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 low-set ears and high palate

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:

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 very rare (1%) Very rare (<4-1%) HP:0000369
2 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
3 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
4 nystagmus 59 32 very rare (1%) Very rare (<4-1%) HP:0000639
5 diplopia 59 32 very rare (1%) Very rare (<4-1%) HP:0000651
6 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
9 dysphonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001618
10 dysphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002015
11 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
12 pectus carinatum 59 32 very rare (1%) Very rare (<4-1%) HP:0000768
13 sensorineural hearing impairment 59 32 very rare (1%) Very rare (<4-1%) HP:0000407
14 gastroesophageal reflux 59 32 very rare (1%) Very rare (<4-1%) HP:0002020
15 generalized muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003324
16 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
17 waddling gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002515
18 spinal rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003306
19 toe walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0040083
20 arthrogryposis multiplex congenita 59 32 frequent (33%) Frequent (79-30%) HP:0002804
21 motor delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001270
22 congenital hip dislocation 59 32 very rare (1%) Very rare (<4-1%) HP:0001374
23 joint laxity 59 32 very rare (1%) Very rare (<4-1%) HP:0001388
24 easy fatigability 59 32 frequent (33%) Frequent (79-30%) HP:0003388
25 eeg with polyspike wave complexes 59 32 very rare (1%) Very rare (<4-1%) HP:0002392
26 polyhydramnios 59 32 very rare (1%) Very rare (<4-1%) HP:0001561
27 long face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000276
28 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
29 areflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001284
30 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
31 obstructive sleep apnea 59 32 very rare (1%) Very rare (<4-1%) HP:0002870
32 hyporeflexia 59 32 very rare (1%) Very rare (<4-1%) HP:0001265
33 proximal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003701
34 decreased fetal movement 59 32 frequent (33%) Frequent (79-30%) HP:0001558
35 microretrognathia 59 32 very rare (1%) Very rare (<4-1%) HP:0000308
36 weak cry 59 32 occasional (7.5%) Occasional (29-5%) HP:0001612
37 muscle fiber atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0100295
38 ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000602
39 limb-girdle muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003325
40 neck muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000467
41 distal lower limb muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0009053
42 fatigable weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0003473
43 kyphoscoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002751
44 poor suck 59 32 hallmark (90%) Very frequent (99-80%) HP:0002033
45 cyanosis 59 32 frequent (33%) Frequent (79-30%) HP:0000961
46 stridor 59 32 occasional (7.5%) Occasional (29-5%) HP:0010307
47 bulbar palsy 59 32 frequent (33%) Frequent (79-30%) HP:0001283
48 spinal deformities 59 32 frequent (33%) Frequent (79-30%) HP:0008443
49 poor head control 59 32 occasional (7.5%) Occasional (29-5%) HP:0002421
50 esotropia 59 32 very rare (1%) Very rare (<4-1%) HP:0000565

MGI Mouse Phenotypes related to Presynaptic Congenital Myasthenic Syndromes:

46
# 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:

41
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 rs764921711 GRCh37 Chromosome 15, 72313341: 72313341
2 MYO9A NM_006901.3(MYO9A): c.1016A> G (p.Tyr339Cys) single nucleotide variant Uncertain significance rs764921711 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 presynapse GO:0098793 9.33 CHAT SLC5A7 VAMP1
8 clathrin-coated vesicle membrane GO:0030665 9.32 SLC18A3 SYT2
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

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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45 MESH via Orphanet
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49 NCI
50 NCIt
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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