CMS10
MCID: MYS052
MIFTS: 44

Myasthenic Syndrome, Congenital, 10 (CMS10)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Myasthenic Syndrome, Congenital, 10

MalaCards integrated aliases for Myasthenic Syndrome, Congenital, 10:

Name: Myasthenic Syndrome, Congenital, 10 57 72
Myasthenia, Limb-Girdle, Familial 72 29 13 6
Cms10 57 12 72
Congenital Myasthenic Syndrome 10 12 15
Lgm 12 72
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 39
Congenital Myasthenic Syndrome Type 1b 72
Congenital Myasthenic Syndrome Type Ib 72
Congenital Myasthenic Syndrome Ib 70
Familial Limb-Girdle Myasthenia 12
Myasthenic Myopathy, Formerly 57
Myopathy in Myasthenia Gravis 70
Myasthenic Myopathy 72
Cms Ib, Formerly 57
Cms1b, Formerly 57
Lgm, Formerly 57
Cms Ib 72
Cms1b 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
myasthenic syndrome, congenital, 10:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110668
OMIM® 57 254300
OMIM Phenotypic Series 57 PS601462
MeSH 44 D020294
MedGen 41 C1850792
UMLS 70 C0393946 C1850792

Summaries for Myasthenic Syndrome, Congenital, 10

UniProtKB/Swiss-Prot : 72 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 myopathy and myasthenic syndrome, congenital, 1b, fast-channel, 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 Prion disease and Cardiac muscle contraction. Related phenotypes are decreased fetal movement and ophthalmoparesis

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.

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) (Updated 05-Apr-2021)

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 top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 myopathy 28.5 MT-TT MT-TK MT-TF MT-ND2 MT-CYB MT-CO3
2 myasthenic syndrome, congenital, 1b, fast-channel 11.4
3 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 11.0
4 oesophagostomiasis 10.4 MT-CYB MT-CO1
5 sparganosis 10.3 MT-CYB MT-CO1
6 pediculus humanus corporis infestation 10.3 MT-CYB MT-CO1
7 trench fever 10.3 MT-TT MT-CYB
8 bartonellosis 10.3 MT-CYB MT-CO1
9 pulmonary embolism 10.3
10 neuromuscular junction disease 10.3 MT-CYB DOK7 ANKRD49
11 ophthalmomyiasis 10.3 MT-CYB MT-CO1
12 mucocutaneous leishmaniasis 10.3 MT-CYB H2AC18
13 fasciolopsiasis 10.3 MT-TT MT-TC
14 taeniasis 10.3 MT-CYB MT-CO1
15 myasthenic syndrome, congenital, 12 10.3
16 thelaziasis 10.2 MT-ND2 MT-CYB MT-CO1
17 periodic fever, familial, autosomal dominant 10.2 MT-CYB MT-CO1 H2AC18
18 babesiosis 10.2 MT-CYB MT-CO1
19 carbuncle 10.2 MT-TT MT-TH
20 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 10.2 MT-CYB H2AC18
21 parasitic protozoa infectious disease 10.2 MT-CYB MT-CO1 H2AC18
22 myiasis 10.2 MT-CYB MT-CO2 MT-CO1
23 lipomatosis, multiple symmetric 10.2 MT-TT MT-TC
24 amelogenesis imperfecta, type iv 10.2 MT-CYB MT-CO1
25 familial colorectal cancer 10.2 MT-CYB MT-CO2 MT-CO1
26 hermaphroditism 10.2 MT-TT MT-TH MT-TF
27 deafness, nonsyndromic sensorineural, mitochondrial 10.2 MT-TH MT-CO1
28 myasthenia gravis 10.1
29 leukorrhea 10.1 MT-TK MT-TG
30 speech disorder 10.1 MT-CYB H2AC18 ARHGDIA
31 chronic thromboembolic pulmonary hypertension 10.1
32 neuromuscular disease 10.1 MT-CYB H2AC18 DOK7 ANKRD49
33 parkinson disease, mitochondrial 10.1 MT-TT MT-TK
34 mitochondrial dna-associated leigh syndrome 10.1 MT-TK MT-ND2
35 mitochondrial dna-associated leigh syndrome and narp 10.1 MT-TK MT-ND2
36 baylisascariasis 10.1 MT-ND2 MT-CYB MT-CO2 MT-CO1
37 cardiomyopathy, infantile histiocytoid 10.1 MT-TT MT-CYB
38 thymoma, familial 10.0
39 thymoma 10.0
40 muscular dystrophy 10.0
41 mixed malaria 10.0 MT-CYB MT-CO3
42 retinitis pigmentosa 20 10.0 MT-TK H2AC18
43 severe congenital neutropenia 1 10.0 MT-ND2 MT-CO3
44 stuttering 10.0 MT-TH MT-CYB MT-CO1 ARHGDIA
45 retinitis pigmentosa 14 10.0 MT-TT MT-TK MT-TG
46 genetic recurrent myoglobinuria 10.0 MT-CO3 MT-CO1
47 hereditary optic neuropathy 9.9 MT-ND2 MT-CYB MT-CO3
48 myoglobinuria 9.9 MT-CYB MT-CO3 MT-CO1
49 anorexia nervosa 9.9
50 progressive muscular dystrophy 9.9

