MCID: MYS052
MIFTS: 28

Myasthenic Syndrome, Congenital, 10 malady

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 10

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Aliases & Descriptions for Myasthenic Syndrome, Congenital, 10:

Name: Myasthenic Syndrome, Congenital, 10 50 68
Myasthenia, Limb-Girdle, Familial 68 25 12
Congenital Myasthenic Syndrome Type Ib 68
Congenital Myasthenic Syndrome Type 1b 68
Myasthenic Myopathy 68
 
Cms Ib 68
Cms1b 68
Cms10 68
Lgm 68

Characteristics:

HPO:

62
myasthenic syndrome, congenital, 10:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

OMIM50 254300
MedGen35 C1850792
MeSH37 D020294

Summaries for Myasthenic Syndrome, Congenital, 10

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UniProtKB/Swiss-Prot:68 Myasthenic syndrome, congenital, 10: 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. CMS10 is an autosomal recessive, post-synaptic form characterized by a typical 'limb girdle' pattern of muscle weakness with small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function.

MalaCards based summary: Myasthenic Syndrome, Congenital, 10, also known as myasthenia, limb-girdle, familial, is related to myasthenic syndrome, congenital, 1b, fast-channel and agrn-related congenital myasthenic syndrome, and has symptoms including ophthalmoparesis, decreased fetal movement and ptosis. An important gene associated with Myasthenic Syndrome, Congenital, 10 is DOK7 (Docking Protein 7).

OMIM:50 Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ).... (254300) more...

Related Diseases for Myasthenic Syndrome, Congenital, 10

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Symptoms for Myasthenic Syndrome, Congenital, 10

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Symptoms by clinical synopsis from OMIM:

254300

Clinical features from OMIM:

254300

HPO human phenotypes related to Myasthenic Syndrome, Congenital, 10:

(show all 15)
id Description Frequency HPO Source Accession
1 ophthalmoparesis rare (5%) HP:0000597
2 decreased fetal movement rare (5%) HP:0001558
3 ptosis HP:0000508
4 bulbar palsy HP:0001283
5 waddling gait HP:0002515
6 abnormality of the immune system HP:0002715
7 respiratory insufficiency due to muscle weakness HP:0002747
8 easy fatigability HP:0003388
9 gowers sign HP:0003391
10 muscle cramps HP:0003394
11 fatigable weakness HP:0003473
12 distal amyotrophy HP:0003693
13 proximal amyotrophy HP:0007126
14 mildly elevated creatine phosphokinase HP:0008180
15 facial palsy HP:0010628

UMLS symptoms related to Myasthenic Syndrome, Congenital, 10:


facial paresis

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 10

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Drugs for Myasthenic Syndrome, Congenital, 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
4-AminopyridinePhase 367504-24-51727
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
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
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Amifampridine Phosphate for the Treatment of Congenital Myasthenic SyndromesRecruitingNCT02562066Phase 3
2Ephedrine for the Treatment of Congenital MyastheniaEnrolling by invitationNCT00541216Phase 1, Phase 2
3Efficacy of Albuterol in the Treatment of Congenital Myasthenic SyndromesCompletedNCT01203592Phase 1
43,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM)AvailableNCT02012933
5Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS), or Downbeat Nystagmus PatientsAvailableNCT02189720

Search NIH Clinical Center for Myasthenic Syndrome, Congenital, 10

Genetic Tests for Myasthenic Syndrome, Congenital, 10

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Genetic tests related to Myasthenic Syndrome, Congenital, 10:

id Genetic test Affiliating Genes
1 Myasthenia, Limb-Girdle, Familial25

Anatomical Context for Myasthenic Syndrome, Congenital, 10

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Animal Models for Myasthenic Syndrome, Congenital, 10 or affiliated genes

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Publications for Myasthenic Syndrome, Congenital, 10

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Variations for Myasthenic Syndrome, Congenital, 10

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UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, 10:

68 (show all 19)
id Symbol AA change Variation ID SNP ID
1DOK7p.Gly180AlaVAR_027544rs118203994
2DOK7p.Arg158GlnVAR_031246rs6811423
3DOK7p.Glu3LysVAR_068750rs763233743
4DOK7p.Pro31ThrVAR_068751
5DOK7p.Ala33ValVAR_068752
6DOK7p.Thr77MetVAR_068754
7DOK7p.Gly109CysVAR_068756
8DOK7p.Val116MetVAR_068757
9DOK7p.His132GlnVAR_068758
10DOK7p.Val139LeuVAR_068759
11DOK7p.Pro146LeuVAR_068760rs770987150
12DOK7p.Leu157ArgVAR_068761
13DOK7p.Gly161ArgVAR_068762rs758131044
14DOK7p.Gly166ArgVAR_068763rs781227659
15DOK7p.Gly171AspVAR_068764
16DOK7p.Gly171ArgVAR_068765
17DOK7p.Gly172ArgVAR_068766rs768892432
18DOK7p.Gly180ValVAR_068767
19DOK7p.Pro469HisVAR_068773rs147185207

Clinvar genetic disease variations for Myasthenic Syndrome, Congenital, 10:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1DOK7NM_173660.4(DOK7): c.1124_1127dupTGCC (p.Ala378Serfs)duplicationPathogenicrs606231128GRCh38Chr 4, 3493110: 3493113
2DOK7NM_173660.4(DOK7): c.1263dupC (p.Ser422Leufs)duplicationPathogenicrs606231129GRCh38Chr 4, 3493249: 3493249
3DOK7NM_173660.4(DOK7): c.548_551delTCCT (p.Phe183Cysfs)deletionPathogenicrs606231130GRCh38Chr 4, 3485554: 3485557
4DOK7NM_173660.4(DOK7): c.1339_1342dupCTGG (p.Gly448Alafs)duplicationPathogenicrs606231131GRCh38Chr 4, 3493325: 3493328
5DOK7NM_173660.4(DOK7): c.1143dupC (p.Glu382Argfs)duplicationPathogenicrs606231132GRCh38Chr 4, 3493129: 3493129
6DOK7NM_173660.4(DOK7): c.539G> C (p.Gly180Ala)single nucleotide variantPathogenicrs118203994GRCh37Chr 4, 3487272: 3487272
7DOK7NM_173660.4(DOK7): c.601C> T (p.Arg201Ter)single nucleotide variantPathogenicrs118203995GRCh37Chr 4, 3487334: 3487334
8DOK7NM_173660.4(DOK7): c.55-1G> Tsingle nucleotide variantPathogenicrs863223277GRCh38Chr 4, 3463505: 3463505
9DOK7DOK7, IVS3DS, G-T, +1single nucleotide variantPathogenic
10DOK7NM_173660.4(DOK7): c.1378dupC (p.Gln460Profs)duplicationPathogenicrs606231133GRCh38Chr 4, 3493364: 3493364
11DOK7NM_173660.4(DOK7): c.957delC (p.Lys320Serfs)deletionPathogenicrs794727884GRCh38Chr 4, 3492943: 3492943
12DOK7NM_173660.4(DOK7): c.1476_1485dupTCCAGTCTGT (p.Gly496Serfs)duplicationPathogenicrs797045040GRCh37Chr 4, 3495189: 3495198
13DOK7NM_173660.4(DOK7): c.1138dupG (p.Ala380Glyfs)duplicationPathogenicrs761899995GRCh37Chr 4, 3494851: 3494851
14DOK7NM_173660.4(DOK7): c.596delT (p.Ile199Thrfs)deletionPathogenicrs797045528GRCh37Chr 4, 3487329: 3487329
15DOK7NM_173660.4(DOK7): c.1263dupC (p.Ser422Leufs)duplicationPathogenicrs606231129GRCh38Chr 4, 3493249: 3493249

Expression for genes affiliated with Myasthenic Syndrome, Congenital, 10

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Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, 10.

Pathways for genes affiliated with Myasthenic Syndrome, Congenital, 10

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GO Terms for genes affiliated with Myasthenic Syndrome, Congenital, 10

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Sources for Myasthenic Syndrome, Congenital, 10

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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