MCID: MYS051
MIFTS: 34

Myasthenic Syndrome, Congenital, 5 malady

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 5

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Aliases & Descriptions for Myasthenic Syndrome, Congenital, 5:

Name: Myasthenic Syndrome, Congenital, 5 50 68
Endplate Acetylcholinesterase Deficiency 68 25 12 48
Myasthenic Syndrome, Congenital, Engel Type 68
End-Plate Acetylcholinesterase Deficiency 68
Synaptic Congenital Myasthenic Syndromes 52
Congenital Myasthenic Syndrome Type 1c 68
Congenital Myasthenic Syndrome Type Ic 68
 
Engel Congenital Myasthenic Syndrome 68
Cms Ic 68
Cms1c 68
Cmse 68
Cms5 68
Ead 68

Characteristics:

HPO:

62
myasthenic syndrome, congenital, 5:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 603034
Orphanet52 ORPHA98915
ICD10 via Orphanet29 G70.2
MedGen35 C1864233
MeSH37 D020294

Summaries for Myasthenic Syndrome, Congenital, 5

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OMIM:50 Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction. Patients... (603034) more...

MalaCards based summary: Myasthenic Syndrome, Congenital, 5, also known as endplate acetylcholinesterase deficiency, is related to congenital myasthenic syndrome and myasthenic syndrome, congenital, 1a, slow-channel, and has symptoms including ophthalmoparesis, ptosis and ophthalmoparesis. An important gene associated with Myasthenic Syndrome, Congenital, 5 is COLQ (Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:68 Myasthenic syndrome, congenital, 5: 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. CMS5 inheritance is autosomal recessive.

Related Diseases for Myasthenic Syndrome, Congenital, 5

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Symptoms for Myasthenic Syndrome, Congenital, 5

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Symptoms by clinical synopsis from OMIM:

603034

Clinical features from OMIM:

603034

HPO human phenotypes related to Myasthenic Syndrome, Congenital, 5:

(show all 21)
id Description Frequency HPO Source Accession
1 ptosis HP:0000508
2 ophthalmoparesis HP:0000597
3 muscular hypotonia HP:0001252
4 dysarthria HP:0001260
5 weak cry HP:0001612
6 dysphagia HP:0002015
7 respiratory insufficiency HP:0002093
8 scoliosis HP:0002650
9 abnormality of the immune system HP:0002715
10 respiratory insufficiency due to muscle weakness HP:0002747
11 decreased muscle mass HP:0003199
12 hyperlordosis HP:0003307
13 generalized muscle weakness HP:0003324
14 easy fatigability HP:0003388
15 emg HP:0003403
16 prolonged miniature endplate currents HP:0003436
17 decreased size of nerve terminals HP:0003443
18 fatigable weakness HP:0003473
19 type 2 muscle fiber atrophy HP:0003554
20 limb muscle weakness HP:0003690
21 feeding difficulties in infancy HP:0008872

UMLS symptoms related to Myasthenic Syndrome, Congenital, 5:


ophthalmoparesis

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 5

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Drugs for Myasthenic Syndrome, Congenital, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EphedrinePhase 1, Phase 2569299-42-39294
Synonyms:
( )-Pseudoephedrine
(+)-Ephedrin
(+)-Ephedrine
(+)-Pseudoephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(+-)-Ephedrine
(-)-Ephedrine
(-)-Pseudoephedrine
(-)-psi-Ephedrine
(-)-threo-Ephedrine
(1R,2R)-Ephedrine
(1R,2S)-1-Phenyl-1-hydroxy-2-methylaminopropane
(1S,2R)-Ephedrine
(L)-EPHEDRINE
--EPHEDRINE
1-EPHEDRINE
1-Sedrin
134910_ALDRICH
287636_ALDRICH
287644_ALDRICH
299-42-3
304-87-0
30987-59-8
321-96-0
321-97-1
321-98-2
37577-31-4
38732-95-5
45261_FLUKA
4607-45-8
50-98-6
50906-05-3
53214-57-6
649031_ALDRICH
6912-63-6
7009-81-6
90-82-4
968-63-8
AC-20231
AC-20292
AC1L1JGK
AC1L1NUA
AC1L1RFA
AC1L1SR1
AC1L1T31
AC1L1Y3M
AC1O8JUO
AC1Q3XJE
AC1Q3XJM
AC1Q3XJN
AC1Q59F5
AC1Q7701
AI3-02761
AKOS000268842
AR-1A0126
AR-1I7143
Acunaso
Acunaso (TN)
Afrinol
Ambap299-42-3
BIDD:GT0817
BRN 3197916
BRN 4231286
BSPBio_001946
BSPBio_001968
BSPBio_003261
Benylin Decongestant
Besan
Biophedrin
C01575
C02765
C10H15NO
CHEBI:15407
CHEBI:51209
CHEMBL1590
CHEMBL211456
CHEMBL357080
CID11972440
CID5032
CID62946
CID6710657
CID7028
CID8650
CID9294
CID9457
CPD-9954
CPDD 0049
Cenafed
D00124
D08449
DB00852
DB01364
Decofed
DivK1c_000181
DivK1c_000451
DivK1c_000461
Drixoral N.D.
EINECS 202-017-0
EINECS 202-018-6
EINECS 206-080-5
EINECS 206-292-8
EINECS 206-293-3
Eciphin
Efedrin
Efidac/24
Eltor 120
Ephedral
Ephedremal
Ephedrin
Ephedrine
Ephedrine (TN)
Ephedrine (USP)
Ephedrine [USAN:BAN]
Ephedrine l-form
Ephedrital
Ephedrol
Ephedrosan
Ephedrotal
Ephedsol
Ephendronal
Ephoxamin
Fedrin
Genaphed
HSDB 3072
HSDB 3177
I-Sedrin
I01-3584
I01-8925
I01-8928
 
