CMS11
MCID: MYS057
MIFTS: 38

Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency (CMS11)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Myasthenic Syndrome, Congenital, 11, Associated with...

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:

Name: Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 57 72 29 6
Cms11 57 12 72
Myasthenic Syndrome, Congenital, Ie 72 70
Congenital Myasthenic Syndrome 11 12 15
Cms Ie 12 72
Cms1e 12 72
Myasthenic Syndrome, Congenital, Type 11, Associated with Acetylcholine Receptor Deficiency 39
Congenital Myasthenic Syndrome 11 Associated with Acetylcholine Receptor Deficiency 12
Myasthenic Syndrome, Congenital, Ie, Formerly; Cms1e, Formerly 57
Myasthenic Syndrome, Congenital, Ie, Formerly 57
Congenital Myasthenic Syndrome 1e 12
Cms Ie, Formerly 57
Cms1e, Formerly 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
favorable response to treatment with cholinesterase inhibitors or amifampridine


HPO:

31
myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110675
OMIM® 57 616326
OMIM Phenotypic Series 57 PS601462
MeSH 44 D020294
UMLS 70 C1837094

Summaries for Myasthenic Syndrome, Congenital, 11, Associated with...

UniProtKB/Swiss-Prot : 72 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency: 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. CMS11 is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current.

MalaCards based summary : Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency, also known as cms11, is related to myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency and myringitis bullosa hemorrhagica. An important gene associated with Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency is RAPSN (Receptor Associated Protein Of The Synapse), and among its related pathways/superpathways is Mitochondrial protein import. Related phenotypes are arthrogryposis multiplex congenita and ptosis

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has material basis in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.

OMIM® : 57 Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (616326) (Updated 05-Apr-2021)

Related Diseases for Myasthenic Syndrome, Congenital, 11, Associated with...

Diseases related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 11.2
2 myringitis bullosa hemorrhagica 10.2 MATN3 CTDSP2
3 acute tympanitis 10.2 MATN3 CTDSP2
4 myasthenic syndrome, congenital, 16 10.1 MATN3 CTDSP2
5 myasthenic syndrome, congenital, 22 10.0 PREPL BCHE
6 neuromuscular junction disease 10.0 RAPSN PREPL BCHE
7 ocular motility disease 9.8 RAPSN MT-ATP6
8 functional colonic disease 9.7 SST BCHE
9 colonic pseudo-obstruction 9.7 SST BCHE
10 articulation disorder 9.7 SST CMIP
11 esophageal varix 9.7 SST BCHE
12 neonatal period electroclinical syndrome 9.6 MT-ATP6 CDKL5

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:



Diseases related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 11, Associated with...

Human phenotypes related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 arthrogryposis multiplex congenita 31 occasional (7.5%) HP:0002804
2 ptosis 31 HP:0000508
3 high palate 31 HP:0000218
4 respiratory insufficiency 31 HP:0002093
5 neonatal hypotonia 31 HP:0001319
6 easy fatigability 31 HP:0003388
7 long face 31 HP:0000276
8 decreased fetal movement 31 HP:0001558
9 feeding difficulties 31 HP:0011968
10 gowers sign 31 HP:0003391

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
ptosis
long face

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
poor feeding

Respiratory:
respiratory insufficiency, episodic

Muscle Soft Tissue:
easy fatigability
gowers sign
hypotonia, neonatal
decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation
decreased achr at the endplate
more
Skeletal:
joint contractures
arthrogryposis (in some patients)

Prenatal Manifestations Movement:
decreased fetal movements

Neurologic Central Nervous System:
delayed motor development due to muscle weakness

Clinical features from OMIM®:

616326 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 BCHE CMIP CTDSP2 PMPCA PMPCB PREPL

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 11, Associated with...

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency

Genetic Tests for Myasthenic Syndrome, Congenital, 11, Associated with...

Genetic tests related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:

# Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 29 RAPSN

Anatomical Context for Myasthenic Syndrome, Congenital, 11, Associated with...

Publications for Myasthenic Syndrome, Congenital, 11, Associated with...

