MCID: MYS052
MIFTS: 37

Myasthenic Syndrome, Congenital, 10

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

Aliases & Classifications for Myasthenic Syndrome, Congenital, 10

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 10:

Name: Myasthenic Syndrome, Congenital, 10 57 75
Myasthenia, Limb-Girdle, Familial 75 29 13 6
Cms10 57 12 75
Congenital Myasthenic Syndrome Type Ib 12 75
Congenital Myasthenic Syndrome 10 12 15
Cms Ib 12 75
Cms1b 12 75
Lgm 12 75
Congenital Myasthenic Syndrome Type Ib, Formerly; Cms1b, Formerly 57
Myasthenia, Limb-Girdle, Familial, Formerly; Lgm, Formerly 57
Congenital Myasthenic Syndrome Type Ib, Formerly 57
Myasthenia, Limb-Girdle, Familial, Formerly 57
Myasthenic Syndrome, Congenital, Type 10 40
Congenital Myasthenic Syndrome Type 1b 75
Congenital Myasthenic Syndrome Ib 73
Familial Limb-Girdle Myasthenia 12
Myasthenic Myopathy, Formerly 57
Myopathy in Myasthenia Gravis 73
Myasthenic Myopathy 75
Cms Ib, Formerly 57
Cms1b, Formerly 57
Lgm, Formerly 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first decade (birth to age 5 years)
variably severity
intermittent exacerbations
poor response to acetylcholinesterase inhibitors or cholinergic agents
favorable response to ephedrine treatment


HPO:

32
myasthenic syndrome, congenital, 10:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Myasthenic Syndrome, Congenital, 10

UniProtKB/Swiss-Prot : 75 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 congenital myasthenic syndrome, and has symptoms including facial paresis An important gene associated with Myasthenic Syndrome, Congenital, 10 is DOK7 (Docking Protein 7), and among its related pathways/superpathways are tRNA Aminoacylation and TP53 Regulates Metabolic Genes. Related phenotypes are ptosis and ophthalmoparesis

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. CMS10 is an autosomal recessive CMS resulting from a postsynaptic defect affecting endplate maintenance of the NMJ. Patients present with limb-girdle weakness in the first decade. Treatment with ephedrine or salbutamol may be beneficial; cholinesterase inhibitors should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). (254300)

Disease Ontology : 12 A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has material basis in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p.

Related Diseases for Myasthenic Syndrome, Congenital, 10

Diseases in the Congenital Myasthenic Syndrome family:

Myasthenic Syndrome, Congenital, 10 Myasthenic Syndrome, Congenital, 5
Myasthenic Syndrome, Congenital, 12 Myasthenic Syndrome, Congenital, 16
Myasthenic Syndrome, Congenital, 13 Myasthenic Syndrome, Congenital, 8
Myasthenic Syndrome, Congenital, 22 Myasthenic Syndrome, Congenital, 15
Myasthenic Syndrome, Congenital, 14 Myasthenic Syndrome, Congenital, 17
Myasthenic Syndrome, Congenital, 18 Myasthenic Syndrome, Congenital, 19

