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

Summaries for Presynaptic Congenital Myasthenic Syndromes

MalaCards based summary : Presynaptic Congenital Myasthenic Syndromes, also known as congenital myasthenic syndromes, presynaptic, is related to congenital myasthenic syndrome and myasthenic syndrome, congenital, 6, presynaptic. An important gene associated with Presynaptic Congenital Myasthenic Syndromes is COL13A1 (Collagen Type XIII Alpha 1 Chain), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neurotransmitter Release Cycle. Affiliated tissues include eye, and related phenotypes are ptosis and dysphagia

Related Diseases for Presynaptic Congenital Myasthenic Syndromes

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:

60 33 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
2 dysphagia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002015
3 proximal muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003701
4 neck muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000467
5 fatigable weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003473
6 poor suck 60 33 hallmark (90%) Very frequent (99-80%) HP:0002033
7 sudden episodic apnea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002882
8 intermittent episodes of respiratory insufficiency due to muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0004889
9 frontalis muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0004661
10 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
11 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
12 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
13 generalized muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003324
14 arthrogryposis multiplex congenita 60 33 frequent (33%) Frequent (79-30%) HP:0002804
15 easy fatigability 60 33 frequent (33%) Frequent (79-30%) HP:0003388
16 ophthalmoplegia 60 33 frequent (33%) Frequent (79-30%) HP:0000602
17 nasal speech 60 33 frequent (33%) Frequent (79-30%) HP:0001611
18 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
19 decreased fetal movement 60 33 frequent (33%) Frequent (79-30%) HP:0001558
20 muscle fiber atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0100295
21 cyanosis 60 33 frequent (33%) Frequent (79-30%) HP:0000961
22 bulbar palsy 60 33 frequent (33%) Frequent (79-30%) HP:0001283
23 spinal deformities 60 33 frequent (33%) Frequent (79-30%) HP:0008443
24 central sleep apnea 60 33 frequent (33%) Frequent (79-30%) HP:0010536
25 choking episodes 60 33 frequent (33%) Frequent (79-30%) HP:0030842
26 emg: impaired neuromuscular transmission 60 33 frequent (33%) Frequent (79-30%) HP:0100285
27 apneic episodes precipitated by illness, fatigue, stress 60 33 frequent (33%) Frequent (79-30%) HP:0002872
28 episodic respiratory distress 60 33 frequent (33%) Frequent (79-30%) HP:0004885
29 nasal regurgitation 60 33 frequent (33%) Frequent (79-30%) HP:0011469
30 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
31 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
32 dysphonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001618
33 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
34 waddling gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002515
35 spinal rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0003306
36 emg: myopathic abnormalities 60 33 occasional (7.5%) Occasional (29-5%) HP:0003458
37 toe walking 60 33 occasional (7.5%) Occasional (29-5%) HP:0040083
38 motor delay 60 33 occasional (7.5%) Occasional (29-5%) HP:0001270
39 kyphoscoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002751
40 long face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000276
41 areflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001284
42 weak cry 60 33 occasional (7.5%) Occasional (29-5%) HP:0001612
43 limb-girdle muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003325
44 distal lower limb muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0009053
45 stridor 60 33 occasional (7.5%) Occasional (29-5%) HP:0010307
46 poor head control 60 33 occasional (7.5%) Occasional (29-5%) HP:0002421
47 distal amyotrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003693
48 central hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011398
49 narrow jaw 60 33 occasional (7.5%) Occasional (29-5%) HP:0012801
50 low-set ears 60 33 very rare (1%) Very rare (<4-1%) HP:0000369

MGI Mouse Phenotypes related to Presynaptic Congenital Myasthenic Syndromes:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 AGRN CHAT COL13A1 MYO9A SLC18A3 SLC5A7
2 growth/size/body region MP:0005378 9.7 AGRN CHAT COL13A1 MYO9A SNAP25 SYT2
3 muscle MP:0005369 9.35 AGRN CHAT COL13A1 SLC18A3 SNAP25
4 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:

42
Eye

Publications for Presynaptic Congenital Myasthenic Syndromes

Variations for Presynaptic Congenital Myasthenic Syndromes

ClinVar genetic disease variations for Presynaptic Congenital Myasthenic Syndromes:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYO9A NM_006901.3(MYO9A): c.1016A> G (p.Tyr339Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 72313341: 72313341
2 MYO9A NM_006901.3(MYO9A): c.1016A> G (p.Tyr339Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 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 integral component of membrane GO:0016021 9.86 AGRN COL13A1 MYO9A SLC18A3 SLC25A1 SLC5A7
2 axon GO:0030424 9.58 SLC5A7 SNAP25 SYT2
3 neuromuscular junction GO:0031594 9.48 SLC5A7 VAMP1
4 synaptic vesicle membrane GO:0030672 9.46 SYT2 VAMP1
5 tertiary granule membrane GO:0070821 9.43 SNAP25 VAMP1
6 cell junction GO:0030054 9.43 AGRN COL13A1 SLC5A7 SNAP25 SYT2 VAMP1
7 clathrin-coated vesicle membrane GO:0030665 9.32 SLC18A3 SYT2
8 presynapse GO:0098793 9.16 CHAT SLC5A7
9 synapse GO:0045202 9.1 AGRN COL13A1 SLC5A7 SNAP25 SYT2 VAMP1
10 membrane GO:0016020 10.02 AGRN COL13A1 MYO9A SLC18A3 SLC25A1 SLC5A7

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

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

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

# Name GO ID Score Top Affiliating Genes
1 syntaxin binding GO:0019905 8.62 SNAP25 SYT2

Sources for Presynaptic Congenital Myasthenic Syndromes

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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35 ICD10 via Orphanet
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50 NCI
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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73 Tocris
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75 UMLS via Orphanet
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