MCID: PRS124
MIFTS: 28

Presynaptic Congenital Myasthenic Syndromes

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

Aliases & Classifications for Presynaptic Congenital Myasthenic Syndromes

MalaCards integrated aliases for Presynaptic Congenital Myasthenic Syndromes:

Name: Presynaptic Congenital Myasthenic Syndromes 59
Congenital Myasthenic Syndromes, Presynaptic 73

Characteristics:

Orphanet epidemiological data:

59
presynaptic congenital myasthenic syndromes
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:



External Ids:

Orphanet 59 ORPHA98914
ICD10 via Orphanet 34 G70.2
UMLS via Orphanet 74 C0751884
UMLS 73 C0751884

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 SLC5A7 (Solute Carrier Family 5 Member 7), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neurotransmitter Release Cycle. Affiliated tissues include eye, and related phenotypes are behavior/neurological and growth/size/body region

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

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

Articles related to Presynaptic Congenital Myasthenic Syndromes:

# Title Authors Year
1
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. ( 29441694 )
2018
2
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. ( 29377152 )
2018
3
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. ( 28544784 )
2017
4
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. ( 28253535 )
2017
5
Presynaptic congenital myasthenic syndrome due to quantal release deficiency. ( 11468313 )
2001

Variations for Presynaptic Congenital Myasthenic Syndromes

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 9.92 AGRN COL13A1 MYO9A SLC18A3 SLC25A1 SLC5A7
2 tertiary granule membrane GO:0070821 9.46 SNAP25 VAMP1
3 terminal bouton GO:0043195 9.43 SLC18A3 VAMP1
4 cell junction GO:0030054 9.43 AGRN COL13A1 SLC5A7 SNAP25 SYT2 VAMP1
5 SNARE complex GO:0031201 9.37 SNAP25 VAMP1
6 presynapse GO:0098793 9.33 CHAT SLC18A3 SLC5A7
7 clathrin-coated vesicle membrane GO:0030665 9.26 SLC18A3 SYT2
8 synapse GO:0045202 9.23 AGRN CHAT COL13A1 SLC18A3 SLC5A7 SNAP25
9 membrane GO:0016020 10.06 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 synaptic vesicle exocytosis GO:0016079 9.26 SNAP25 SYT2
2 neurotransmitter biosynthetic process GO:0042136 9.16 CHAT SLC5A7
3 vesicle fusion GO:0006906 9.13 SNAP25 SYT2 VAMP1
4 neurotransmitter secretion GO:0007269 9.02 CHAT SLC18A3 SLC5A7 SNAP25 SYT2

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

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

Sources for Presynaptic Congenital Myasthenic Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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