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

Human phenotypes related to Myasthenic Syndrome, Congenital, 10:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 decreased fetal movement 31 occasional (7.5%) HP:0001558
2 ophthalmoparesis 31 occasional (7.5%) HP:0000597
3 ptosis 31 HP:0000508
4 facial palsy 31 HP:0010628
5 waddling gait 31 HP:0002515
6 respiratory insufficiency due to muscle weakness 31 HP:0002747
7 easy fatigability 31 HP:0003388
8 abnormality of the immune system 31 HP:0002715
9 proximal amyotrophy 31 HP:0007126
10 mildly elevated creatine kinase 31 HP:0008180
11 distal amyotrophy 31 HP:0003693
12 fatigable weakness 31 HP:0003473
13 muscle spasm 31 HP:0003394
14 bulbar palsy 31 HP:0001283
15 gowers sign 31 HP:0003391

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

(show all 30)
# Title Authors PMID Year
1
Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction. 6 57
25237101 2014
2
Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7. 57 6
20458068 2010
3
Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. 6 57
18626973 2008
4
Dok-7 mutations underlie a neuromuscular junction synaptopathy. 57 6
16917026 2006
5
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence. 61 6
31880392 2020
6
Congenital myasthenic syndromes in Turkey: Clinical clues and prognosis with long term follow-up. 6
29395675 2018
7
DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency. 6
28716243 2017
8
Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile. 6
29118959 2017
9
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
10
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 57
25792100 2015
11
Molecular findings among patients referred for clinical whole-exome sequencing. 6
25326635 2014
12
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation. 6
23790237 2013
13
Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations. 6
23219351 2013
14
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. 6
22661499 2012
15
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. 57
22742743 2012
16
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays. 6
21850686 2011
17
LOVD v.2.0: the next generation in gene variant databases. 6
21520333 2011
18
Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome. 6
20554332 2010
19
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes. 57
20147321 2010
20
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. 6
20012313 2010
21
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. 6
19837590 2009
22
Germline mutation in DOK7 associated with fetal akinesia deformation sequence. 6
19261599 2009
23
Variable phenotypes associated with mutations in DOK7. 6
18161030 2008
24
Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7. 6
18165682 2008
25
Clinical features of the DOK7 neuromuscular junction synaptopathy. 6
17452375 2007
26
Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'. 57
16870884 2006
27
The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. 57
16794080 2006
28
Autosomal recessive limb girdle myasthenia in two sisters. 57
12577107 2002
29
[Isolated proximal muscular weakness disclosing myasthenic syndrome]. 57
7878325 1994
30
Rheological aspects of red blood cell aggregation. 6
2261499 1990

