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

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

Name: Myasthenic Syndrome, Congenital, 6, Presynaptic 54 66
Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 66 13
Familial Infantile Myasthenia Gravis 2 12 66
Congenital Myasthenic Syndrome 6 12 14
Familial Infantile Myasthenia 12 69
Cmsea 12 66
Fimg2 12 66
Cms6 12 66
Congenital Myasthenic Syndrome Pre-Synaptic Associated with Episodic Apnea 66
Congenital Presynaptic Myasthenic Syndrome Associated with Episodic Apnea 12
Congenital Myasthenic Syndrome 6, Presynaptic 12
Congenital Myasthenic Syndrome Type Ia2 12
Congenital Myasthenic Syndrome Type 1a 66
Congenital Myasthenic Syndrome Type Ia 66
Myasthenia Familial Infantile 29
Cms Ia2 12
Cms1a2 12
Cms-Ea 66
Cms Ia 66
Cms1a 66
Fim 12

Characteristics:

HPO:

32
myasthenic syndrome, congenital, 6, presynaptic:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 54 254210
Disease Ontology 12 DOID:0110671
MedGen 40 C0393929
MeSH 42 D020294

Summaries for Myasthenic Syndrome, Congenital, 6, Presynaptic

UniProtKB/Swiss-Prot : 66 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, ophthalmoparesis and ptosis. An important gene associated with Myasthenic Syndrome, Congenital, 6, Presynaptic is CHAT (Choline O-Acetyltransferase). Affiliated tissues include testes.

Disease Ontology : 12 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 : 54 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

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)
id Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 1a, slow-channel 11.5
2 congenital myasthenic syndrome with episodic apnea 10.8
3 myasthenic syndrome, congenital, 14, with tubular aggregates 10.6
4 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 10.6
5 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 10.6
6 myasthenic syndrome, congenital, 13, with tubular aggregates 10.6
7 myasthenic syndrome, congenital, 4a, slow-channel 10.6
8 myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects 10.6
9 myasthenic syndrome, congenital, 4b, fast-channel 10.6
10 myasthenic syndrome, congenital, 15, without tubular aggregates 10.6
11 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.6
12 myasthenic syndrome, congenital, 7, presynaptic 10.6
13 myasthenic syndrome, congenital, 2a, slow-channel 10.6
14 myasthenia, congenital, 12, with tubular aggregates 10.6
15 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 10.6
16 myasthenic syndrome, congenital, 16 10.6
17 myasthenic syndrome, congenital, 1b, fast-channel 10.6
18 myasthenic syndrome, congenital, 18 10.6
19 myasthenic syndrome, congenital, 3a, slow-channel 10.6
20 myasthenic syndrome, congenital, 3b, fast-channel 10.6
21 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency 10.6
22 myasthenic syndrome, congenital, 5 10.6
23 myasthenic syndrome, congenital, 10 10.6
24 lymphoma, small cleaved-cell, diffuse 10.0 FGFR1 ZMYM2
25 siberian tick typhus 10.0 CHAT ZMYM2
26 dupuytren contracture 10.0 FGFR1 ZMYM2
27 congenital myasthenic syndrome 9.9
28 conus medullaris neoplasm 9.9 CHAT DPAGT1 ZMYM2
29 aortic aneurysm, familial thoracic 8 8.6 BBS2 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

Symptoms by clinical synopsis from OMIM:

254210

Clinical features from OMIM:

254210

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

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 respiratory distress 32 HP:0002098
2 ophthalmoparesis 32 HP:0000597
3 ptosis 32 HP:0000508
4 dysphagia 32 HP:0002015
5 respiratory insufficiency due to muscle weakness 32 HP:0002747
6 strabismus 32 HP:0000486
7 arthrogryposis multiplex congenita 32 HP:0002804
8 abnormality of the immune system 32 HP:0002715
9 weak cry 32 HP:0001612
10 fatigable weakness 32 HP:0003473
11 poor suck 32 HP:0002033
12 bulbar palsy 32 HP:0001283
13 emg 32 HP:0003403
14 type 2 muscle fiber atrophy 32 HP:0003554
15 apneic episodes precipitated by illness, fatigue, stress 32 HP:0002872
16 sudden episodic apnea 32 HP:0002882
17 generalized hypotonia due to defect at the neuromuscular junction 32 HP:0003397
18 decreased miniature endplate potentials 32 HP:0003402