Diseases related to Myasthenic Syndrome, Congenital, 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 myasthenic syndrome, congenital, 1b, fast-channel 11.7
2 congenital myasthenic syndrome 11.3
3 sparganosis 10.3 MT-CO1 MT-CYB
4 amelogenesis imperfecta, type iv 10.3 MT-CO1 MT-CYB
5 leber optic atrophy 10.2 MT-CO1 MT-CYB
6 parkinson disease, mitochondrial 10.2 MT-CYB MT-TT
7 urethritis 10.0 CD40LG MT-TG
8 cervix disease 9.9 CD40LG MT-TG
9 taeniasis 9.9 CD40LG MT-CO1
10 urethral syndrome 9.9 CD40LG MT-TG
11 ancylostomiasis 9.9 CD40LG MT-CO1
12 familial colorectal cancer 9.9 MT-CO1 MT-CYB
13 cystic echinococcosis 9.8 CD40LG MT-CO1
14 kearns-sayre syndrome 9.8 MT-CO1 MT-CYB
15 norwegian scabies 9.8 CD40LG MT-CO1
16 geniculate herpes zoster 9.8 CD40LG MT-TC
17 phlebotomus fever 9.7 CD40LG MT-CYB
18 dirofilariasis 9.7 CD40LG MT-CO1
19 echinococcosis 9.7 CD40LG MT-CO1
20 coccidiosis 9.6 CD40LG MT-CYB
21 pneumocystosis 9.6 CD40LG MT-CYB
22 parasitic helminthiasis infectious disease 9.6 CD40LG MT-CO1
23 carrion's disease 9.6 CD40LG MT-CYB
24 mitochondrial encephalomyopathy 9.5 MT-CO1 MT-CYB
25 mitochondrial disorders 9.4 MT-TC MT-TD MT-TT
26 parasitic protozoa infectious disease 9.3 CD40LG MT-CO1 MT-CYB

Graphical network of the top 20 diseases related to Myasthenic Syndrome, Congenital, 10:



Diseases related to Myasthenic Syndrome, Congenital, 10

Symptoms & Phenotypes for Myasthenic Syndrome, Congenital, 10

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
ophthalmoparesis (less common)

Laboratory Abnormalities:
mildly increased serum creatine kinase

Immunology:
absence of acetylcholine receptor (achr) autoantibodies

Prenatal Manifestations Movement:
decreased fetal movements (less common)

Muscle Soft Tissue:
easy fatigability
proximal muscle weakness due to defect at the neuromuscular junction
proximal muscle atrophy
bulbar muscle weakness
distal muscle atrophy
more
Head And Neck Face:
facial weakness

Respiratory:
respiratory muscle weakness


Clinical features from OMIM:

254300

Human phenotypes related to Myasthenic Syndrome, Congenital, 10:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 ophthalmoparesis 32 occasional (7.5%) HP:0000597
3 bulbar palsy 32 HP:0001283
4 decreased fetal movement 32 occasional (7.5%) HP:0001558
5 waddling gait 32 HP:0002515
6 abnormality of the immune system 32 HP:0002715
7 respiratory insufficiency due to muscle weakness 32 HP:0002747
8 easy fatigability 32 HP:0003388
9 gowers sign 32 HP:0003391
10 muscle cramps 32 HP:0003394
11 fatigable weakness 32 HP:0003473
12 distal amyotrophy 32 HP:0003693
13 proximal amyotrophy 32 HP:0007126
14 mildly elevated creatine phosphokinase 32 HP:0008180
15 facial palsy 32 HP:0010628

UMLS symptoms related to Myasthenic Syndrome, Congenital, 10:


facial paresis

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, 10

Search Clinical Trials , NIH Clinical Center for Myasthenic Syndrome, Congenital, 10

Genetic Tests for Myasthenic Syndrome, Congenital, 10

Genetic tests related to Myasthenic Syndrome, Congenital, 10:

# Genetic test Affiliating Genes
1 Myasthenia, Limb-Girdle, Familial 29 DOK7

Anatomical Context for Myasthenic Syndrome, Congenital, 10

Publications for Myasthenic Syndrome, Congenital, 10

Articles related to Myasthenic Syndrome, Congenital, 10:

# Title Authors Year
1
Immune-mediated rippling muscle disease: another inflammatory myopathy in myasthenia gravis. ( 20625103 )
2010

