MCID: PRS124
MIFTS: 38

Presynaptic Congenital Myasthenic Syndromes

Categories: Eye diseases, Fetal diseases, Genetic diseases, Muscle 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 70
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 ECM-receptor interaction. Affiliated tissues include eye, and related phenotypes are ptosis and dysphagia

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 29)
# Related Disease Score Top Affiliating Genes
1 ptosis 29.3 SNAP25 SLC5A7 SLC18A3 COL13A1 CHAT
2 congenital myasthenic syndrome 27.5 VAMP1 SYT2 SNAP25 SLC5A7 SLC25A1 SLC18A3
3 batten-turner congenital myopathy 10.1
4 myopathy 10.1
5 hypotonia 10.1
6 postsynaptic congenital myasthenic syndromes 10.1 COL13A1 AGRN
7 myasthenic syndrome, congenital, 6, presynaptic 10.1
8 ataxia and polyneuropathy, adult-onset 10.1
9 myasthenic syndrome, congenital, 25, presynaptic 10.1
10 lambert-eaton myasthenic syndrome 10.1
11 myopia 10.1
12 tic disorder 10.1
13 hyperglycemia 10.1
14 movement disease 10.1
15 learning disability 10.1
16 pathologic nystagmus 10.1
17 muscular dystrophy 10.1
18 tremor 10.1
19 congenital myasthenic syndrome with episodic apnea 10.1 SLC5A7 CHAT
20 tendinosis 10.1 SLC18A3 CHAT
21 myasthenic syndrome, congenital, 21, presynaptic 10.0 SLC18A3 CHAT AGRN
22 pierson syndrome 10.0 LAMA5 AGRN
23 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 9.8 VAMP1 CHAT
24 infant botulism 9.7 VAMP1 SYT2
25 neuromuscular disease 9.7 SYT2 CHAT AGRN
26 benign familial infantile epilepsy 9.6 SYT2 SNAP25
27 foodborne botulism 9.4 VAMP1 SYT2 SNAP25
28 neuromuscular junction disease 9.2 VAMP1 SYT2 COL13A1 CHAT AGRN
29 myasthenic syndrome, congenital, 19 9.1 SYT2 SNAP25 SLC5A7 SLC18A3 COL13A1 CHAT

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 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
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 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
12 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
13 easy fatigability 58 31 frequent (33%) Frequent (79-30%) HP:0003388
14 ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000602
15 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
16 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
17 arthrogryposis multiplex congenita 58 31 frequent (33%) Frequent (79-30%) HP:0002804
18 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
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 muscle fiber atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100295
23 central sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0010536
24 bulbar palsy 58 31 frequent (33%) Frequent (79-30%) HP:0001283
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 dysphonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001618
31 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
32 waddling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002515
33 spinal rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003306
34 emg: myopathic abnormalities 58 31 occasional (7.5%) Occasional (29-5%) HP:0003458
35 toe walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0040083
36 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
37 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
38 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
39 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
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 poor head control 58 31 occasional (7.5%) Occasional (29-5%) HP:0002421
43 weak cry 58 31 occasional (7.5%) Occasional (29-5%) HP:0001612
44 stridor 58 31 occasional (7.5%) Occasional (29-5%) HP:0010307
45 distal amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003693
46 limb-girdle muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003325
47 narrow jaw 58 31 occasional (7.5%) Occasional (29-5%) HP:0012801
48 seizure 31 occasional (7.5%) HP:0001250
49 hypotonia 31 occasional (7.5%) HP:0001252
50 nystagmus 58 31 very rare (1%) Very rare (<4-1%) HP:0000639

MGI Mouse Phenotypes related to Presynaptic Congenital Myasthenic Syndromes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 AGRN CHAT COL13A1 LAMA5 MYO9A SLC18A3
2 cardiovascular system MP:0005385 9.8 AGRN CHAT COL13A1 LAMA5 MYO9A SLC5A7
3 nervous system MP:0003631 9.61 AGRN CHAT COL13A1 LAMA5 MYO9A SLC18A3
4 muscle MP:0005369 9.55 AGRN CHAT COL13A1 SLC18A3 SNAP25
5 respiratory system MP:0005388 9.02 AGRN CHAT LAMA5 SLC5A7 SNAP25

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 19)
# Title Authors PMID Year
1
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. 61 6
28544784 2017
2
Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations. 61
33462016 2021
3
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter. 61
33250374 2021
4
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes. 61
33659639 2020
5
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. 61
32776697 2020
6
Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence. 61
32250532 2020
7
The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms. 61
30941097 2019
8
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. 61
29441694 2018
9
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. 61
29377152 2018
10
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. 61
29088354 2017
11
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. 61
28253535 2017
12
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. 61
27590285 2016
13
Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family. 61
26789281 2016
14
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. 61
26519543 2015
15
Genetics of strabismus and lid diseases. 61
27625884 2014
16
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. 61
25192047 2014
17
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. 61
24951643 2014
18
Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. 61
12609506 2003
19
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 Position
1 LAMA5 NM_005560.5(LAMA5):c.7975C>T (p.Arg2659Trp) SNV Likely pathogenic 619598 rs201012962 GRCh37: 20:60890156-60890156
GRCh38: 20:62315100-62315100
2 MYO9A NM_006901.4(MYO9A):c.1016A>G (p.Tyr339Cys) SNV Uncertain significance 585279 rs764921711 GRCh37: 15:72313341-72313341
GRCh38: 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 SYT2 SNAP25 SLC5A7 SLC18A3 CHAT
2
Show member pathways
11.69 LAMA5 COL13A1 AGRN
3
Show member pathways
11.49 SNAP25 SLC5A7 SLC18A3 CHAT
4
Show member pathways
11.23 VAMP1 SYT2 SNAP25
5 11.12 LAMA5 AGRN
6 9.88 SLC5A7 SLC18A3 CHAT

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 cell junction GO:0030054 9.5 VAMP1 SYT2 SNAP25 SLC5A7 MYO9A COL13A1
2 presynapse GO:0098793 9.33 VAMP1 SLC5A7 CHAT
3 clathrin-coated vesicle membrane GO:0030665 9.32 SYT2 SLC18A3
4 SNARE complex GO:0031201 9.26 VAMP1 SNAP25
5 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 extracellular matrix organization GO:0030198 9.58 LAMA5 COL13A1 AGRN
2 tissue development GO:0009888 9.37 LAMA5 AGRN
3 vesicle fusion GO:0006906 9.32 VAMP1 SNAP25
4 neuromuscular synaptic transmission GO:0007274 9.26 SLC5A7 CHAT
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 extracellular matrix structural constituent GO:0005201 9.13 LAMA5 COL13A1 AGRN
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
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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