MCID: PST063
MIFTS: 25

Postsynaptic Congenital Myasthenic Syndromes

Categories: Neuronal diseases, Eye diseases, Rare diseases

Aliases & Classifications for Postsynaptic Congenital Myasthenic Syndromes

MalaCards integrated aliases for Postsynaptic Congenital Myasthenic Syndromes:

Name: Postsynaptic Congenital Myasthenic Syndromes 59 55
Congenital Myasthenic Syndromes, Postsynaptic 73

Classifications:



External Ids:

Orphanet 59 ORPHA98913
ICD10 via Orphanet 34 G70.2
UMLS 73 C0751883

Summaries for Postsynaptic Congenital Myasthenic Syndromes

MalaCards based summary : Postsynaptic Congenital Myasthenic Syndromes, also known as congenital myasthenic syndromes, postsynaptic, is related to cystic lymphangioma and presynaptic congenital myasthenic syndromes. An important gene associated with Postsynaptic Congenital Myasthenic Syndromes is RAPSN (Receptor Associated Protein Of The Synapse), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Degradation of the extracellular matrix. Affiliated tissues include eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Postsynaptic Congenital Myasthenic Syndromes

Graphical network of the top 20 diseases related to Postsynaptic Congenital Myasthenic Syndromes:



Diseases related to Postsynaptic Congenital Myasthenic Syndromes

Symptoms & Phenotypes for Postsynaptic Congenital Myasthenic Syndromes

GenomeRNAi Phenotypes related to Postsynaptic Congenital Myasthenic Syndromes according to GeneCards Suite gene sharing:

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 CHRNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.87 RAPSN
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.87 CHRNA1 CHRNB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.87 RAPSN
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.87 MUSK
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.87 CHRNA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.87 MUSK
8 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.87 CHRNA1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.87 CHRNA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.87 MUSK
11 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.87 CHRNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.87 MUSK
13 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.87 RAPSN
14 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.87 CHRNB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.87 CHRNA1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.87 CHRNA1 MUSK
17 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.87 CHRNA1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.87 CHRNA1 CHRNB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.87 CHRNA1 MUSK
20 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.87 CHRNA1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.87 CHRNA1 RAPSN CHRNB1 MUSK
22 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.87 CHRNA1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.87 MUSK
24 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.87 CHRNB1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.87 MUSK
26 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.87 CHRNB1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.87 RAPSN
28 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.87 CHRNA1

MGI Mouse Phenotypes related to Postsynaptic Congenital Myasthenic Syndromes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 AGRN CHRNA1 CHRNE COL13A1 DOK7 LRP4
2 muscle MP:0005369 9.7 AGRN CHRNE COL13A1 DOK7 MUSK RAPSN
3 nervous system MP:0003631 9.61 CHRNE COL13A1 DOK7 LRP4 MUSK RAPSN
4 respiratory system MP:0005388 9.17 AGRN CHRNE DOK7 LRP4 MUSK RAPSN

Drugs & Therapeutics for Postsynaptic Congenital Myasthenic Syndromes

Search Clinical Trials , NIH Clinical Center for Postsynaptic Congenital Myasthenic Syndromes

Genetic Tests for Postsynaptic Congenital Myasthenic Syndromes

Anatomical Context for Postsynaptic Congenital Myasthenic Syndromes

MalaCards organs/tissues related to Postsynaptic Congenital Myasthenic Syndromes:

41
Eye

Publications for Postsynaptic Congenital Myasthenic Syndromes

Variations for Postsynaptic Congenital Myasthenic Syndromes

Expression for Postsynaptic Congenital Myasthenic Syndromes

Search GEO for disease gene expression data for Postsynaptic Congenital Myasthenic Syndromes.

