CMS6
MCID: MYS055
MIFTS: 47

Myasthenic Syndrome, Congenital, 6, Presynaptic (CMS6)

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

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

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 6, Presynaptic:

Name: Myasthenic Syndrome, Congenital, 6, Presynaptic 57 73
Familial Infantile Myasthenia 12 29 6 71
Cmsea 57 12 73
Cms6 57 12 73
Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 73 13
Familial Infantile Myasthenia Gravis 2 12 73
Congenital Myasthenic Syndrome 6 12 15
Fimg2 12 73
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea; Cmsea 57
Myasthenic Syndrome, Presynaptic, Congenital, Associated with Episodic Apnea 57
Congenital Myasthenic Syndrome Pre-Synaptic Associated with Episodic Apnea 73
Congenital Presynaptic Myasthenic Syndrome Associated with Episodic Apnea 12
Congenital Myasthenic Syndrome Type Ia2, Formerly; Cms1a2, Formerly 57
Myasthenia Gravis, Familial Infantile, 2, Formerly; Fimg2, Formerly 57
Myasthenia, Familial Infantile, Formerly; Fim, Formerly 57
Myasthenic Syndrome, Congenital, Type 6, Presynaptic 39
Myasthenia Gravis, Familial Infantile, 2, Formerly 57
Congenital Myasthenic Syndrome Type Ia2, Formerly 57
Congenital Myasthenic Syndrome 6, Presynaptic 12
Myasthenia, Familial Infantile, Formerly 57
Congenital Myasthenic Syndrome Type Ia2 12
Congenital Myasthenic Syndrome Type 1a 73
Congenital Myasthenic Syndrome Type Ia 73
Cms Ia2, Formerly 57
Cms1a2, Formerly 57
Fimg2, Formerly 57
Fim, Formerly 57
Cms Ia2 12
Cms1a2 12
Cms-Ea 73
Cms Ia 73
Cms1a 73
Fim 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or early childhood
favorable response to acetylcholinesterase inhibitors
symptoms often improve gradually with age
genetic heterogeneity (see cms1a1, )


HPO:

31
myasthenic syndrome, congenital, 6, presynaptic:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110671
OMIM® 57 254210
OMIM Phenotypic Series 57 PS601462
MeSH 44 D020294
MedGen 41 C0393929
UMLS 71 C0393929

Summaries for Myasthenic Syndrome, Congenital, 6, Presynaptic

UniProtKB/Swiss-Prot : 73 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 familial infantile myasthenia, is related to congenital myasthenic syndrome with episodic apnea and fallopian tube carcinoma, and has symptoms including apnea, ophthalmoparesis and respiratory distress. An important gene associated with Myasthenic Syndrome, Congenital, 6, Presynaptic is CHAT (Choline O-Acetyltransferase), and among its related pathways/superpathways are DNA Damage and BRCA1 Pathway. Related phenotypes are ptosis and dysphagia

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® : 57 Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (254210) (Updated 05-Mar-2021)

Related Diseases for Myasthenic Syndrome, Congenital, 6, Presynaptic

Diseases in the Presynaptic Congenital Myasthenic Syndromes family:

Myasthenic Syndrome, Congenital, 6, Presynaptic Myasthenic Syndrome, Congenital, 7, Presynaptic
Myasthenic Syndrome, Congenital, 20, Presynaptic Myasthenic Syndrome, Congenital, 21, Presynaptic
Myasthenic Syndrome, Congenital, 23, Presynaptic Myasthenic Syndrome, Congenital, 24, Presynaptic
Myasthenic Syndrome, Congenital, 25, Presynaptic