Variations for Myasthenic Syndrome, Congenital, 10

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

6 (show top 50) (show all 308)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DOK7 NC_000004.12:g.(?_3463366)_(3493511_?)del Deletion Pathogenic 831089 GRCh37: 4:3465093-3495238
GRCh38:
2 DOK7 NC_000004.12:g.(?_3485529)_(3485668_?)del Deletion Pathogenic 832528 GRCh37: 4:3487256-3487395
GRCh38:
3 DOK7 NC_000004.12:g.(?_3473386)_(3489816_?)del Deletion Pathogenic 465668 GRCh37: 4:3475113-3491543
GRCh38: 4:3473386-3489816
4 DOK7 NC_000004.12:g.(?_3485519)_(3493521_?)del Deletion Pathogenic 465669 GRCh37: 4:3487246-3495248
GRCh38: 4:3485519-3493521
5 DOK7 NC_000004.12:g.(?_3485529)_(3493511_?)del Deletion Pathogenic 644832 GRCh37: 4:3487256-3495238
GRCh38: 4:3485529-3493511
6 DOK7 NM_173660.5(DOK7):c.548_551del (p.Phe183fs) Deletion Pathogenic 1275 rs606231130 GRCh37: 4:3487279-3487282
GRCh38: 4:3485552-3485555
7 DOK7 NM_173660.5(DOK7):c.1331_1334CTGG[4] (p.Gly448fs) Microsatellite Pathogenic 1276 rs606231131 GRCh37: 4:3495043-3495044
GRCh38: 4:3493316-3493317
8 DOK7 NM_173660.5(DOK7):c.539G>C (p.Gly180Ala) SNV Pathogenic 1278 rs118203994 GRCh37: 4:3487272-3487272
GRCh38: 4:3485545-3485545
9 DOK7 NM_173660.5(DOK7):c.601C>T (p.Arg201Ter) SNV Pathogenic 1279 rs118203995 GRCh37: 4:3487334-3487334
GRCh38: 4:3485607-3485607
10 DOK7 NM_173660.5(DOK7):c.55-1G>T SNV Pathogenic 1280 rs863223277 GRCh37: 4:3465232-3465232
GRCh38: 4:3463505-3463505
11 DOK7 NM_173660.5(DOK7):c.1378dup (p.Gln460fs) Duplication Pathogenic 1282 rs606231133 GRCh37: 4:3495085-3495086
GRCh38: 4:3493358-3493359
12 DOK7 NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) Duplication Pathogenic 209148 rs797045040 GRCh37: 4:3495188-3495189
GRCh38: 4:3493461-3493462
13 DOK7 NM_173660.5(DOK7):c.596del (p.Ile199fs) Deletion Pathogenic 210856 rs797045528 GRCh37: 4:3487329-3487329
GRCh38: 4:3485602-3485602
14 DOK7 NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs) Duplication Pathogenic 434960 rs1553850100 GRCh37: 4:3494733-3494734
GRCh38: 4:3493006-3493007
15 DOK7 NM_173660.5(DOK7):c.1331_1334CTGG[4] (p.Gly448fs) Microsatellite Pathogenic 1276 rs606231131 GRCh37: 4:3495043-3495044
GRCh38: 4:3493316-3493317
16 DOK7 NM_173660.5(DOK7):c.199C>T (p.Pro67Ser) SNV Pathogenic 544694 rs1553846331 GRCh37: 4:3475231-3475231
GRCh38: 4:3473504-3473504
17 DOK7 NM_173660.5(DOK7):c.1061C>T (p.Ser354Phe) SNV Pathogenic 544830 rs756015202 GRCh37: 4:3494774-3494774
GRCh38: 4:3493047-3493047
18 DOK7 NM_173660.5(DOK7):c.743_744TC[4] (p.His250fs) Microsatellite Pathogenic 583395 rs1560224831 GRCh37: 4:3491492-3491493
GRCh38: 4:3489765-3489766
19 DOK7 NM_173660.5(DOK7):c.28del (p.Gln10fs) Deletion Pathogenic 654355 rs1560200925 GRCh37: 4:3465129-3465129
GRCh38: 4:3463402-3463402
20 DOK7 NM_173660.5(DOK7):c.483_484dup (p.Ala162fs) Duplication Pathogenic 812703 rs1577153124 GRCh37: 4:3478217-3478218
GRCh38: 4:3476490-3476491
21 DOK7 NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) Deletion Pathogenic 813360 rs778172294 GRCh37: 4:3495001-3495016
GRCh38: 4:3493274-3493289
22 DOK7 NM_173660.5(DOK7):c.810_811del (p.His272fs) Deletion Pathogenic 841000 GRCh37: 4:3494523-3494524
GRCh38: 4:3492796-3492797
23 DOK7 NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs) Duplication Pathogenic 854520 GRCh37: 4:3495120-3495121
GRCh38: 4:3493393-3493394
24 DOK7 NM_173660.5(DOK7):c.457A>T (p.Lys153Ter) SNV Pathogenic 853396 GRCh37: 4:3478194-3478194
GRCh38: 4:3476467-3476467
25 DOK7 NM_173660.5(DOK7):c.925del (p.Glu309fs) Deletion Pathogenic 934350 GRCh37: 4:3494635-3494635
