Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMS11 MCID: MYS057 MIFTS: 38	Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency (CMS11) Categories: Genetic diseases, Muscle diseases, Neuronal diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110675

OMIM® ⁵⁷ 616326

OMIM Phenotypic Series ⁵⁷ PS601462

MeSH ⁴⁴ D020294

MedGen ⁴¹ C1837094 C4225367

SNOMED-CT via HPO ⁶⁸ 111246005 11934000 205294008 more

UMLS ⁷⁰ C1837094

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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)

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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:

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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

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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

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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

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

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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	Das AS...Cohen BH	25194721	2014
2	Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing. ⁵⁷ ⁶	Gaudon K...Richard P	20930056	2010
3	The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. ⁵⁷ ⁶	Muller JS...Lochmuller H	15286164	2004
4	Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. ⁶ ⁵⁷	Burke G...Beeson D	14504330	2003
5	E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. ⁵⁷ ⁶	Ohno K...Engel AG	12651869	2003
6	Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. ⁶ ⁵⁷	Ohno K...Milone M	11791205	2002
7	Congenital myasthenia associated with facial malformations in Iraqi and Iranian Jews. A new genetic syndrome. ⁶ ⁵⁷	Goldhammer Y...Goodman RM	2245297	1990
8	Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. ⁶	Estephan EP...Zanoteli E	30266223	2018
9	Molecular characterization of congenital myasthenic syndromes in Spain. ⁶	Natera-de Benito D...Nascimento A	29054425	2017
10	Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. ⁶	Winters L...Breckpot J	28495245	2017
11	Late presentations of congenital myasthenic syndromes: How many do we miss? ⁶	Garg N...Reddel SW	26910802	2016
12	Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress. ⁶	Imperatore V...Frullanti E	26927095	2016
13	Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. ⁶	Alamillo CL...Tang S	26147564	2015
14	Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. ⁵⁷	Engel AG...Sine SM	25792100	2015
15	Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. ⁶	Laquerriere A...Melki J	24319099	2014
16	A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. ⁶	Leshinsky-Silver E...Lev D	22326364	2012
17	Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. ⁶	Alseth EH...Skeie GO	21305573	2011
18	Carrier testing for severe childhood recessive diseases by next-generation sequencing. ⁶	Bell CJ...Kingsmore SF	21228398	2011
19	Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. ⁶	Brugnoni R...Mantegazza R	20157724	2010
20	Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. ⁶	Milone M...Engel AG	19620612	2009
21	Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. ⁶	Vogt J...Maher ER	18179903	2008
22	Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. ⁶	Muller JS...Lochmuller H	17686188	2007
23	Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. ⁶	Maselli R...Wollmann R	17594401	2007
24	Unusual features in a boy with the rapsyn N88K mutation. ⁶	Skeie GO...Bindoff LA	17190963	2006
25	Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations. ⁶	Muller JS...Lochmuller H	16931511	2006
26	Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. ⁶	Cossins J...Beeson D	16945936	2006
27	A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. ⁶	Muller JS...Lochmuller H	15482960	2004
28	Regulation of the rapsyn promoter by kaiso and delta-catenin. ⁶	Rodova M...Werle MJ	15282317	2004
29	Distinct phenotypes of congenital acetylcholine receptor deficiency. ⁶	Burke G...Beeson D	15145336	2004
30	Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. ⁶	Banwell BL...Engel AG	15036330	2004
31	Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders. ⁶	Ohno K...Engel AG	14729848	2004
32	Common founder effect of rapsyn N88K studied using intragenic markers. ⁵⁷	Dunne V...Maselli RA	15252722	2004
33	Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. ⁶	Maselli RA...Wollmann RL	12929188	2003
34	Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. ⁶	Muller JS...Abicht A	12796535	2003
35	Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. ⁶	Richard P...Hantai D	12807980	2003
36	Identification of pathogenic mutations in the human rapsyn gene. ⁶	Dunne V...Maselli RA	12730725	2003
37	Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes. ⁵⁷	Menold MM...Pericak-Vance MA	9813454	1998
38	Hereditary disorders among Iranian Jews. ⁵⁷	Zlotogora J	7573153	1995
39	Assessment of the diversity of Paenibacillus species in environmental samples by a novel rpoB-based PCR-DGGE method. ⁶¹	da Mota FF...Seldin L	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	da Silva KR...van Elsas JD	12782377	2003

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

Genes/enhancers related to Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency (1 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RAPSN	Receptor Associated Protein Of The Synapse	Protein Coding	1353.01	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	11791205 12730725 14729848 (more) 19620612 12651869
1	RAPSN::GH11J047447	TSS distance: +0.4kb Elite enhancer with elite association with RAPSN			Curated enhancer-disease association ²⁴ ( 27569544 )	12651869
2	PREPL	Prolyl Endopeptidase Like	Protein Coding	7.93	DISEASES inferred ¹⁵
3	PMPCB	Peptidase, Mitochondrial Processing Subunit Beta	Protein Coding	7.21	DISEASES inferred ¹⁵
4	PMPCA	Peptidase, Mitochondrial Processing Subunit Alpha	Protein Coding	7.01	DISEASES inferred ¹⁵
5	CTDSP2	CTD Small Phosphatase 2	Protein Coding	6.88	DISEASES inferred ¹⁵
6	MATN3	Matrilin 3	Protein Coding	6.43	DISEASES inferred ¹⁵
7	TOMM40	Translocase Of Outer Mitochondrial Membrane 40	Protein Coding	5.94	DISEASES inferred ¹⁵
8	ATP4B	ATPase H+/K+ Transporting Subunit Beta	Protein Coding	5.57	DISEASES inferred ¹⁵
9	CMIP	C-Maf Inducing Protein	Protein Coding	5.28	DISEASES inferred ¹⁵
10	RHOT1	Ras Homolog Family Member T1	Protein Coding	5.01	DISEASES inferred ¹⁵
11	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	4.6	DISEASES inferred ¹⁵
12	TRIM8	Tripartite Motif Containing 8	Protein Coding	4.57	DISEASES inferred ¹⁵
13	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	4.34	DISEASES inferred ¹⁵
14	SST	Somatostatin	Protein Coding	3.87	DISEASES inferred ¹⁵
15	BCHE	Butyrylcholinesterase	Protein Coding	3.67	DISEASES inferred ¹⁵

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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

Sources

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.

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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	Mitochondrial protein import ⁶⁵	10.59	TOMM40 PMPCB PMPCA

Sources

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

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¹ BioSystems

² BitterDB

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²⁴ GeneHancer via GeneCards

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³² ICD10

³³ ICD10 via Orphanet

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⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

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

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

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Characteristics:

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

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

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

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:

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