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

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 congenital myasthenic syndrome with episodic apnea 33.2 LOC107303340 CHAT
2 fallopian tube carcinoma 30.0 TP53 BRCA2 BRCA1
3 congenital myasthenic syndrome 28.5 ZMYM2 UPK1A TP53 TBC1D24 STRADB STC1
4 myasthenic syndrome, congenital, 1a, slow-channel 11.4
5 myasthenic syndrome, congenital, 10 10.8
6 myasthenic syndrome, congenital, 5 10.8
7 myasthenic syndrome, congenital, 4a, slow-channel 10.8
8 myasthenic syndrome, congenital, 1b, fast-channel 10.8
9 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.8
10 myasthenic syndrome, congenital, 12 10.8
11 myasthenic syndrome, congenital, 16 10.8
12 myasthenic syndrome, congenital, 13 10.8
13 myasthenic syndrome, congenital, 8 10.8
14 muscular dystrophy-dystroglycanopathy , type c, 14 10.8
15 myasthenic syndrome, congenital, 7, presynaptic 10.8
16 myasthenic syndrome, congenital, 15 10.8
17 myasthenic syndrome, congenital, 14 10.8
18 myasthenic syndrome, congenital, 2a, slow-channel 10.8
19 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 10.8
20 myasthenic syndrome, congenital, 3a, slow-channel 10.8
21 myasthenic syndrome, congenital, 3b, fast-channel 10.8
22 myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency 10.8
23 myasthenic syndrome, congenital, 4b, fast-channel 10.8
24 myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 10.8
25 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 10.8
26 myasthenic syndrome, congenital, 18 10.8
27 myasthenic syndrome, congenital, 19 10.8
28 myasthenic syndrome, congenital, 20, presynaptic 10.8
29 myasthenic syndrome, congenital, 25, presynaptic 10.8
30 fallopian tube clear cell adenocarcinoma 10.4 BRCA2 BRCA1
31 myoclonic epilepsy, familial infantile 10.4
32 cancerophobia 10.4 BRCA2 BRCA1
33 ovary transitional cell carcinoma 10.4 BRCA2 BRCA1
34 pyelitis 10.4 UPK1A STRADB PAPOLG
35 nosophobia 10.4 BRCA2 BRCA1
36 familial ovarian cancer 10.4 BRCA2 BRCA1
37 hereditary site-specific ovarian cancer syndrome 10.4 BRCA2 BRCA1
38 tetraploidy 10.4 BRCA2 BRCA1
39 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.3 BRCA2 BRCA1
40 spinal cord injury 10.3
41 fanconi anemia, complementation group d1 10.3 ERCC6 BRCA2 BRCA1
42 breast-ovarian cancer, familial 2 10.3 BRCA2 BRCA1
43 fanconi anemia, complementation group j 10.3 ERCC6 BRCA2 BRCA1
44 parotid gland cancer 10.3 TP53 SERPINB6
45 ovarian serous adenofibroma 10.3 TP53 BRCA1
46 basaloid lung carcinoma 10.3 TP53 BRCA2 BRCA1
47 cervical adenoma malignum 10.3 TP53 BRCA2 BRCA1
48 synchronous bilateral breast carcinoma 10.3 TP53 BRCA2 BRCA1
49 mutagen sensitivity 10.3 TP53 BRCA2 BRCA1
50 primary peritoneal carcinoma 10.3 TP53 BRCA2 BRCA1

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

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

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 dysphagia 31 HP:0002015
3 strabismus 31 HP:0000486
4 respiratory insufficiency due to muscle weakness 31 HP:0002747
5 abnormality of the immune system 31 HP:0002715
6 ophthalmoparesis 31 HP:0000597
7 arthrogryposis multiplex congenita 31 HP:0002804
8 weak cry 31 HP:0001612
9 respiratory distress 31 HP:0002098
10 poor suck 31 HP:0002033
11 fatigable weakness 31 HP:0003473
12 bulbar palsy 31 HP:0001283
13 type 2 muscle fiber atrophy 31 HP:0003554
14 sudden episodic apnea 31 HP:0002882
15 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 31 HP:0003403
16 apneic episodes precipitated by illness, fatigue, stress 31 HP:0002872
17 decreased miniature endplate potentials 31 HP:0003402
18 generalized hypotonia due to defect at the neuromuscular junction 31 HP:0003397

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
strabismus
ophthalmoparesis

Respiratory:
respiratory insufficiency due to muscle weakness
respiratory distress
apneic episodes precipitated by illness, fatigue, stress
sudden episodic apnea, severe, may cause death

Neurologic Peripheral Nervous System:
generalized hypotonia due to defect at the neuromuscular junction
bulbar muscle weakness
mild-moderate fatigable weakness of limb muscles
emg shows decremental response of compound muscle action potential (cmap) to repetitive nerve stimulation
decreased miniature endplate potentials (mepp)
more
Skeletal:
arthrogryposis multiplex in severe cases

Abdomen Gastrointestinal:
dysphagia
poor suck
poor feeding due to muscle weakness

Voice:
weak cry

Muscle Soft Tissue:
muscle biopsy shows type 2 fiber atrophy

Immunology:
absence of acetylcholine receptor (achr) autoantibodies

Clinical features from OMIM®:

254210 (Updated 05-Mar-2021)

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


apnea, ophthalmoparesis, respiratory distress

MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, 6, Presynaptic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.77 ANGPTL6 BRCA1 BRCA2 BRSK2 CHAT ERCC6
2 normal MP:0002873 9.28 BRCA1 BRCA2 BRSK2 CHAT IREB2 SERPINB6