GRCh38: 4:3492908-3492908
26 DOK7 NM_173660.5(DOK7):c.1143dup (p.Glu382fs) Duplication Pathogenic 1277 rs606231132 GRCh37: 4:3494851-3494852
GRCh38: 4:3493124-3493125
27 DOK7 NM_173660.5(DOK7):c.331+1G>T SNV Pathogenic 449547 rs1349476281 GRCh37: 4:3475364-3475364
GRCh38: 4:3473637-3473637
28 DOK7 NM_173660.5(DOK7):c.1138dup (p.Ala380fs) Duplication Pathogenic 209149 rs761899995 GRCh37: 4:3494846-3494847
GRCh38: 4:3493119-3493120
29 DOK7 NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter) SNV Pathogenic 950584 GRCh37: 4:3478217-3478217
GRCh38: 4:3476490-3476490
30 DOK7 NM_173660.5(DOK7):c.1138dup (p.Ala380fs) Duplication Pathogenic 209149 rs761899995 GRCh37: 4:3494846-3494847
GRCh38: 4:3493119-3493120
31 DOK7 NM_173660.5(DOK7):c.513C>T (p.Gly171=) SNV Pathogenic 429791 rs775583136 GRCh37: 4:3478250-3478250
GRCh38: 4:3476523-3476523
32 DOK7 NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) SNV Pathogenic 560991 rs758131044 GRCh37: 4:3478218-3478218
GRCh38: 4:3476491-3476491
33 DOK7 NM_173660.5(DOK7):c.1263dup (p.Ser422fs) Duplication Pathogenic 1274 rs606231129 GRCh37: 4:3494969-3494970
GRCh38: 4:3493242-3493243
34 DOK7 NM_173660.5(DOK7):c.513C>T (p.Gly171=) SNV Pathogenic 429791 rs775583136 GRCh37: 4:3478250-3478250
GRCh38: 4:3476523-3476523
35 DOK7 NM_173660.5(DOK7):c.54+25_55-38del Deletion Pathogenic 835508 GRCh37: 4:3465170-3465184
GRCh38: 4:3463443-3463457
36 DOK7 NM_173660.5(DOK7):c.1263dup (p.Ser422fs) Duplication Pathogenic 1274 rs606231129 GRCh37: 4:3494969-3494970
GRCh38: 4:3493242-3493243
37 DOK7 NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) Duplication Pathogenic 1273 rs606231128 GRCh37: 4:3494833-3494834
GRCh38: 4:3493106-3493107
38 DOK7 NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) Duplication Pathogenic 1273 rs606231128 GRCh37: 4:3494833-3494834
GRCh38: 4:3493106-3493107
39 DOK7 NM_173660.5(DOK7):c.752C>A (p.Ala251Glu) SNV Pathogenic 1027869 GRCh37: 4:3491503-3491503
GRCh38: 4:3489776-3489776
40 DOK7 NM_173660.5(DOK7):c.653-1G>C SNV Pathogenic 1033205 GRCh37: 4:3491403-3491403
GRCh38: 4:3489676-3489676
41 DOK7 NM_173660.5(DOK7):c.957dup (p.Lys320fs) Duplication Pathogenic 465693 rs794727884 GRCh37: 4:3494664-3494665
GRCh38: 4:3492937-3492938
42 DOK7 NM_173660.5(DOK7):c.957dup (p.Lys320fs) Duplication Likely pathogenic 465693 rs794727884 GRCh37: 4:3494664-3494665
GRCh38: 4:3492937-3492938
43 DOK7 NM_173660.5(DOK7):c.1263dup (p.Ser422fs) Duplication Likely pathogenic 1274 rs606231129 GRCh37: 4:3494969-3494970
GRCh38: 4:3493242-3493243
44 DOK7 NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs) Duplication Likely pathogenic 209148 rs797045040 GRCh37: 4:3495188-3495189
GRCh38: 4:3493461-3493462
45 DOK7 NM_173660.5(DOK7):c.652+1dup Duplication Likely pathogenic 966748 GRCh37: 4:3487384-3487385
GRCh38: 4:3485657-3485658
46 DOK7 NM_173660.5(DOK7):c.439del (p.Ala147fs) Deletion Likely pathogenic 804439 rs1577153029 GRCh37: 4:3478175-3478175
GRCh38: 4:3476448-3476448
47 DOK7 NM_173660.5(DOK7):c.773-2_773-1del Deletion Likely pathogenic 804440 rs770163440 GRCh37: 4:3494484-3494485
GRCh38: 4:3492757-3492758
48 DOK7 NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter) SNV Likely pathogenic 647698 rs544278158 GRCh37: 4:3494928-3494928
GRCh38: 4:3493201-3493201
49 DOK7 NM_173660.5(DOK7):c.1264del (p.Ser422fs) Deletion Likely pathogenic 645324 rs1258346283 GRCh37: 4:3494977-3494977
GRCh38: 4:3493250-3493250
50 DOK7 NM_173660.5(DOK7):c.1378dup (p.Gln460fs) Duplication Likely pathogenic 1282 rs606231133 GRCh37: 4:3495085-3495086
GRCh38: 4:3493358-3493359

