MCID: PRS124
MIFTS: 36

Presynaptic Congenital Myasthenic Syndromes

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

Aliases & Classifications for Presynaptic Congenital Myasthenic Syndromes

MalaCards integrated aliases for Presynaptic Congenital Myasthenic Syndromes:

Name: Presynaptic Congenital Myasthenic Syndromes 58
Congenital Myasthenic Syndromes, Presynaptic 71
Presynaptic Congenital Myasthenic Syndrome 6

Characteristics:

Orphanet epidemiological data:

58
presynaptic congenital myasthenic syndromes
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Presynaptic Congenital Myasthenic Syndromes

MalaCards based summary : Presynaptic Congenital Myasthenic Syndromes, also known as congenital myasthenic syndromes, presynaptic, is related to ptosis and congenital myasthenic syndrome. An important gene associated with Presynaptic Congenital Myasthenic Syndromes is AGRN (Agrin), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neurotransmitter Release Cycle. Affiliated tissues include eye, and related phenotypes are dysphagia and ptosis

Related Diseases for Presynaptic Congenital Myasthenic Syndromes

Diseases in the Presynaptic Congenital Myasthenic Syndromes family:

Myasthenic Syndrome, Congenital, 6, Presynaptic Myasthenic Syndrome, Congenital, 7, Presynaptic
Myasthenic Syndrome, Congenital, 20, Presynaptic Myasthenic Syndrome, Congenital, 21, Presynaptic
Myasthenic Syndrome, Congenital, 23, Presynaptic Myasthenic Syndrome, Congenital, 24, Presynaptic
Myasthenic Syndrome, Congenital, 25, Presynaptic

Diseases related to Presynaptic Congenital Myasthenic Syndromes via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 ptosis 28.3 SNAP25 SLC5A7 SLC18A3 COL13A1 CHAT AGRN
2 congenital myasthenic syndrome 26.4 VAMP1 SYT2 SNAP25 SLC5A7 SLC25A1 SLC18A3
3 myasthenic syndrome, congenital, 6, presynaptic 11.8
4 ataxia and polyneuropathy, adult-onset 10.1
5 joint laxity, short stature, and myopia 10.1
6 myasthenic syndrome, congenital, 25, presynaptic 10.1
7 lambert-eaton myasthenic syndrome 10.1
8 myopia 10.1
9 tic disorder 10.1
10 movement disease 10.1
11 learning disability 10.1
12 pathologic nystagmus 10.1
13 muscular dystrophy 10.1
14 tremor 10.1
15 postsynaptic congenital myasthenic syndromes 10.0 COL13A1 AGRN
16 congenital myasthenic syndrome with episodic apnea 10.0 SLC5A7 CHAT
17 tendinosis 9.9 SLC18A3 CHAT
18 myasthenic syndrome, congenital, 21, presynaptic 9.8 SLC18A3 CHAT AGRN
19 neuromuscular disease 9.3 SYT2 CHAT AGRN
20 neuromuscular junction disease 9.3 SYT2 COL13A1 CHAT AGRN
21 benign familial infantile epilepsy 9.2 SYT2 SNAP25
22 infant botulism 9.1 VAMP1 SYT2 SNAP25
23 foodborne botulism 9.1 VAMP1 SYT2 SNAP25

Graphical network of the top 20 diseases related to Presynaptic Congenital Myasthenic Syndromes:



Diseases related to Presynaptic Congenital Myasthenic Syndromes

Symptoms & Phenotypes for Presynaptic Congenital Myasthenic Syndromes

Human phenotypes related to Presynaptic Congenital Myasthenic Syndromes:

58 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
2 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
3 poor suck 58 31 hallmark (90%) Very frequent (99-80%) HP:0002033
4 proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003701
5 fatigable weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003473
6 neck muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000467
7 sudden episodic apnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002882
8 intermittent episodes of respiratory insufficiency due to muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0004889
9 frontalis muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0004661
10 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
11 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
12 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
13 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
14 easy fatigability 58 31 frequent (33%) Frequent (79-30%) HP:0003388
15 ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000602
16 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
17 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
18 arthrogryposis multiplex congenita 58 31 frequent (33%) Frequent (79-30%) HP:0002804
19 cyanosis 58 31 frequent (33%) Frequent (79-30%) HP:0000961
20 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
21 choking episodes 58 31 frequent (33%) Frequent (79-30%) HP:0030842
22 central sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0010536
23 bulbar palsy 58 31 frequent (33%) Frequent (79-30%) HP:0001283
24 muscle fiber atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100295
25 emg: impaired neuromuscular transmission 58 31 frequent (33%) Frequent (79-30%) HP:0100285
26 spinal deformities 58 31 frequent (33%) Frequent (79-30%) HP:0008443
27 apneic episodes precipitated by illness, fatigue, stress 58 31 frequent (33%) Frequent (79-30%) HP:0002872
28 episodic respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0004885
29 nasal regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0011469
30 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
31 waddling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002515
32 spinal rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003306
33 emg: myopathic abnormalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0003458
34 toe walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0040083
35 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
36 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
37 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
38 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
39 dysphonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001618
40 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
41 distal lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0009053
42 distal amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003693
43 poor head control 58 31 occasional (7.5%) Occasional (29-5%) HP:0002421
44 weak cry 58 31 occasional (7.5%) Occasional (29-5%) HP:0001612
45 stridor 58 31 occasional (7.5%) Occasional (29-5%) HP:0010307
46 central hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011398
47 limb-girdle muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003325
48 narrow jaw 58 31 occasional (7.5%) Occasional (29-5%) HP:0012801
49 seizure 31 occasional (7.5%) HP:0001250
50 pectus carinatum 58 31 very rare (1%) Very rare (<4-1%) HP:0000768

