tubular aggregates10.6
7myasthenic syndrome, congenital, 1b, fast-channel10.6
8myasthenic syndrome, congenital, 3a, slow-channel10.6
9myasthenic syndrome, congenital, 3b, fast-channel10.6
10myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency10.6
11myasthenic syndrome, congenital, 510.6
12myasthenic syndrome, congenital, 1010.6
13myasthenic syndrome, congenital, 14, with tubular aggregates10.6
14myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency10.6
15myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency10.6
16myasthenic syndrome, congenital, 13, with tubular aggregates10.6
17myasthenic syndrome, congenital, 4a, slow-channel10.6
18myasthenic syndrome, congenital, 4b, fast-channel10.6
19myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency10.6
20myasthenic syndrome, congenital, 2a, slow-channel10.6
21myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.6
22myasthenic syndrome, congenital, 1610.6
23myasthenic syndrome, congenital, 1810.6
24lymphoma, small cleaved-cell, diffuse10.0FGFR1, ZMYM2
25siberian tick typhus10.0CHAT, ZMYM2
26dupuytren contracture10.0FGFR1, ZMYM2
27congenital myasthenic syndrome9.9
28conus medullaris neoplasm9.9CHAT, DPAGT1, ZMYM2
29aortic aneurysm, familial thoracic 88.6BBS2, CHAT, CSF1R, DPAGT1, FGFR1, RPA1

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 6, Presynaptic:



Diseases related to myasthenic syndrome, congenital, 6, presynaptic

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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Genetic tests related to Myasthenic Syndrome, Congenital, 6, Presynaptic:

id Genetic test Affiliating Genes
1 Familial Infantile Myasthenia27

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, 523CCinsertionPathogenic
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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Biological processes related to Myasthenic Syndrome, Congenital, 6, Presynaptic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeleton organizationGO:000701010.0ZMYM2, ZMYM3, ZMYM6
2peptidyl-tyrosine phosphorylationGO:00181089.6CSF1R, FGFR1, ZMYM2
3photoreceptor cell maintenanceGO:00454949.6BBS2, TULP1
4regulation of cell morphogenesisGO:00226049.4ZMYM2, ZMYM3, ZMYM6

Molecular functions related to Myasthenic Syndrome, Congenital, 6, Presynaptic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.9ZMYM2, ZMYM3, ZMYM6
2protein tyrosine kinase activityGO:00047139.7CSF1R, FGFR1, ZMYM2
3transmembrane receptor protein tyrosine kinase activityGO:00047149.4CSF1R, FGFR1

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