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:

# Genetic test Affiliating Genes
1 Familial Infantile Myasthenia 29 CHAT

Anatomical Context for Myasthenic Syndrome, Congenital, 6, Presynaptic

Publications for Myasthenic Syndrome, Congenital, 6, Presynaptic

Articles related to Myasthenic Syndrome, Congenital, 6, Presynaptic:

(show all 25)
# Title Authors PMID Year
1
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. 6 57
12756141 2003
2
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. 57 6
11172068 2001
3
Familial infantile myasthenia: a neuromuscular cause of respiratory failure. 61 57
7954508 1994
4
Synaptic vesicle abnormality in familial infantile myasthenia. 57 61
3027611 1987
5
Familial infantile myasthenia gravis. Report of three cases with follow-up until adult life. 57 61
3977641 1985
6
Familial infantile myasthenia. 61 57
6243929 1980
7
Familial infantile myasthenia gravis: a cause of sudden death in young children. 57 61
1165526 1975
8
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 57
25792100 2015
9
The natural history and ophthalmic involvement in childhood myasthenia gravis at the hospital for sick children. 57
10711889 2000
10
Morphologic and immunopathologic findings in myasthenia gravis and in congenital myasthenic syndromes. 57
6249893 1980
11
Arthrogryposis multiplex congenita due to congenital myasthenia. 57
6446471 1980
12
Clinical syndromes of myasthenia in infancy and childhood. A review. 57
341864 1978
13
Familial early infantile myasthenia gravis with a 15-year follow-up. 57
5807291 1969
14
Myasthenia gravis in the newborn. 57
13851666 1960
15
External ophthalmoplegia; as part of congenital myasthenia in siblings: myasthenia gravis in children: report of a family showing congenital myasthenia. 57
13649840 1959
16
Familial early infantile myasthenia gravis. 57
13104152 1953
17
[Congenital myasthenic syndromes. Clinical and electromyographic evaluation]. 61
11792263 2002
18
Presynaptic congenital myasthenic syndrome due to quantal release deficiency. 61
11468313 2001
19
Familial infantile myasthenia: confusion in terminology. 61
10382904 1999
20
Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes. 61
9813454 1998
21
Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. 61
9097970 1997
22
Genes at the junction--candidates for congenital myasthenic syndromes. 61
9004414 1997
23
Familial infantile myasthenia: a diagnostic problem. 61
1743419 1991
24
[Familial infantile myasthenia gravis]. 61
1937195 1991
25
Familial infantile myasthenia gravis: a preventable cause of sudden death. 61
3975717 1985

Variations for Myasthenic Syndrome, Congenital, 6, Presynaptic

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

6 (show top 50) (show all 194)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CHAT CHAT, 2-BP INS, 523CC Insertion Pathogenic 17505
2 CHAT NM_020549.4(CHAT):c.1516G>T (p.Val506Leu) SNV Pathogenic 17508 rs121912817 10:50859934-50859934 10:49651888-49651888
3 CHAT NM_020549.4(CHAT):c.629T>C (p.Leu210Pro) SNV Pathogenic 17511 rs121912820 10:50828590-50828590 10:49620544-49620544
4 CHAT NM_020549.4(CHAT):c.1493C>T (p.Ser498Leu) SNV Pathogenic 17512 rs121912821 10:50857664-50857664 10:49649618-49649618
5 CHAT NM_020549.4(CHAT):c.1258C>T (p.Arg420Cys) SNV Pathogenic 17514 rs121912822 10:50854697-50854697 10:49646651-49646651
6 CHAT NM_020549.4(CHAT):c.669del (p.Gln223fs) Deletion Pathogenic 461462 rs1554802808 10:50828630-50828630 10:49620584-49620584
7 CHAT NM_020549.4(CHAT):c.1642C>T (p.Arg548Ter) SNV Pathogenic 461449 rs369251527 10:50863148-50863148 10:49655102-49655102
8 CHAT NM_020549.4(CHAT):c.631C>G (p.Pro211Ala) SNV Pathogenic 17506 rs121912815 10:50828592-50828592 10:49620546-49620546
9 CHAT NM_020549.4(CHAT):c.476_477delinsAG (p.Phe159Ter) Indel Pathogenic 858247 10:50827859-50827860 10:49619813-49619814
10 CHAT NM_020549.5(CHAT):c.522_523dup (p.Leu175fs) Duplication Pathogenic 957139 10:50827904-50827905 10:49619858-49619859
11 CHAT NC_000010.11:g.(?_49614170)_(49665066_?)del Deletion Pathogenic 657906 10:50822216-50873112 10:49614170-49665066
12 CHAT NM_020549.5(CHAT):c.1007T>C SNV Pathogenic 17515 rs121912823 10:50835727-50835727 10:49627681-49627681
13 LOC107303340 NM_000551.4(VHL):c.481C>T (p.Arg161Ter) SNV Pathogenic 2217 rs5030818 3:10191488-10191488 3:10149804-10149804
14 CHAT NM_020549.4(CHAT):c.914T>C (p.Ile305Thr) SNV Pathogenic 17513 rs75466054 10:50833680-50833680 10:49625634-49625634
15 CHAT NM_020549.4(CHAT):c.1669G>A (p.Ala557Thr) SNV Pathogenic 461452 rs372760913 10:50863175-50863175 10:49655129-49655129
16 CHAT NM_020549.4(CHAT):c.406G>A (p.Val136Met) SNV Pathogenic 279754 rs201479289 10:50827789-50827789 10:49619743-49619743
17 CHAT NM_020549.4(CHAT):c.635T>A (p.Val212Asp) SNV Likely pathogenic 434757 rs1554802792 10:50828596-50828596 10:49620550-49620550
18 CHAT NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp) SNV Likely pathogenic 958997 10:50863221-50863221 10:49655175-49655175
19 CHAT NM_020549.4(CHAT):c.1254del (p.Asn419fs) Deletion Likely pathogenic 547966 rs1272947184 10:50854692-50854692 10:49646646-49646646
20 CHAT NM_020549.4(CHAT):c.620G>A (p.Arg207His) SNV Conflicting interpretations of pathogenicity 289944 rs764497513 10:50828581-50828581 10:49620535-49620535
21 CHAT NM_020549.5(CHAT):c.511_512delinsAA (p.Ala171Asn) Indel Uncertain significance 949442 10:50827894-50827895 10:49619848-49619849
22 CHAT NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del) Microsatellite Uncertain significance 648773 rs750942168 10:50872950-50872952 10:49664904-49664906
23 CHAT NM_020549.5(CHAT):c.910G>A (p.Val304Ile) SNV Uncertain significance 978543 10:50833676-50833676 10:49625630-49625630
24 CHAT NM_020549.4(CHAT):c.1651G>C (p.Val551Leu) SNV Uncertain significance 566556 rs1564493573 10:50863157-50863157 10:49655111-49655111
25 CHAT NM_020549.4(CHAT):c.920C>G (p.Ala307Gly) SNV Uncertain significance 572595 rs748250869 10:50833686-50833686 10:49625640-49625640
26 CHAT NM_020549.4(CHAT):c.206C>A (p.Pro69His) SNV Uncertain significance 573329 rs1283840204 10:50822441-50822441 10:49614395-49614395
27 CHAT NM_020549.4(CHAT):c.1345G>A (p.Val449Ile) SNV Uncertain significance 574690 rs757733319 10:50856616-50856616 10:49648570-49648570
28 CHAT NM_020549.4(CHAT):c.2004C>G (p.Cys668Trp) SNV Uncertain significance 576439 rs1156904329 10:50872849-50872849 10:49664803-49664803
29 CHAT NM_020549.4(CHAT):c.619C>T (p.Arg207Cys) SNV Uncertain significance 577871 rs760936252 10:50828580-50828580 10:49620534-49620534
30 CHAT NM_020549.4(CHAT):c.275C>G (p.Pro92Arg) SNV Uncertain significance 582350 rs372298555 10:50822510-50822510 10:49614464-49614464
31 CHAT NM_020549.4(CHAT):c.769G>A (p.Asp257Asn) SNV Uncertain significance 582816 rs1564475567 10:50833535-50833535 10:49625489-49625489
32 CHAT NM_020549.4(CHAT):c.1814G>A (p.Arg605His) SNV Uncertain significance 582848 rs199926163 10:50863469-50863469 10:49655423-49655423
33 CHAT NM_020549.4(CHAT):c.316C>T (p.Leu106Phe) SNV Uncertain significance 461458 rs776042082 10:50824577-50824577 10:49616531-49616531
34 CHAT NM_020549.4(CHAT):c.326C>T (p.Thr109Met) SNV Uncertain significance 461459 rs542610160 10:50824587-50824587 10:49616541-49616541
35 CHAT NM_020549.4(CHAT):c.1466C>T (p.Pro489Leu) SNV Uncertain significance 461448 rs764921945 10:50857637-50857637 10:49649591-49649591
36 CHAT NM_020549.4(CHAT):c.1769C>T (p.Ala590Val) SNV Uncertain significance 530658 rs1313042835 10:50863275-50863275 10:49655229-49655229
37 CHAT NM_020549.4(CHAT):c.1511+5G>A SNV Uncertain significance 530659 rs371888779 10:50857687-50857687 10:49649641-49649641
38 CHAT NM_020549.4(CHAT):c.1174G>A (p.Ala392Thr) SNV Uncertain significance 573824 rs115877658 10:50854613-50854613 10:49646567-49646567
39 CHAT NM_020549.4(CHAT):c.1977+4C>T SNV Uncertain significance 642200 rs200116201 10:50870832-50870832 10:49662786-49662786
40 CHAT NM_020549.4(CHAT):c.146dup (p.Gly50fs) Duplication Uncertain significance 848380 10:50822379-50822380 10:49614333-49614334
41 CHAT NM_020549.5(CHAT):c.1613C>T (p.Ala538Val) SNV Uncertain significance 959987 10:50860031-50860031 10:49651985-49651985
42 CHAT NM_020549.5(CHAT):c.221C>T (p.Thr74Ile) SNV Uncertain significance 960118 10:50822456-50822456 10:49614410-49614410
43 CHAT NM_020549.5(CHAT):c.1267G>A (p.Asp423Asn) SNV Uncertain significance 961538 10:50854706-50854706 10:49646660-49646660
44 CHAT NM_020549.5(CHAT):c.1286T>C (p.Val429Ala) SNV Uncertain significance 964216 10:50856557-50856557 10:49648511-49648511
45 CHAT NM_020549.5(CHAT):c.452G>A (p.Arg151Gln) SNV Uncertain significance 969440 10:50827835-50827835 10:49619789-49619789
46 CHAT NM_020549.4(CHAT):c.1009G>C (p.Val337Leu) SNV Uncertain significance 461443 rs1462079971 10:50835729-50835729 10:49627683-49627683
47 CHAT NM_020549.5(CHAT):c.1784A>T (p.Glu595Val) SNV Uncertain significance 935150 10:50863439-50863439 10:49655393-49655393
48 CHAT NM_020549.5(CHAT):c.35G>A (p.Gly12Glu) SNV Uncertain significance 935529 10:50822270-50822270 10:49614224-49614224
49 CHAT NM_020549.5(CHAT):c.92T>A (p.Val31Glu) SNV Uncertain significance 935587 10:50822327-50822327 10:49614281-49614281
50 CHAT NM_020549.5(CHAT):c.94C>T (p.Arg32Trp) SNV Uncertain significance 937531 10:50822329-50822329 10:49614283-49614283

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

73
# Symbol AA change Variation ID SNP ID
1 CHAT p.Leu210Pro VAR_011666 rs121912820
2 CHAT p.Pro211Ala VAR_011667 rs121912815
3 CHAT p.Ile305Thr VAR_011668 rs75466054
4 CHAT p.Arg420Cys VAR_011669 rs121912822
5 CHAT p.Glu441Lys VAR_011670 rs121912816
6 CHAT p.Arg482Gly VAR_011671 rs121912818
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

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

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

# Super pathways Score Top Affiliating Genes
1 11.93 TP53 BRSK2 BRCA2 BRCA1
2
Show member pathways
11.05 TP53 BRCA2 BRCA1
3 10.54 TP53 BRCA1
4 10.42 TP53 STRADB BRSK2

GO Terms for Myasthenic Syndrome, Congenital, 6, Presynaptic

Cellular components related to Myasthenic Syndrome, Congenital, 6, Presynaptic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 9.26 TP53 PAPOLG ERCC6 BRCA1
2 lateral element GO:0000800 8.62 BRCA2 BRCA1

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

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.8 TP53 STRADB BRSK2 BRCA2 BRCA1
2 double-strand break repair GO:0006302 9.54 TP53 BRCA2 BRCA1
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.43 ERCC6 BRCA2 BRCA1
4 response to gamma radiation GO:0010332 9.33 TP53 ERCC6 BRCA2
5 chordate embryonic development GO:0043009 9.32 BRCA2 BRCA1
6 response to X-ray GO:0010165 9.13 TP53 ERCC6 BRCA2
7 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.8 TP53 BRCA2 BRCA1

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.8 TP53 SERPINB6 BRCA2

Sources for Myasthenic Syndrome, Congenital, 6, Presynaptic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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