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


respiratory distress, ophthalmoparesis

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

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

Genetic Tests for Myasthenic Syndrome, Congenital, 6, Presynaptic

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

id Genetic test Affiliating Genes
1 Familial Infantile Myasthenia 29

Anatomical Context for Myasthenic Syndrome, Congenital, 6, Presynaptic

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

39
Testes

Publications for Myasthenic Syndrome, Congenital, 6, Presynaptic

Variations for Myasthenic Syndrome, Congenital, 6, Presynaptic

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

66
id Symbol AA change Variation ID SNP ID
1 CHAT p.Leu210Pro VAR_011666 rs28930071
2 CHAT p.Pro211Ala VAR_011667 rs121912815
3 CHAT p.Ile305Thr VAR_011668 rs28929482
4 CHAT p.Arg420Cys VAR_011669 rs121912822
5 CHAT p.Glu441Lys VAR_011670 rs28930070
6 CHAT p.Arg482Gly VAR_011671 rs28929481
7 CHAT p.Ser498Leu VAR_011672 rs121912821
8 CHAT p.Val506Leu VAR_011673 rs121912817
9 CHAT p.Arg560His VAR_011674 rs121912819
10 CHAT p.Ile336Thr VAR_038605 rs121912823

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

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 CHAT CHAT, 2-BP INS, 523CC insertion Pathogenic
2 CHAT NM_020549.4(CHAT): c.631C> G (p.Pro211Ala) single nucleotide variant Pathogenic rs121912815 GRCh37 Chromosome 10, 50828592: 50828592
3 CHAT NM_020549.4(CHAT): c.1321G> A (p.Glu441Lys) single nucleotide variant Pathogenic rs121912816 GRCh37 Chromosome 10, 50856592: 50856592
4 CHAT NM_020549.4(CHAT): c.1516G> T (p.Val506Leu) single nucleotide variant Pathogenic rs121912817 GRCh37 Chromosome 10, 50859934: 50859934
5 CHAT NM_020549.4(CHAT): c.1444A> G (p.Arg482Gly) single nucleotide variant Pathogenic rs121912818 GRCh37 Chromosome 10, 50857615: 50857615
6 CHAT NM_020549.4(CHAT): c.1679G> A (p.Arg560His) single nucleotide variant Pathogenic rs121912819 GRCh37 Chromosome 10, 50863185: 50863185
7 CHAT NM_020549.4(CHAT): c.629T> C (p.Leu210Pro) single nucleotide variant Pathogenic rs121912820 GRCh37 Chromosome 10, 50828590: 50828590
8 CHAT NM_020549.4(CHAT): c.1493C> T (p.Ser498Leu) single nucleotide variant Pathogenic rs121912821 GRCh37 Chromosome 10, 50857664: 50857664
9 CHAT NM_020549.4(CHAT): c.914T> C (p.Ile305Thr) single nucleotide variant Pathogenic rs75466054 GRCh37 Chromosome 10, 50833680: 50833680
10 CHAT NM_020549.4(CHAT): c.1258C> T (p.Arg420Cys) single nucleotide variant Pathogenic rs121912822 GRCh37 Chromosome 10, 50854697: 50854697
11 CHAT NM_020549.4(CHAT): c.1007T> C (p.Ile336Thr) single nucleotide variant Pathogenic rs121912823 GRCh37 Chromosome 10, 50835727: 50835727
12 CHAT NM_020549.4(CHAT): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs794727516 GRCh37 Chromosome 10, 50827801: 50827801
13 CHAT NM_020549.4(CHAT): c.85A> T (p.Arg29Ter) single nucleotide variant Pathogenic rs772025588 GRCh37 Chromosome 10, 50822320: 50822320
14 CHAT NM_020984.3(CHAT): c.266G> A (p.Arg89His) single nucleotide variant Pathogenic rs764497513 GRCh37 Chromosome 10, 50828581: 50828581

Expression for Myasthenic Syndrome, Congenital, 6, Presynaptic

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

Pathways for Myasthenic Syndrome, Congenital, 6, Presynaptic

GO Terms for Myasthenic Syndrome, Congenital, 6, Presynaptic

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

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.33 ZMYM2 ZMYM3 ZMYM6
2 photoreceptor cell maintenance GO:0045494 9.26 BBS2 TULP1
3 peptidyl-tyrosine phosphorylation GO:0018108 9.13 CSF1R FGFR1 ZMYM2
4 regulation of cell morphogenesis GO:0022604 8.8 ZMYM2 ZMYM3 ZMYM6

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

id Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.16 CSF1R FGFR1
2 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.13 ZMYM2 ZMYM3 ZMYM6
3 protein tyrosine kinase activity GO:0004713 8.8 CSF1R FGFR1 ZMYM2

Sources for Myasthenic Syndrome, Congenital, 6, Presynaptic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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