IDI1_000181
IDI1_000451
IDI1_000461
Isoephedrine
Jsp005664
KBio1_000181
KBio1_000451
KBio1_000461
KBio2_001358
KBio2_001500
KBio2_003926
KBio2_004068
KBio2_006494
KBio2_006636
KBio3_001188
KBio3_001446
KBio3_002762
KBioGR_001013
KBioGR_001763
KBioSS_001358
KBioSS_001500
KST-1A9168
Kratedyn
L(+)-psi-Ephedrine
L(-)-Ephedrine
L-(+)-Ephedrine
L-(-)-Ephedrine
L-Ephedrine
L-erythro-2-(Methylamino)-1-phenylpropan-1-ol
L000968
LS-125921
LS-125922
LS-43083
LS-63961
LS-63962
LS-63963
LS-63964
Lexofedrin
Lopac-E-3250
Lopac0_000501
MLS000069657
Manadrin
Mandrin
Maxenal
MolPort-001-684-474
MolPort-001-684-477
MolPort-001-684-478
MolPort-001-684-479
MolPort-001-769-085
Myfedrine
NCGC00015408-01
NCGC00015408-02
NCGC00162174-01
NCGC00178180-01
NCGC00178889-01
NCI-C55652
NCI60_002955
NINDS_000181
NINDS_000451
NINDS_000461
NSC 165609
NSC 170951
NSC 8971
NSC165609
NSC170951
NSC8971
Nasol
Neodurasina
Neodurasina (TN)
Oprea1_287330
PDSP1_000168
PDSP1_001106
PDSP1_001343
PDSP1_001345
PDSP1_001346
PDSP1_001347
PDSP2_000167
PDSP2_001090
PDSP2_001327
PDSP2_001329
PDSP2_001330
PDSP2_001331
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoephedrine (D)
Pseudoephedrinum
Psi-ephedrin
Psi-ephedrine
Robidrine
SMR000059174
SPBio_000214
SPBio_001365
SPBio_001377
ST023802
STK367993
STOCK1N-42675
Sanedrine
Spectrum2_000137
Spectrum2_001303
Spectrum2_001309
Spectrum3_000414
Spectrum3_000563
Spectrum3_001771
Spectrum4_000497
Spectrum4_001162
Spectrum5_000650
Spectrum5_000879
Spectrum5_001106
Spectrum_000878
Spectrum_001020
Sudafed
Sudafed Decongestant
UNII-03VRY66076
UNII-7CUC9DDI9F
UNII-GN83C131XS
Vencipon
WLN: QYR & Y1 & M1
WLN: QYR&Y1&M1
Zephrol
d-Ephedrine
d-Isoephedrine
d-Pseudoephedrine
d-psi-Ephedrine
l-Ephedrine
l-Pseudoephedrine
racephedrine
trans-Ephedrine
2
PseudoephedrinePhase 1, Phase 256990-82-47028
Synonyms:
( )-Pseudoephedrine
(+)-(1S,2S)-Pseudoephedrine
(+)-Pseudoephedrine
(+)-Psi-ephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(1S,2S)-(+)-Pseudoephedrine
(1S,2S)-2-(methylamino)-1-phenylpropan-1-ol
(1S,2S)-2-Methylamino-1-phenyl-1-propanol
(1S,2S)-Pseudoephedrine
(1S,2S)-Pseudoephedrine, polymer-bound
1-Ephedrine
2-(Methylamino)-1-phenyl-1-propanol
287636_ALDRICH
304-87-0
30987-59-8
37577-31-4
649031_ALDRICH
90-82-4
AC-20292
AC1L1NUA
Acunaso
Acunaso (TN)
Afrinol
BIDD:GT0817
BRD-K84175871-003-02-2
BSPBio_003261
Balminil Decongestant Syrup
Benylin Decongestant
Benzenemethanol, alpha-((1S)-1-(methylamino)ethyl)-, (alpha-S)- (9CI)
Besan
C02765
C10H15NO
CHEBI:51209
CHEMBL1590
CID7028
CPD-9954
Cenafed
D-Isoephedrine
D-Pseudoephedrine
D-Pseudoephedrine base
D-Psi-2-Methylamino-1-phenyl-1-propanol
D-Psi-2-methylamino-1-phenyl-1-propanol
D-Psi-Ephedrine
D-Psi-ephedrine
D08449
DB00852
Decofed
Dimetapp Decongestant
Dimetapp Decongestant Pediatric Drops
DivK1c_000451
Drixoral N.D.
Drixoral Nasal Decongestant
EINECS 202-018-6
Efidac 24 Pseudoephedrine Hcl
Efidac/24
Eltor 120
Ephedrine
Genaphed
HSDB 3177
I01-8928
IDI1_000451
 
