CMS6
MCID: MYS055
MIFTS: 49

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 72
Familial Infantile Myasthenia 12 29 6 70
Cmsea 57 12 72
Cms6 57 12 72
Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 72 13
Familial Infantile Myasthenia Gravis 2 12 72
Congenital Myasthenic Syndrome 6 12 15
Fimg2 12 72
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 72
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 72
Congenital Myasthenic Syndrome Type Ia 72
Cms Ia2, Formerly 57
Cms1a2, Formerly 57
Fimg2, Formerly 57
Fim, Formerly 57
Cms Ia2 12
Cms1a2 12
Cms-Ea 72
Cms Ia 72
Cms1a 72
Fim 12

Characteristics:

OMIM®:

57 (Updated 20-May-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 70 C0393929

Summaries for Myasthenic Syndrome, Congenital, 6, Presynaptic

UniProtKB/Swiss-Prot : 72 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. Affiliated tissues include eye, breast and ovary, and 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 20-May-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 170)
# Related Disease Score Top Affiliating Genes
1 congenital myasthenic syndrome with episodic apnea 33.2 VHL LOC107303340 CHAT
2 fallopian tube carcinoma 30.2 TP53 BRCA2 BRCA1
3 congenital myasthenic syndrome 29.2 ZMYM2 VHL UPK1A TP53 TBC1D24 STRADB
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 endolymphatic sac tumor 10.5 VHL LOC107303340
31 fallopian tube clear cell adenocarcinoma 10.4 BRCA2 BRCA1
32 angiomatosis 10.4 VHL LOC107303340
33 ovary transitional cell carcinoma 10.4 BRCA2 BRCA1
34 pyelitis 10.4 UPK1A STRADB PAPOLG
35 cancerophobia 10.4 BRCA2 BRCA1
36 nosophobia 10.4 BRCA2 BRCA1
37 tetraploidy 10.4 BRCA2 BRCA1
38 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.4 BRCA2 BRCA1
39 ruvalcaba syndrome 10.4 BRCA2 BRCA1
40 cerebellar angioblastoma 10.4 VHL LOC107303340
41 hereditary site-specific ovarian cancer syndrome 10.4 BRCA2 BRCA1
42 myoclonic epilepsy, familial infantile 10.4
43 fanconi anemia, complementation group d1 10.4 ERCC6 BRCA2 BRCA1
44 fanconi anemia, complementation group j 10.4 ERCC6 BRCA2 BRCA1
45 basaloid lung carcinoma 10.4 TP53 BRCA2 BRCA1
46 cervical adenoma malignum 10.4 TP53 BRCA2 BRCA1
47 mutagen sensitivity 10.4 TP53 BRCA2 BRCA1
48 breast-ovarian cancer, familial 2 10.4 BRCA2 BRCA1
49 primary peritoneal carcinoma 10.4 TP53 BRCA2 BRCA1
50 synchronous bilateral breast carcinoma 10.4 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 20-May-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 20-May-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 9.8 ANGPTL6 BRCA1 BRCA2 BRSK2 CHAT ERCC6
2 normal MP:0002873 9.28 BRCA1 BRCA2 BRSK2 CHAT IREB2 SPI1

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

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

40
Eye, Breast, Ovary, Brain, Spinal Cord, Lung

Publications for Myasthenic Syndrome, Congenital, 6, Presynaptic

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

(show all 30)
# 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. 6 57
11172068 2001
3
Familial infantile myasthenia: a neuromuscular cause of respiratory failure. 61 57
7954508 1994
4
Synaptic vesicle abnormality in familial infantile myasthenia. 61 57
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. 57 61
6243929 1980
7
Familial infantile myasthenia gravis: a cause of sudden death in young children. 57 61
1165526 1975
8
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients. 6
29189923 2018
9
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine. 6
28497657 2017
10
Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations. 6
26080897 2015
11
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 57
25792100 2015
12
Functional consequences and structural interpretation of mutations of human choline acetyltransferase. 6
21786365 2011
13
Congenital myasthenic syndrome with episodic apnea. 6
19520274 2009
14
The natural history and ophthalmic involvement in childhood myasthenia gravis at the hospital for sick children. 57
10711889 2000
15
Morphologic and immunopathologic findings in myasthenia gravis and in congenital myasthenic syndromes. 57
6249893 1980
16
Arthrogryposis multiplex congenita due to congenital myasthenia. 57
6446471 1980
17
Clinical syndromes of myasthenia in infancy and childhood. A review. 57
341864 1978
18
Familial early infantile myasthenia gravis with a 15-year follow-up. 57
5807291 1969
19
Myasthenia gravis in the newborn. 57
13851666 1960
20
External ophthalmoplegia; as part of congenital myasthenia in siblings: myasthenia gravis in children: report of a family showing congenital myasthenia. 57
13649840 1959
21
Familial early infantile myasthenia gravis. 57
13104152 1953
22
[Congenital myasthenic syndromes. Clinical and electromyographic evaluation]. 61
11792263 2002
23
Presynaptic congenital myasthenic syndrome due to quantal release deficiency. 61
11468313 2001
24
Familial infantile myasthenia: confusion in terminology. 61
10382904 1999
25
Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes. 61
9813454 1998
26
Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. 61
9097970 1997
27
Genes at the junction--candidates for congenital myasthenic syndromes. 61
9004414 1997
28
Familial infantile myasthenia: a diagnostic problem. 61
1743419 1991
29
[Familial infantile myasthenia gravis]. 61
1937195 1991
30
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 231)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHAT CHAT, 2-BP INS, 523CC Insertion Pathogenic 17505 GRCh37:
GRCh38:
2 CHAT NM_020549.4(CHAT):c.1516G>T (p.Val506Leu) SNV Pathogenic 17508 rs121912817 GRCh37: 10:50859934-50859934
GRCh38: 10:49651888-49651888
3 CHAT NM_020549.4(CHAT):c.629T>C (p.Leu210Pro) SNV Pathogenic 17511 rs121912820 GRCh37: 10:50828590-50828590
GRCh38: 10:49620544-49620544
4 CHAT NM_020549.4(CHAT):c.1493C>T (p.Ser498Leu) SNV Pathogenic 17512 rs121912821 GRCh37: 10:50857664-50857664
GRCh38: 10:49649618-49649618
5 CHAT NM_020549.4(CHAT):c.1258C>T (p.Arg420Cys) SNV Pathogenic 17514 rs121912822 GRCh37: 10:50854697-50854697
GRCh38: 10:49646651-49646651
6 CHAT NM_020549.4(CHAT):c.669del (p.Gln223fs) Deletion Pathogenic 461462 rs1554802808 GRCh37: 10:50828630-50828630
GRCh38: 10:49620584-49620584
7 CHAT NM_020549.4(CHAT):c.1642C>T (p.Arg548Ter) SNV Pathogenic 461449 rs369251527 GRCh37: 10:50863148-50863148
GRCh38: 10:49655102-49655102
8 CHAT NM_020549.4(CHAT):c.476_477delinsAG (p.Phe159Ter) Indel Pathogenic 858247 GRCh37: 10:50827859-50827860
GRCh38: 10:49619813-49619814
9 CHAT NM_020549.5(CHAT):c.522_523dup (p.Leu175fs) Duplication Pathogenic 957139 GRCh37: 10:50827904-50827905
GRCh38: 10:49619858-49619859
10 CHAT NC_000010.11:g.(?_49614170)_(49665066_?)del Deletion Pathogenic 657906 GRCh37: 10:50822216-50873112
GRCh38: 10:49614170-49665066
11 CHAT NM_020549.5(CHAT):c.1007T>C SNV Pathogenic 17515 rs121912823 GRCh37: 10:50835727-50835727
GRCh38: 10:49627681-49627681
12 CHAT NM_020549.4(CHAT):c.1669G>A (p.Ala557Thr) SNV Pathogenic 461452 rs372760913 GRCh37: 10:50863175-50863175
GRCh38: 10:49655129-49655129
13 CHAT NM_020549.4(CHAT):c.631C>G (p.Pro211Ala) SNV Pathogenic 17506 rs121912815 GRCh37: 10:50828592-50828592
GRCh38: 10:49620546-49620546
14 LOC107303340 , VHL NM_000551.4(VHL):c.481C>T (p.Arg161Ter) SNV Pathogenic 2217 rs5030818 GRCh37: 3:10191488-10191488
GRCh38: 3:10149804-10149804
15 CHAT NM_020549.5(CHAT):c.262G>T (p.Glu88Ter) SNV Pathogenic 1028661 GRCh37: 10:50822497-50822497
GRCh38: 10:49614451-49614451
16 CHAT NM_020549.4(CHAT):c.406G>A (p.Val136Met) SNV Pathogenic 279754 rs201479289 GRCh37: 10:50827789-50827789
GRCh38: 10:49619743-49619743
17 CHAT NM_020549.4(CHAT):c.914T>C (p.Ile305Thr) SNV Pathogenic 17513 rs75466054 GRCh37: 10:50833680-50833680
GRCh38: 10:49625634-49625634
18 CHAT NM_020549.4(CHAT):c.635T>A (p.Val212Asp) SNV Likely pathogenic 434757 rs1554802792 GRCh37: 10:50828596-50828596
GRCh38: 10:49620550-49620550
19 CHAT NM_020549.4(CHAT):c.1254del (p.Asn419fs) Deletion Likely pathogenic 547966 rs1272947184 GRCh37: 10:50854692-50854692
GRCh38: 10:49646646-49646646
20 CHAT NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp) SNV Likely pathogenic 958997 GRCh37: 10:50863221-50863221
GRCh38: 10:49655175-49655175
21 CHAT NM_020549.4(CHAT):c.620G>A (p.Arg207His) SNV Conflicting interpretations of pathogenicity 289944 rs764497513 GRCh37: 10:50828581-50828581
GRCh38: 10:49620535-49620535
22 CHAT NM_020549.4(CHAT):c.665G>C (p.Arg222Pro) SNV Conflicting interpretations of pathogenicity 421843 rs8178989 GRCh37: 10:50828626-50828626
GRCh38: 10:49620580-49620580
23 CHAT NM_020549.4(CHAT):c.1511G>A (p.Arg504Gln) SNV Uncertain significance 498120 rs200335347 GRCh37: 10:50857682-50857682
GRCh38: 10:49649636-49649636
24 CHAT NM_020549.4(CHAT):c.605T>G (p.Met202Arg) SNV Uncertain significance 430062 rs376808313 GRCh37: 10:50828566-50828566
GRCh38: 10:49620520-49620520
25 CHAT NM_020549.4(CHAT):c.1843A>G (p.Ile615Val) SNV Uncertain significance 461454 rs759151717 GRCh37: 10:50870694-50870694
GRCh38: 10:49662648-49662648
26 CHAT NM_020549.4(CHAT):c.1061C>T (p.Thr354Met) SNV Uncertain significance 523528 rs769234940 GRCh37: 10:50835781-50835781
GRCh38: 10:49627735-49627735
27 CHAT NM_020984.3(CHAT):c.-68-2260AG[3] Microsatellite Uncertain significance 575316 rs531450737 GRCh37: 10:50822288-50822289
GRCh38: 10:49614242-49614243
28 CHAT NM_020549.5(CHAT):c.1169T>A (p.Leu390Gln) SNV Uncertain significance 1033537 GRCh37: 10:50854608-50854608
GRCh38: 10:49646562-49646562
29 CHAT NM_020549.5(CHAT):c.463T>A (p.Ser155Thr) SNV Uncertain significance 1033538 GRCh37: 10:50827846-50827846
GRCh38: 10:49619800-49619800
30 CHAT NM_020549.5(CHAT):c.532A>T (p.Thr178Ser) SNV Uncertain significance 1035329 GRCh37: 10:50827915-50827915
GRCh38: 10:49619869-49619869
31 CHAT NM_020549.5(CHAT):c.1892C>T (p.Ala631Val) SNV Uncertain significance 1037385 GRCh37: 10:50870743-50870743
GRCh38: 10:49662697-49662697
32 CHAT NM_020549.5(CHAT):c.1750G>A (p.Val584Met) SNV Uncertain significance 1038322 GRCh37: 10:50863256-50863256
GRCh38: 10:49655210-49655210
33 CHAT NM_020549.5(CHAT):c.280A>G (p.Arg94Gly) SNV Uncertain significance 1039005 GRCh37: 10:50822515-50822515
GRCh38: 10:49614469-49614469
34 CHAT NM_020549.4(CHAT):c.1823C>A (p.Thr608Asn) SNV Uncertain significance 194259 rs773228076 GRCh37: 10:50863478-50863478
GRCh38: 10:49655432-49655432
35 CHAT NM_020549.5(CHAT):c.839A>G (p.Tyr280Cys) SNV Uncertain significance 1039381 GRCh37: 10:50833605-50833605
GRCh38: 10:49625559-49625559
36 CHAT NM_020549.5(CHAT):c.1478G>T (p.Gly493Val) SNV Uncertain significance 1040411 GRCh37: 10:50857649-50857649
GRCh38: 10:49649603-49649603
37 CHAT NC_000010.10:g.(?_50821083)_(50874150_?)dup Duplication Uncertain significance 1041093 GRCh37: 10:50821083-50874150
GRCh38:
38 CHAT NM_020549.5(CHAT):c.86G>A (p.Arg29Lys) SNV Uncertain significance 1043323 GRCh37: 10:50822321-50822321
GRCh38: 10:49614275-49614275
39 CHAT NM_020549.5(CHAT):c.1381_1382inv (p.Val461Thr) Inversion Uncertain significance 1043354 GRCh37: 10:50856652-50856653
GRCh38: 10:49648606-49648607
40 CHAT NM_020549.5(CHAT):c.413C>T (p.Pro138Leu) SNV Uncertain significance 1043977 GRCh37: 10:50827796-50827796
GRCh38: 10:49619750-49619750
41 CHAT NM_020549.5(CHAT):c.2190C>A (p.Ser730Arg) SNV Uncertain significance 1044562 GRCh37: 10:50873035-50873035
GRCh38: 10:49664989-49664989
42 CHAT NM_020549.5(CHAT):c.26G>A (p.Arg9Lys) SNV Uncertain significance 1046326 GRCh37: 10:50822261-50822261
GRCh38: 10:49614215-49614215
43 CHAT NM_020984.3(CHAT):c.-39C>T SNV Uncertain significance 461458 rs776042082 GRCh37: 10:50824577-50824577
GRCh38: 10:49616531-49616531
44 CHAT NM_020549.4(CHAT):c.1142T>C (p.Ile381Thr) SNV Uncertain significance 577715 rs372758559 GRCh37: 10:50854581-50854581
GRCh38: 10:49646535-49646535
45 CHAT NM_020549.4(CHAT):c.1894C>T (p.Arg632Trp) SNV Uncertain significance 664107 rs141127966 GRCh37: 10:50870745-50870745
GRCh38: 10:49662699-49662699
46 CHAT NM_020549.4(CHAT):c.1635-3C>G SNV Uncertain significance 836347 GRCh37: 10:50863138-50863138
GRCh38: 10:49655092-49655092
47 CHAT NM_020549.4(CHAT):c.1801A>G (p.Lys601Glu) SNV Uncertain significance 841099 GRCh37: 10:50863456-50863456
GRCh38: 10:49655410-49655410
48 CHAT NM_020549.4(CHAT):c.1735G>A (p.Ala579Thr) SNV Uncertain significance 844118 GRCh37: 10:50863241-50863241
GRCh38: 10:49655195-49655195
49 CHAT NM_020984.3(CHAT):c.-68-2081A>C SNV Uncertain significance 850976 GRCh37: 10:50822467-50822467
GRCh38: 10:49614421-49614421
50 CHAT NM_020549.4(CHAT):c.719C>T (p.Ser240Phe) SNV Uncertain significance 863804 GRCh37: 10:50830163-50830163
GRCh38: 10:49622117-49622117

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

72
# 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 12.03 TP53 BRSK2 BRCA2 BRCA1
2
Show member pathways
11.05 TP53 BRCA2 BRCA1
3 10.6 TP53 BRCA1
4 10.42 TP53 STRADB BRSK2
5 10.33 VHL TP53

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 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 double-strand break repair GO:0006302 9.54 TP53 BRCA2 BRCA1
2 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.43 ERCC6 BRCA2 BRCA1
3 response to gamma radiation GO:0010332 9.33 TP53 ERCC6 BRCA2
4 chordate embryonic development GO:0043009 9.32 BRCA2 BRCA1
5 response to X-ray GO:0010165 9.13 TP53 ERCC6 BRCA2
6 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.8 TP53 BRCA2 BRCA1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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