Pathways for Postsynaptic Congenital Myasthenic Syndromes

GO Terms for Postsynaptic Congenital Myasthenic Syndromes

Cellular components related to Postsynaptic Congenital Myasthenic Syndromes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.91 CHRNA1 CHRNB1 CHRND CHRNE MUSK SCN4A
2 cell junction GO:0030054 9.81 AGRN CHRNA1 CHRNB1 CHRND CHRNE COL13A1
3 neuron projection GO:0043005 9.76 CHRNA1 CHRNB1 CHRND CHRNE
4 neuromuscular junction GO:0031594 9.62 CHRNA1 LRP4 MUSK RAPSN
5 acetylcholine-gated channel complex GO:0005892 9.56 CHRNA1 CHRNB1 CHRND CHRNE
6 postsynaptic membrane GO:0045211 9.5 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 MUSK
7 synapse GO:0045202 9.28 AGRN CHRNA1 CHRNB1 CHRND CHRNE COL13A1
8 membrane GO:0016020 10.14 AGRN CHRNA1 CHRNB1 CHRND CHRNE COL13A1
9 integral component of membrane GO:0016021 10.13 AGRN CHRNA1 CHRNB1 CHRND CHRNE COL13A1
10 plasma membrane GO:0005886 10.11 AGRN CHRNA1 CHRNB1 CHRND CHRNE COL13A1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.97 CHRNA1 CHRNB1 CHRND CHRNE SCN4A
2 ion transmembrane transport GO:0034220 9.89 CHRNA1 CHRNB1 CHRND CHRNE SCN4A
3 chemical synaptic transmission GO:0007268 9.83 CHRNA1 CHRNB1 CHRND CHRNE RAPSN
4 regulation of membrane potential GO:0042391 9.81 CHRNA1 CHRNB1 CHRND CHRNE
5 muscle contraction GO:0006936 9.78 CHRNB1 CHRND CHRNE SCN4A
6 cation transport GO:0006812 9.73 CHRNA1 CHRNB1 CHRND
7 cation transmembrane transport GO:0098655 9.72 CHRNB1 CHRND CHRNE
8 excitatory postsynaptic potential GO:0060079 9.71 CHRNA1 CHRNB1 CHRND CHRNE
9 nervous system process GO:0050877 9.67 CHRNA1 CHRNB1 CHRND CHRNE
10 skeletal muscle contraction GO:0003009 9.63 CHRNA1 CHRNB1 CHRND
11 synapse organization GO:0050808 9.61 AGRN LRP4
12 neuromuscular junction development GO:0007528 9.6 CHRNA1 MUSK
13 neuronal action potential GO:0019228 9.59 CHRNA1 SCN4A
14 receptor clustering GO:0043113 9.58 AGRN LRP4
15 neuromuscular process GO:0050905 9.58 CHRNA1 CHRND
16 response to nicotine GO:0035094 9.56 CHRNA1 CHRNB1 CHRND CHRNE
17 musculoskeletal movement GO:0050881 9.54 CHRNA1 CHRND
18 skeletal muscle tissue growth GO:0048630 9.52 CHRNA1 CHRND
19 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.5 LRP4 MUSK RAPSN
20 neuromuscular synaptic transmission GO:0007274 9.46 CHRNA1 CHRNB1 CHRND CHRNE
21 regulation of postsynaptic membrane potential GO:0060078 9.26 CHRNA1 CHRNB1 CHRND CHRNE
22 synaptic transmission, cholinergic GO:0007271 9.02 CHRNA1 CHRNB1 CHRND CHRNE RAPSN

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.72 CHRNA1 CHRNB1 CHRND CHRNE SCN4A
2 transmembrane signaling receptor activity GO:0004888 9.71 CHRNA1 CHRNB1 CHRND MUSK
3 extracellular ligand-gated ion channel activity GO:0005230 9.67 CHRNA1 CHRNB1 CHRND CHRNE
4 ligand-gated ion channel activity GO:0015276 9.56 CHRNA1 CHRNB1 CHRND CHRNE
5 acetylcholine binding GO:0042166 9.46 CHRNA1 CHRNB1 CHRND CHRNE
6 acetylcholine-gated cation-selective channel activity GO:0022848 9.26 CHRNA1 CHRNB1 CHRND CHRNE
7 acetylcholine receptor activity GO:0015464 8.92 CHRNA1 CHRNB1 CHRND CHRNE

Sources for Postsynaptic 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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