MGI Mouse Phenotypes related to Presynaptic Congenital Myasthenic Syndromes:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 AGRN CHAT COL13A1 MYO9A SLC18A3 SLC5A7
2 muscle MP:0005369 9.35 AGRN CHAT COL13A1 SLC18A3 SNAP25
3 nervous system MP:0003631 9.23 AGRN CHAT COL13A1 MYO9A SLC18A3 SLC5A7

Drugs & Therapeutics for Presynaptic Congenital Myasthenic Syndromes

Search Clinical Trials , NIH Clinical Center for Presynaptic Congenital Myasthenic Syndromes

Genetic Tests for Presynaptic Congenital Myasthenic Syndromes

Anatomical Context for Presynaptic Congenital Myasthenic Syndromes

MalaCards organs/tissues related to Presynaptic Congenital Myasthenic Syndromes:

40
Eye

Publications for Presynaptic Congenital Myasthenic Syndromes

Articles related to Presynaptic Congenital Myasthenic Syndromes:

(show all 15)
# Title Authors PMID Year
1
Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence. 61
32250532 2020
2
The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms. 61
30941097 2019
3
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. 61
29441694 2018
4
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. 61
29377152 2018
5
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. 61
29088354 2017
6
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. 61
28544784 2017
7
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. 61
28253535 2017
8
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. 61
27590285 2016
9
Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family. 61
26789281 2016
10
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. 61
26519543 2015
11
Genetics of strabismus and lid diseases. 61
27625884 2014
12
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. 61
25192047 2014
13
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. 61
24951643 2014
14
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. 61
12609506 2003
15
Presynaptic congenital myasthenic syndrome due to quantal release deficiency. 61
11468313 2001

Variations for Presynaptic Congenital Myasthenic Syndromes

ClinVar genetic disease variations for Presynaptic Congenital Myasthenic Syndromes:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYO9A NM_006901.4(MYO9A):c.1016A>G (p.Tyr339Cys)SNV Uncertain significance 585279 rs764921711 15:72313341-72313341 15:72021000-72021000

Expression for Presynaptic Congenital Myasthenic Syndromes

Search GEO for disease gene expression data for Presynaptic Congenital Myasthenic Syndromes.

Pathways for Presynaptic Congenital Myasthenic Syndromes

GO Terms for Presynaptic Congenital Myasthenic Syndromes

Cellular components related to Presynaptic Congenital Myasthenic Syndromes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.06 VAMP1 SYT2 SNAP25 SLC5A7 SLC25A1 SLC18A3
2 integral component of membrane GO:0016021 9.86 VAMP1 SYT2 SLC5A7 SLC25A1 SLC18A3 MYO9A
3 cell junction GO:0030054 9.5 VAMP1 SYT2 SNAP25 SLC5A7 MYO9A COL13A1
4 neuromuscular junction GO:0031594 9.46 VAMP1 SLC5A7
5 tertiary granule membrane GO:0070821 9.43 VAMP1 SNAP25
6 clathrin-coated vesicle membrane GO:0030665 9.37 SYT2 SLC18A3
7 presynapse GO:0098793 9.33 VAMP1 SLC5A7 CHAT
8 SNARE complex GO:0031201 9.32 VAMP1 SNAP25
9 synapse GO:0045202 9.23 VAMP1 SYT2 SNAP25 SLC5A7 MYO9A COL13A1

Biological processes related to Presynaptic Congenital Myasthenic Syndromes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle fusion GO:0006906 9.4 VAMP1 SNAP25
2 neuromuscular synaptic transmission GO:0007274 9.37 SLC5A7 CHAT
3 synaptic vesicle exocytosis GO:0016079 9.32 SYT2 SNAP25
4 synaptic vesicle priming GO:0016082 9.26 VAMP1 SNAP25
5 neurotransmitter biosynthetic process GO:0042136 9.16 SLC5A7 CHAT
6 neurotransmitter secretion GO:0007269 9.02 SYT2 SNAP25 SLC5A7 SLC18A3 CHAT
7 acetylcholine biosynthetic process GO:0008292 8.96 SLC5A7 CHAT

Molecular functions related to Presynaptic Congenital Myasthenic Syndromes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SNARE binding GO:0000149 9.26 SYT2 SNAP25
2 SNAP receptor activity GO:0005484 9.16 VAMP1 SNAP25
3 transmembrane transporter activity GO:0022857 9.13 SLC5A7 SLC25A1 SLC18A3
4 syntaxin binding GO:0019905 8.8 VAMP1 SYT2 SNAP25

Sources for Presynaptic Congenital Myasthenic Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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