Isoephedrine
KBio1_000451
KBio2_001358
KBio2_003926
KBio2_006494
KBio3_002762
KBioGR_001763
KBioSS_001358
L(+)-Psi-Ephedrine
L(+)-Psi-ephedrine
L(+)-psi-Ephedrine
L-(+)-Pseudoephedrine
LS-125922
Lopac-E-3250
Maxenal
MolPort-001-684-474
Myfedrine
NCGC00015408-01
NCGC00178180-01
NCI60_002955
NINDS_000451
Neodurasina
Neodurasina (TN)
Novafed
PDSP1_001347
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoefedrina [INN-Spanish]
Pseudoephedrine
Pseudoephedrine (D)
Pseudoephedrine (INN)
Pseudoephedrine D-form
Pseudoephedrine Ephedrine
Pseudoephedrine [INN:BAN]
Pseudoephedrine d-form
Pseudoephedrinum
Pseudoephedrinum [INN-Latin]
Psi-ephedrin
Psi-ephedrine
Robidrine
SPBio_001365
STOCK1N-42675
Spectrum2_001303
Spectrum3_001771
Spectrum4_001162
Spectrum5_000650
Spectrum_000878
Sudafed
Sudafed Decongestant
Sudafed Decongestant 12 Hour
Sudafed Decongestant Extra Strength
Triaminic AM Decongestant Formula
Triaminic Infant Oral Decongestant Drops
UNII-7CUC9DDI9F
alpha-(1-(Methylamino)ethyl)benzyl alcohol
d-Isoephedrine
d-Pseudoephedrine
d-psi-2-Methylamino-1-phenyl-1-propanol
d-psi-Ephedrine
trans-Ephedrine
3
4-Aminopyridine67504-24-51727
Synonyms:
.gamma.-Aminopyridine
275875_ALDRICH
36687_FLUKA
36687_RIEDEL
4 AP
4 Aminopyridine
4 Aminopyridine Sustained Release
4-AP
4-Aminopyridine
4-Aminopyridine 10
4-Aminopyridine Sustained Release
4-Pyridinamine
4-Pyridylamine
4-aminopyridine
5-22-09-00106 (Beilstein Handbook Reference)
504-24-5
A 0152
A0414
A78403_ALDRICH
AB1004971
AC-907/25014071
AC1L1C3R
AC1Q52BM
AI3-52547
AKOS000119896
Amaya
Amino-4 pyridine
Amino-4-Pyridine
Ampydin
Ampyra
Avitrol
Avitrol 200
BB_SC-6974
BRN 0105782
BSPBio_001562
Bio1_000353
Bio1_000842
Bio1_001331
Bio2_000282
Bio2_000762
C13728
C5H6N2
CHEBI:34385
CHEMBL284348
CID1727
Caswell No. 038
Compound 1861
D015761
D04127
Dalfampridine
DivK1c_000572
EINECS 207-987-9
EL-970
EPA Pesticide Chemical Code 069201
EU-0100032
FT-0083754
Fampridina
Fampridine
Fampridine (USAN/INN)
Fampridine SR
Fampridine [USAN:INN]
Fampridine-PR
Fampridine-SR
Fampridinum
HC150041
HMS1361O04
HMS1791O04
HMS1921H15
HMS1989O04
HMS2092F05
HMS501M14
HSDB 6037
IDI1_000572
IDI1_034032
InChI=1/C5H6N2/c6-5-1-3-7-4-2-5/h1-4H,(H2,6,7
KBio1_000572
 
KBio2_000282
KBio2_000635
KBio2_002850
KBio2_003203
KBio2_005418
KBio2_005771
KBio3_000563
KBio3_000564
KBio3_001888
KBioGR_000282
KBioGR_001505
KBioSS_000282
KBioSS_000635
LS-130202
Lopac-A-0152
Lopac0_000032
MLS000069400
Mi-W-3
MolPort-000-146-022
N07XX07
NCGC00015009-01
NCGC00015009-03
NCGC00015009-12
NCGC00024890-01
NCGC00024890-02
NCGC00024890-03
NCGC00024890-04
NCGC00024890-05
NCGC00024890-06
NCGC00024890-07
NCGC00024890-08
NCGC00024890-09
NCGC00024890-10
NINDS_000572
NSC 15041
NSC15041
Neurelan
Neurelan (TN)
P-Aminopyridine
PYRIDINE,4-AMINO
Philips 1861
Phillips 1861
Pimadin (free base)
Prc 1237
Pymadin
Pymadine
RCRA waste no. P008
SDCCGMLS-0066228.P001
SMR000058211
SPBio_001486
SPECTRUM1501130
STK298717
Spectrum2_001413
Spectrum3_000914
Spectrum4_001013
Spectrum5_001501
Spectrum_000155
Sustained Release, 4-Aminopyridine
TL8003344
Tocris-0940
UNII-BH3B64OKL9
UPCMLD-DP125
UPCMLD-DP125:001
VMI 10-3
VMI 103
VMI-10-3
VMI-103
VMI103
WLN: T6NJ DZ
[J.Pharmacol.Exp.Ther. 275:864 (1995)]
gamma-Aminopyridine
nchem.892-comp4
p-Aminopyridine
p-Aminopyridine [UN2671] [Poison]
p-Aminopyridine [UN2671] [Poison]
pyridin-4-amine
pyridin-4-ylamine