Variations for Myasthenic Syndrome, Congenital, 10

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

75 (show all 19)
# Symbol AA change Variation ID SNP ID
1 DOK7 p.Gly180Ala VAR_027544 rs118203994
2 DOK7 p.Arg158Gln VAR_031246 rs6811423
3 DOK7 p.Glu3Lys VAR_068750 rs763233743
4 DOK7 p.Pro31Thr VAR_068751
5 DOK7 p.Ala33Val VAR_068752
6 DOK7 p.Thr77Met VAR_068754 rs940346413
7 DOK7 p.Gly109Cys VAR_068756
8 DOK7 p.Val116Met VAR_068757
9 DOK7 p.His132Gln VAR_068758
10 DOK7 p.Val139Leu VAR_068759
11 DOK7 p.Pro146Leu VAR_068760 rs770987150
12 DOK7 p.Leu157Arg VAR_068761
13 DOK7 p.Gly161Arg VAR_068762 rs758131044
14 DOK7 p.Gly166Arg VAR_068763 rs781227659
15 DOK7 p.Gly171Asp VAR_068764
16 DOK7 p.Gly171Arg VAR_068765
17 DOK7 p.Gly172Arg VAR_068766 rs768892432
18 DOK7 p.Gly180Val VAR_068767
19 DOK7 p.Pro469His VAR_068773 rs147185207

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

6
(show top 50) (show all 173)
# Gene Variation Type Significance SNP ID Assembly Location
1 DOK7 NM_173660.4(DOK7): c.1124_1127dupTGCC (p.Ala378Serfs) duplication Pathogenic rs606231128 GRCh38 Chromosome 4, 3493110: 3493113
2 DOK7 NM_173660.4(DOK7): c.1124_1127dupTGCC (p.Ala378Serfs) duplication Pathogenic rs606231128 GRCh37 Chromosome 4, 3494837: 3494840
3 DOK7 NM_173660.4(DOK7): c.1263dupC (p.Ser422Leufs) duplication Pathogenic rs606231129 GRCh38 Chromosome 4, 3493249: 3493249
4 DOK7 NM_173660.4(DOK7): c.1263dupC (p.Ser422Leufs) duplication Pathogenic rs606231129 GRCh37 Chromosome 4, 3494976: 3494976
5 DOK7 NM_173660.4(DOK7): c.548_551delTCCT (p.Phe183Cysfs) deletion Pathogenic rs606231130 GRCh38 Chromosome 4, 3485554: 3485557
6 DOK7 NM_173660.4(DOK7): c.548_551delTCCT (p.Phe183Cysfs) deletion Pathogenic rs606231130 GRCh37 Chromosome 4, 3487281: 3487284
7 DOK7 NM_173660.4(DOK7): c.1339_1342dupCTGG (p.Gly448Alafs) duplication Pathogenic rs606231131 GRCh38 Chromosome 4, 3493325: 3493328
8 DOK7 NM_173660.4(DOK7): c.1339_1342dupCTGG (p.Gly448Alafs) duplication Pathogenic rs606231131 GRCh37 Chromosome 4, 3495052: 3495055
9 DOK7 NM_173660.4(DOK7): c.1143dupC (p.Glu382Argfs) duplication Pathogenic rs606231132 GRCh38 Chromosome 4, 3493129: 3493129
10 DOK7 NM_173660.4(DOK7): c.1143dupC (p.Glu382Argfs) duplication Pathogenic rs606231132 GRCh37 Chromosome 4, 3494856: 3494856
11 DOK7 NM_173660.4(DOK7): c.539G> C (p.Gly180Ala) single nucleotide variant Pathogenic rs118203994 GRCh37 Chromosome 4, 3487272: 3487272
12 DOK7 NM_173660.4(DOK7): c.539G> C (p.Gly180Ala) single nucleotide variant Pathogenic rs118203994 GRCh38 Chromosome 4, 3485545: 3485545
13 DOK7 NM_173660.4(DOK7): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs118203995 GRCh37 Chromosome 4, 3487334: 3487334
14 DOK7 NM_173660.4(DOK7): c.601C> T (p.Arg201Ter) single nucleotide variant Pathogenic rs118203995 GRCh38 Chromosome 4, 3485607: 3485607
15 DOK7 NM_173660.4(DOK7): c.55-1G> T single nucleotide variant Pathogenic rs863223277 GRCh38 Chromosome 4, 3463505: 3463505
16 DOK7 NM_173660.4(DOK7): c.55-1G> T single nucleotide variant Pathogenic rs863223277 GRCh37 Chromosome 4, 3465232: 3465232
17 DOK7 DOK7, IVS3DS, G-T, +1 single nucleotide variant Pathogenic
18 DOK7 NM_173660.4(DOK7): c.1378dupC (p.Gln460Profs) duplication Pathogenic rs606231133 GRCh38 Chromosome 4, 3493364: 3493364
19 DOK7 NM_173660.4(DOK7): c.1378dupC (p.Gln460Profs) duplication Pathogenic rs606231133 GRCh37 Chromosome 4, 3495091: 3495091
20 DOK7 NM_173660.4(DOK7): c.331+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs370879328 GRCh37 Chromosome 4, 3475372: 3475372
21 DOK7 NM_173660.4(DOK7): c.331+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs370879328 GRCh38 Chromosome 4, 3473645: 3473645
22 DOK7 NM_173660.4(DOK7): c.134C> T (p.Ser45Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs62272670 GRCh37 Chromosome 4, 3475166: 3475166
23 DOK7 NM_173660.4(DOK7): c.134C> T (p.Ser45Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs62272670 GRCh38 Chromosome 4, 3473439: 3473439
24 DOK7 NM_173660.4(DOK7): c.1403_1408delGCCCTG (p.Gly468_Pro469del) deletion Uncertain significance rs794727883 GRCh37 Chromosome 4, 3495116: 3495121
25 DOK7 NM_173660.4(DOK7): c.1403_1408delGCCCTG (p.Gly468_Pro469del) deletion Uncertain significance rs794727883 GRCh38 Chromosome 4, 3493389: 3493394
26 DOK7 NM_173660.4(DOK7): c.957delC (p.Lys320Serfs) deletion Pathogenic rs794727884 GRCh37 Chromosome 4, 3494670: 3494670
27 DOK7 NM_173660.4(DOK7): c.957delC (p.Lys320Serfs) deletion Pathogenic rs794727884 GRCh38 Chromosome 4, 3492943: 3492943
28 DOK7 NM_173660.4(DOK7): c.1138dupG (p.Ala380Glyfs) duplication Pathogenic rs761899995 GRCh37 Chromosome 4, 3494851: 3494851
29 DOK7 NM_173660.4(DOK7): c.1138dupG (p.Ala380Glyfs) duplication Pathogenic rs761899995 GRCh38 Chromosome 4, 3493124: 3493124
30 DOK7 NM_173660.4(DOK7): c.1476_1485dupTCCAGTCTGT (p.Gly496Serfs) duplication Pathogenic rs797045040 GRCh37 Chromosome 4, 3495189: 3495198
31 DOK7 NM_173660.4(DOK7): c.1476_1485dupTCCAGTCTGT (p.Gly496Serfs) duplication Pathogenic rs797045040 GRCh38 Chromosome 4, 3493462: 3493471