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

72 (show all 19)
# Symbol AA change Variation ID SNP ID
1 DOK7 p.Gly180Ala VAR_027544 rs118203994
2 DOK7 p.Arg158Gln VAR_031246 rs754633490
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 rs142942859
9 DOK7 p.His132Gln VAR_068758
10 DOK7 p.Val139Leu VAR_068759 rs571769859
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 rs128661952
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

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
12.37 MT-ND2 MT-CYB MT-CO3 MT-CO2 MT-CO1
2 11.4 MT-CYB MT-CO3 MT-CO2 MT-CO1
3
Show member pathways
11.34 MT-TT MT-TK MT-TH MT-TG MT-TF MT-TC
4 11.19 MT-CO3 MT-CO2 MT-CO1 GLS2

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 mitochondrion GO:0005739 9.87 MT-ND2 MT-CYB MT-CO3 MT-CO2 MT-CO1 GLS2
2 mitochondrial inner membrane GO:0005743 9.55 MT-ND2 MT-CYB MT-CO3 MT-CO2 MT-CO1
3 mitochondrial respiratory chain complex III GO:0005750 9.26 MT-CYB MT-CO1
4 respiratory chain GO:0070469 9.26 MT-ND2 MT-CYB MT-CO2 MT-CO1
5 respiratory chain complex IV GO:0045277 8.8 MT-CO3 MT-CO2 MT-CO1

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.5 MT-CO3 MT-CO2 MT-CO1
2 aerobic respiration GO:0009060 9.37 MT-CO3 MT-CO1
3 response to copper ion GO:0046688 9.26 MT-CYB MT-CO1
4 electron transport coupled proton transport GO:0015990 9.16 MT-CYB MT-CO1
5 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.13 MT-CO3 MT-CO2 MT-CO1
6 respiratory electron transport chain GO:0022904 8.8 MT-CYB MT-CO3 MT-CO1

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

# Name GO ID Score Top Affiliating Genes
1 lysozyme activity GO:0003796 8.96 LYZL6 LYZL1
2 cytochrome-c oxidase activity GO:0004129 8.8 MT-CO3 MT-CO2 MT-CO1

Sources for Myasthenic Syndrome, Congenital, 10

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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