Interventional clinical trials:

idNameStatusNCT IDPhase
1Ephedrine for the Treatment of Congenital MyastheniaEnrolling by invitationNCT00541216Phase 1, Phase 2
2Treatment of Lambert-Eaton Myasthenic Syndrome (LEMS) With 3, 4 DAPNo longer availableNCT01378546

Search NIH Clinical Center for Myasthenic Syndrome, Congenital, 5

Genetic Tests for Myasthenic Syndrome, Congenital, 5

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Genetic tests related to Myasthenic Syndrome, Congenital, 5:

id Genetic test Affiliating Genes
1 Endplate Acetylcholinesterase Deficiency25

Anatomical Context for Myasthenic Syndrome, Congenital, 5

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MalaCards organs/tissues related to Myasthenic Syndrome, Congenital, 5:

34
Eye

Animal Models for Myasthenic Syndrome, Congenital, 5 or affiliated genes

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Publications for Myasthenic Syndrome, Congenital, 5

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Variations for Myasthenic Syndrome, Congenital, 5

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UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 5:

68
id Symbol AA change Variation ID SNP ID
1COLQp.Pro59GlnVAR_010133
2COLQp.Asp342GluVAR_010134rs758554049
3COLQp.Arg410GlnVAR_010135
4COLQp.Tyr430SerVAR_010136rs121908923
5COLQp.Cys444TyrVAR_010137
6COLQp.Ile337ThrVAR_071710

Clinvar genetic disease variations for Myasthenic Syndrome, Congenital, 5:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COLQCOLQ, 215-BP DEL, NT107deletionPathogenic
2COLQNM_005677.3(COLQ): c.640G> T (p.Glu214Ter)single nucleotide variantPathogenicrs104893733GRCh37Chr 3, 15512120: 15512120
3COLQNM_005677.3(COLQ): c.506C> G (p.Ser169Ter)single nucleotide variantPathogenicrs104893734GRCh37Chr 3, 15516954: 15516954
4COLQNM_005677.3(COLQ): c.844A> T (p.Arg282Ter)single nucleotide variantPathogenicrs121908922GRCh37Chr 3, 15499803: 15499803
5COLQNM_005677.3(COLQ): c.1082delC (p.Pro361Leufs)deletionPathogenicrs769982050GRCh37Chr 3, 15497519: 15497519
6COLQNM_005677.3(COLQ): c.788dupC (p.Pro265Alafs)duplicationPathogenicGRCh37Chr 3, 15507874: 15507874
7COLQNM_005677.3(COLQ): c.1289A> C (p.Tyr430Ser)single nucleotide variantPathogenicrs121908923GRCh37Chr 3, 15495345: 15495345
8COLQNM_005677.3(COLQ): c.943C> T (p.Arg315Ter)single nucleotide variantPathogenicrs121908924GRCh37Chr 3, 15499704: 15499704
9COLQCOLQ, IVS16DS, A-G, +3single nucleotide variantPathogenic
10COLQNM_005677.3(COLQ): c.718G> T (p.Gly240Ter)single nucleotide variantPathogenicrs104893735GRCh37Chr 3, 15507944: 15507944

Expression for genes affiliated with Myasthenic Syndrome, Congenital, 5

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Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 5.

Pathways for genes affiliated with Myasthenic Syndrome, Congenital, 5

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GO Terms for genes affiliated with Myasthenic Syndrome, Congenital, 5

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Cellular components related to Myasthenic Syndrome, Congenital, 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:00315949.6ACHE, COLQ
2synaptic cleftGO:00430839.6ACHE, COLQ
3cell junctionGO:00300549.3ACHE, COLQ
4basal laminaGO:00056058.9ACHE, COLQ, LAMB2
5synapseGO:00452028.8ACHE, LAMB2

Biological processes related to Myasthenic Syndrome, Congenital, 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine catabolic process in synaptic cleftGO:00015079.8ACHE, COLQ
2retina development in camera-type eyeGO:00600419.1ACHE, LAMB2
3cell adhesionGO:00071558.8ACHE, LAMB2

Sources for Myasthenic Syndrome, Congenital, 5

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet