MCID: PRS124
MIFTS: 28

Presynaptic Congenital Myasthenic Syndromes

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

Aliases & Classifications for Presynaptic Congenital Myasthenic Syndromes

MalaCards integrated aliases for Presynaptic Congenital Myasthenic Syndromes:

Name: Presynaptic Congenital Myasthenic Syndromes 55
Congenital Myasthenic Syndromes, Presynaptic 69

Characteristics:

Orphanet epidemiological data:

55
presynaptic congenital myasthenic syndromes
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:



External Ids:

Orphanet 55 ORPHA98914
UMLS via Orphanet 70 C0751884
ICD10 via Orphanet 33 G70.2
UMLS 69 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 muscle

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 AGRN CHAT COL13A1 SLC18A3 SLC5A7 SNAP25
2 muscle MP:0005369 9.35 SNAP25 AGRN CHAT COL13A1 SLC18A3
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:

38
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 9.97 AGRN COL13A1 MYO9A SLC18A3 SLC25A1 SLC5A7
2 synaptic vesicle membrane GO:0030672 9.46 SYT2 VAMP1
3 tertiary granule membrane GO:0070821 9.43 SNAP25 VAMP1
4 cell junction GO:0030054 9.43 AGRN COL13A1 SLC5A7 SNAP25 SYT2 VAMP1
5 presynapse GO:0098793 9.33 CHAT SLC18A3 SLC5A7
6 SNARE complex GO:0031201 9.32 SNAP25 VAMP1
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 vesicle fusion GO:0006906 9.16 SYT2 VAMP1
2 neurotransmitter secretion GO:0007269 9.02 CHAT SLC18A3 SLC5A7 SNAP25 SYT2
3 neurotransmitter biosynthetic process GO:0042136 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 SNAP receptor activity GO:0005484 8.62 SNAP25 VAMP1

Sources for Presynaptic Congenital Myasthenic Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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