32 DOK7 NM_173660.4(DOK7): c.596delT (p.Ile199Thrfs) deletion Pathogenic rs797045528 GRCh38 Chromosome 4, 3485602: 3485602
33 DOK7 NM_173660.4(DOK7): c.596delT (p.Ile199Thrfs) deletion Pathogenic rs797045528 GRCh37 Chromosome 4, 3487329: 3487329
34 DOK7 NM_173660.4(DOK7): c.1263delC (p.Ser422Hisfs) deletion no interpretation for the single variant rs863224866 GRCh38 Chromosome 4, 3493249: 3493249
35 DOK7 NM_173660.4(DOK7): c.1263delC (p.Ser422Hisfs) deletion no interpretation for the single variant rs863224866 GRCh37 Chromosome 4, 3494976: 3494976
36 DOK7 NM_173660.4(DOK7): c.761C> T (p.Pro254Leu) single nucleotide variant Uncertain significance rs200407250 GRCh37 Chromosome 4, 3491512: 3491512
37 DOK7 NM_173660.4(DOK7): c.761C> T (p.Pro254Leu) single nucleotide variant Uncertain significance rs200407250 GRCh38 Chromosome 4, 3489785: 3489785
38 DOK7 NM_173660.4(DOK7): c.282C> T (p.His94=) single nucleotide variant Likely benign rs377025553 GRCh38 Chromosome 4, 3473587: 3473587
39 DOK7 NM_173660.4(DOK7): c.282C> T (p.His94=) single nucleotide variant Likely benign rs377025553 GRCh37 Chromosome 4, 3475314: 3475314
40 DOK7 NM_173660.4(DOK7): c.921C> T (p.Ala307=) single nucleotide variant Benign/Likely benign rs138148221 GRCh38 Chromosome 4, 3492907: 3492907
41 DOK7 NM_173660.4(DOK7): c.921C> T (p.Ala307=) single nucleotide variant Benign/Likely benign rs138148221 GRCh37 Chromosome 4, 3494634: 3494634
42 DOK7 NM_173660.4(DOK7): c.1091G> A (p.Arg364Gln) single nucleotide variant Benign rs201304841 GRCh37 Chromosome 4, 3494804: 3494804
43 DOK7 NM_173660.4(DOK7): c.1091G> A (p.Arg364Gln) single nucleotide variant Benign rs201304841 GRCh38 Chromosome 4, 3493077: 3493077
44 DOK7 NM_173660.4(DOK7): c.1204C> T (p.Arg402Trp) single nucleotide variant Benign rs149905649 GRCh38 Chromosome 4, 3493190: 3493190
45 DOK7 NM_173660.4(DOK7): c.1204C> T (p.Arg402Trp) single nucleotide variant Benign rs149905649 GRCh37 Chromosome 4, 3494917: 3494917
46 DOK7 NM_173660.4(DOK7): c.1469C> T (p.Ser490Leu) single nucleotide variant Benign rs77513082 GRCh37 Chromosome 4, 3495182: 3495182
47 DOK7 NM_173660.4(DOK7): c.1469C> T (p.Ser490Leu) single nucleotide variant Benign rs77513082 GRCh38 Chromosome 4, 3493455: 3493455
48 DOK7 NM_173660.4(DOK7): c.1029C> T (p.Gly343=) single nucleotide variant Conflicting interpretations of pathogenicity rs375877997 GRCh37 Chromosome 4, 3494742: 3494742
49 DOK7 NM_173660.4(DOK7): c.1029C> T (p.Gly343=) single nucleotide variant Conflicting interpretations of pathogenicity rs375877997 GRCh38 Chromosome 4, 3493015: 3493015
50 DOK7 NM_173660.4(DOK7): c.1278C> T (p.Pro426=) single nucleotide variant Conflicting interpretations of pathogenicity rs139468087 GRCh37 Chromosome 4, 3494991: 3494991

Expression for Myasthenic Syndrome, Congenital, 10

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

Pathways for Myasthenic Syndrome, Congenital, 10

Pathways related to Myasthenic Syndrome, Congenital, 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 MT-TC MT-TD MT-TG MT-TT
2 11.09 GLS2 MT-CO1
3 10.85 MT-CO1 MT-CYB

GO Terms for Myasthenic Syndrome, Congenital, 10

Cellular components related to Myasthenic Syndrome, Congenital, 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory chain GO:0070469 8.96 MT-CO1 MT-CYB
2 mitochondrial respiratory chain complex III GO:0005750 8.62 MT-CO1 MT-CYB

Biological processes related to Myasthenic Syndrome, Congenital, 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory electron transport chain GO:0022904 9.16 MT-CO1 MT-CYB
2 response to copper ion GO:0046688 8.96 MT-CO1 MT-CYB
3 electron transport coupled proton transport GO:0015990 8.62 MT-CO1 MT-CYB

Molecular functions related to Myasthenic Syndrome, Congenital, 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 8.62 MT-CO1 MT-CYB

Sources for Myasthenic Syndrome, Congenital, 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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38 LifeMap
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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