Articles related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:

(show all 40)
# Title Authors PMID Year
1
Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome. 6 57
25194721 2014
2
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing. 57 6
20930056 2010
3
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. 57 6
15286164 2004
4
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. 6 57
14504330 2003
5
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. 57 6
12651869 2003
6
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. 6 57
11791205 2002
7
Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews. A new genetic syndrome. 6 57
2245297 1990
8
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. 6
30266223 2018
9
Molecular characterization of congenital myasthenic syndromes in Spain. 6
29054425 2017
10
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. 6
28495245 2017
11
Late presentations of congenital myasthenic syndromes: How many do we miss? 6
26910802 2016
12
Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress. 6
26927095 2016
13
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. 6
26147564 2015
14
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 57
25792100 2015
15
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 6
24319099 2014
16
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. 6
22326364 2012
17
Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. 6
21305573 2011
18
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
19
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. 6
20157724 2010
20
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 6
19620612 2009
21
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. 6
18179903 2008
22
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. 6
17686188 2007
23
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. 6
17594401 2007
24
Unusual features in a boy with the rapsyn N88K mutation. 6
17190963 2006
25
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. 6
16931511 2006
26
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. 6
16945936 2006
27
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. 6
15482960 2004
28
Regulation of the rapsyn promoter by kaiso and delta-catenin. 6
15282317 2004
29
Distinct phenotypes of congenital acetylcholine receptor deficiency. 6
15145336 2004
30
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. 6
15036330 2004
31
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders. 6
14729848 2004
32
Common founder effect of rapsyn N88K studied using intragenic markers. 57
15252722 2004
33
Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. 6
12929188 2003
34
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. 6
12796535 2003
35
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. 6
12807980 2003
36
Identification of pathogenic mutations in the human rapsyn gene. 6
12730725 2003
37
Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes. 57
9813454 1998
38
Hereditary disorders among Iranian Jews. 57
7573153 1995
39
Assessment of the diversity of Paenibacillus species in environmental samples by a novel rpoB-based PCR-DGGE method. 61
16329951 2005
40
Application of a novel Paenibacillus-specific PCR-DGGE method and sequence analysis to assess the diversity of Paenibacillus spp. in the maize rhizosphere. 61
12782377 2003

Variations for Myasthenic Syndrome, Congenital, 11, Associated with...

ClinVar genetic disease variations for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:

6 (show top 50) (show all 190)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAPSN NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro) SNV Pathogenic 8047 rs104894300 GRCh37: 11:47470476-47470476
GRCh38: 11:47448924-47448924
2 RAPSN RAPSN, 1-BP INS, 46C Insertion Pathogenic 8049 GRCh37:
GRCh38:
3 RAPSN NM_005055.5(RAPSN):c.807C>A (p.Tyr269Ter) SNV Pathogenic 8050 rs104894301 GRCh37: 11:47463268-47463268
GRCh38: 11:47441716-47441716
4 RAPSN NM_005055.5(RAPSN):c.193-15C>A SNV Pathogenic 8053 rs45547231 GRCh37: 11:47469717-47469717
GRCh38: 11:47448165-47448165
5 RAPSN NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys) SNV Pathogenic 8056 rs121909255 GRCh37: 11:47469411-47469411
GRCh38: 11:47447859-47447859
6 RAPSN NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter) SNV Pathogenic 476121 rs1479498379 GRCh37: 11:47469525-47469525
GRCh38: 11:47447973-47447973
7 RAPSN NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter) SNV Pathogenic 476126 rs1555142603 GRCh37: 11:47463222-47463222
GRCh38: 11:47441670-47441670
8 RAPSN NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter) SNV Pathogenic 664620 rs201947904 GRCh37: 11:47460452-47460452
GRCh38: 11:47438901-47438901
9 RAPSN NM_005055.5(RAPSN):c.493G>A (p.Val165Met) SNV Pathogenic 856323 GRCh37: 11:47469402-47469402
GRCh38: 11:47447850-47447850
10 RAPSN NC_000011.10:g.(?_47447802)_(47449175_?)del Deletion Pathogenic 832215 GRCh37: 11:47469354-47470727
GRCh38:
11 RAPSN NC_000011.10:g.(?_47437965)_(47438941_?)del Deletion Pathogenic 832988 GRCh37: 11:47459516-47460492
GRCh38:
12 RAPSN NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter) SNV Pathogenic 939708 GRCh37: 11:47469537-47469537
GRCh38: 11:47447985-47447985
13 RAPSN NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter) SNV Pathogenic 947985 GRCh37: 11:47460384-47460384
GRCh38: 11:47438833-47438833
14 RAPSN NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) SNV Pathogenic 802677 rs1595903667 GRCh37: 11:47470456-47470456
GRCh38: 11:47448904-47448904
15 RAPSN NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys) SNV Pathogenic 8056 rs121909255 GRCh37: 11:47469411-47469411
GRCh38: 11:47447859-47447859
16 RAPSN NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs) Deletion Pathogenic 632161 rs765096923 GRCh37: 11:47460404-47460420
GRCh38: 11:47438853-47438869
17 RAPSN NM_005055.5(RAPSN):c.1116_1118GAA[1] (p.Lys373del) Microsatellite Pathogenic 847394 GRCh37: 11:47460328-47460330
GRCh38: 11:47438777-47438779
18 RAPSN NM_005055.5(RAPSN):c.11dup (p.Asp4fs) Duplication Pathogenic 952498 GRCh37: 11:47470505-47470506
GRCh38: 11:47448953-47448954
19 RAPSN NC_000011.10:g.(?_47437955)_(47438951_?)del Deletion Pathogenic 542739 GRCh37: 11:47459506-47460502
GRCh38: 11:47437955-47438951
20 RAPSN NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs) Duplication Pathogenic 8048 rs786200904 GRCh37: 11:47464344-47464345
GRCh38: 11:47442792-47442793
21 RAPSN NG_008312.1(RAPSN):g.5005A>G SNV Pathogenic 8051 rs786200905 GRCh37: 11:47470726-47470726
GRCh38: 11:47449174-47449174
22 RAPSN RAPSN, 2-BP DEL, 1177AA Deletion Pathogenic 8057 GRCh37:
GRCh38:
23 RAPSN NM_005055.5(RAPSN):c.1081_1082CT[3] (p.Tyr362fs) Microsatellite Pathogenic 190252 rs786205885 GRCh37: 11:47460364-47460365
GRCh38: 11:47438813-47438814
24 RAPSN NM_005055.5(RAPSN):c.133G>A (p.Val45Met) SNV Pathogenic 8055 rs121909254 GRCh37: 11:47470384-47470384
GRCh38: 11:47448832-47448832
25 RAPSN NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) SNV Pathogenic 8052 rs104894293 GRCh37: 11:47463227-47463227
GRCh38: 11:47441675-47441675
26 RAPSN NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) SNV Pathogenic 8054 rs104894294 GRCh37: 11:47469405-47469405
GRCh38: 11:47447853-47447853
27 RAPSN NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) SNV Pathogenic 8046 rs104894299 GRCh37: 11:47469631-47469631
GRCh38: 11:47448079-47448079
28 RAPSN NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) SNV Pathogenic/Likely pathogenic 8046 rs104894299 GRCh37: 11:47469631-47469631
GRCh38: 11:47448079-47448079
29 RAPSN NM_005055.5(RAPSN):c.133G>A (p.Val45Met) SNV Pathogenic/Likely pathogenic 8055 rs121909254 GRCh37: 11:47470384-47470384
GRCh38: 11:47448832-47448832
30 RAPSN NG_008312.1(RAPSN):g.5005A>G SNV Pathogenic/Likely pathogenic 8051 rs786200905 GRCh37: 11:47470726-47470726
GRCh38: 11:47449174-47449174
31 RAPSN NM_005055.4(RAPSN):c.-199C>G SNV Likely pathogenic 264677 rs886037842 GRCh37: 11:47470715-47470715
GRCh38: 11:47449163-47449163
32 RAPSN NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) SNV Conflicting interpretations of pathogenicity 304973 rs140996453 GRCh37: 11:47463254-47463254
GRCh38: 11:47441702-47441702
33 RAPSN NM_005055.5(RAPSN):c.1066G>A (p.Val356Met) SNV Uncertain significance 304970 rs570140663 GRCh37: 11:47460383-47460383
GRCh38: 11:47438832-47438832
34 RAPSN NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile) SNV Uncertain significance 582364 rs747627949 GRCh37: 11:47470458-47470458
GRCh38: 11:47448906-47448906
35 RAPSN NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp) SNV Uncertain significance 542734 rs529117281 GRCh37: 11:47460413-47460413
GRCh38: 11:47438862-47438862
36 RAPSN NM_005055.5(RAPSN):c.889G>A (p.Val297Met) SNV Uncertain significance 542737 rs369570812 GRCh37: 11:47463186-47463186
GRCh38: 11:47441634-47441634
37 RAPSN NM_005055.5(RAPSN):c.215C>T (p.Thr72Met) SNV Uncertain significance 647539 rs770633491 GRCh37: 11:47469680-47469680
GRCh38: 11:47448128-47448128
38 RAPSN NM_005055.5(RAPSN):c.1180A>C (p.Asn394His) SNV Uncertain significance 659635 rs762532220 GRCh37: 11:47459585-47459585
GRCh38: 11:47438034-47438034
39 RAPSN NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) SNV Uncertain significance 304973 rs140996453 GRCh37: 11:47463254-47463254
GRCh38: 11:47441702-47441702
40 RAPSN NM_005055.5(RAPSN):c.690+10C>T SNV Uncertain significance 304977 rs78293924 GRCh37: 11:47464198-47464198
GRCh38: 11:47442646-47442646
41 RAPSN NM_005055.5(RAPSN):c.1041G>A (p.Ala347=) SNV Uncertain significance 259623 rs149683345 GRCh37: 11:47460408-47460408
GRCh38: 11:47438857-47438857
42 RAPSN NM_005055.5(RAPSN):c.1066G>A (p.Val356Met) SNV Uncertain significance 304970 rs570140663 GRCh37: 11:47460383-47460383
GRCh38: 11:47438832-47438832
43 RAPSN NM_005055.5(RAPSN):c.492C>T (p.Arg164=) SNV Uncertain significance 304978 rs146237774 GRCh37: 11:47469403-47469403
GRCh38: 11:47447851-47447851
44 RAPSN NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr) Inversion Uncertain significance 958558 GRCh37: 11:47469438-47469439
GRCh38: 11:47447886-47447887
45 RAPSN NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln) SNV Uncertain significance 542732 rs757902272 GRCh37: 11:47460421-47460421
GRCh38: 11:47438870-47438870
46 RAPSN NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys) SNV Uncertain significance 542733 rs549232026 GRCh37: 11:47460440-47460440
GRCh38: 11:47438889-47438889
47 RAPSN NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr) SNV Uncertain significance 542736 rs1198813718 GRCh37: 11:47469450-47469450
GRCh38: 11:47447898-47447898
48 RAPSN NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn) SNV Uncertain significance 567562 rs1198989939 GRCh37: 11:47469663-47469663
GRCh38: 11:47448111-47448111
49 RAPSN NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr) SNV Uncertain significance 567634 rs145197671 GRCh37: 11:47469699-47469699
GRCh38: 11:47448147-47448147
50 RAPSN NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln) SNV Uncertain significance 571961 rs780963721 GRCh37: 11:47463439-47463439
GRCh38: 11:47441887-47441887

UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency:

72
# Symbol AA change Variation ID SNP ID
1 RAPSN p.Leu14Pro VAR_021216 rs104894300
2 RAPSN p.Asn88Lys VAR_021217 rs104894299
3 RAPSN p.Val45Met VAR_043898 rs121909254
4 RAPSN p.Glu162Lys VAR_043900 rs121909255
5 RAPSN p.Arg164Cys VAR_043901 rs104894294
6 RAPSN p.Leu283Pro VAR_043903 rs104894293

Expression for Myasthenic Syndrome, Congenital, 11, Associated with...

Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency.

Pathways for Myasthenic Syndrome, Congenital, 11, Associated with...

Pathways related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.59 TOMM40 PMPCB PMPCA

GO Terms for Myasthenic Syndrome, Congenital, 11, Associated with...

Cellular components related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.26 TOMM40 PMPCB PMPCA MT-ATP6
2 integral component of mitochondrial outer membrane GO:0031307 8.62 TOMM40 RHOT1

Biological processes related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to organonitrogen compound GO:0010243 9.16 SST ATP4B
2 mitochondrial calcium ion transmembrane transport GO:0006851 8.96 PMPCB PMPCA
3 protein processing involved in protein targeting to mitochondrion GO:0006627 8.62 PMPCB PMPCA

Sources for Myasthenic Syndrome, Congenital, 11, Associated with...

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