MCID: PST063
MIFTS: 35

Postsynaptic Congenital Myasthenic Syndromes

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Postsynaptic Congenital Myasthenic Syndromes

MalaCards integrated aliases for Postsynaptic Congenital Myasthenic Syndromes:

Name: Postsynaptic Congenital Myasthenic Syndromes 60 56
Congenital Myasthenic Syndromes, Postsynaptic 74

Classifications:



Summaries for Postsynaptic Congenital Myasthenic Syndromes

MalaCards based summary : Postsynaptic Congenital Myasthenic Syndromes, also known as congenital myasthenic syndromes, postsynaptic, is related to presynaptic congenital myasthenic syndromes and thymus gland disease. 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, skeletal muscle and thymus, and related phenotypes are high palate and ptosis

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

Human phenotypes related to Postsynaptic Congenital Myasthenic Syndromes:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
2 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
3 facial palsy 60 33 frequent (33%) Frequent (79-30%) HP:0010628
4 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
5 reduced tendon reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001315
6 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
7 ophthalmoparesis 60 33 frequent (33%) Frequent (79-30%) HP:0000597
8 easy fatigability 60 33 frequent (33%) Frequent (79-30%) HP:0003388
9 type 1 muscle fiber predominance 60 33 frequent (33%) Frequent (79-30%) HP:0003803
10 neck flexor weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003722
11 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 60 33 frequent (33%) Frequent (79-30%) HP:0003403
12 weakness of the intrinsic hand muscles 60 33 frequent (33%) Frequent (79-30%) HP:0009005
13 shoulder girdle muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003547
14 fatigable weakness of neck muscles 60 33 frequent (33%) Frequent (79-30%) HP:0030199
15 abnormality of masticatory muscle 60 33 frequent (33%) Frequent (79-30%) HP:0410011
16 decreased miniature endplate potentials 60 33 frequent (33%) Frequent (79-30%) HP:0003402
17 decreased size of nerve terminals 60 33 frequent (33%) Frequent (79-30%) HP:0003443
18 diplopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000651
19 respiratory failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0002878
20 fatigable weakness of respiratory muscles 60 33 occasional (7.5%) Occasional (29-5%) HP:0030196
21 reduced vital capacity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002792
22 delayed gross motor development 60 33 occasional (7.5%) Occasional (29-5%) HP:0002194
23 cyanosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000961
24 drowsiness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002329
25 exertional dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002875
26 restrictive ventilatory defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0002091
27 thoracic kyphoscoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0005659
28 weakness of long finger extensor muscles 60 33 occasional (7.5%) Occasional (29-5%) HP:0009077
29 triceps weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0031108
30 hip flexor weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0012515
31 ankle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0031374
32 orthopnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0012764
33 abnormality of eye movement 60 Frequent (79-30%)
34 muscle weakness 60 Frequent (79-30%)
35 scoliosis 60 Occasional (29-5%)
36 upper limb muscle weakness 60 Frequent (79-30%)
37 abnormality of the musculature of the upper limbs 60 Frequent (79-30%)

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

27 (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 CHRNB1 MUSK RAPSN
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:

47
# 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 AGRN CHRNA1 CHRNB1 CHRNE COL13A1 DOK7
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:

42
Eye, Skeletal Muscle, Thymus

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 CHRNA1 CHRNB1 CHRND CHRNE MUSK
2
Show member pathways
12.21 AGRN COL13A1 LRP4 MUSK
3 11.09 AGRN LRP4 MUSK
4 11.01 AGRN CHRNA1 MUSK RAPSN
5 10 CHRNA1 CHRNB1 CHRND CHRNE

GO Terms for Postsynaptic Congenital Myasthenic Syndromes

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

(show all 11)
# 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 9.91 AGRN CHRNA1 CHRNB1 CHRND CHRNE COL13A1
3 neuron projection GO:0043005 9.78 CHRNA1 CHRNB1 CHRND CHRNE
4 postsynaptic membrane GO:0045211 9.7 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 MUSK
5 acetylcholine-gated channel complex GO:0005892 9.62 CHRNA1 CHRNB1 CHRND CHRNE
6 synapse GO:0045202 9.61 AGRN CHRNA1 CHRNB1 CHRND CHRNE COL13A1
7 integral component of postsynaptic specialization membrane GO:0099060 9.58 CHRNA1 CHRNB1 CHRND
8 neuromuscular junction GO:0031594 9.17 CHRNA1 CHRNB1 CHRND CHRNE LRP4 MUSK
9 membrane GO:0016020 10.2 AGRN CHRNA1 CHRNB1 CHRND CHRNE COL13A1
10 integral component of membrane GO:0016021 10.15 AGRN CHRNA1 CHRNB1 CHRND CHRNE COL13A1
11 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 9.84 CHRNA1 CHRNB1 CHRND CHRNE
3 chemical synaptic transmission GO:0007268 9.8 CHRNA1 CHRNB1 CHRND CHRNE RAPSN
4 regulation of membrane potential GO:0042391 9.78 CHRNA1 CHRNB1 CHRND CHRNE
5 cation transport GO:0006812 9.73 CHRNA1 CHRNB1 CHRND
6 muscle contraction GO:0006936 9.73 CHRNB1 CHRND CHRNE SCN4A
7 excitatory postsynaptic potential GO:0060079 9.67 CHRNA1 CHRNB1 CHRND CHRNE
8 skeletal muscle contraction GO:0003009 9.63 CHRNA1 CHRNB1 CHRND
9 nervous system process GO:0050877 9.62 CHRNA1 CHRNB1 CHRND CHRNE
10 synapse organization GO:0050808 9.61 AGRN LRP4
11 neuromuscular junction development GO:0007528 9.6 CHRNA1 MUSK
12 neuronal action potential GO:0019228 9.59 CHRNA1 SCN4A
13 receptor clustering GO:0043113 9.58 AGRN LRP4
14 neuromuscular process GO:0050905 9.58 CHRNA1 CHRND
15 regulation of postsynaptic membrane potential GO:0060078 9.56 CHRNA1 CHRNB1 CHRND CHRNE
16 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.55 LRP4 MUSK
17 musculoskeletal movement GO:0050881 9.52 CHRNA1 CHRND
18 regulation of synaptic growth at neuromuscular junction GO:0008582 9.51 AGRN MUSK
19 skeletal muscle tissue growth GO:0048630 9.49 CHRNA1 CHRND
20 response to nicotine GO:0035094 9.46 CHRNA1 CHRNB1 CHRND CHRNE
21 neuromuscular synaptic transmission GO:0007274 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 9.77 CHRNA1 CHRNB1 CHRND CHRNE SCN4A
2 extracellular ligand-gated ion channel activity GO:0005230 9.71 CHRNA1 CHRNB1 CHRND CHRNE
3 transmembrane signaling receptor activity GO:0004888 9.61 CHRNA1 CHRNB1 CHRND
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.56 CHRNA1 CHRNB1 CHRND CHRNE
5 acetylcholine binding GO:0042166 9.46 CHRNA1 CHRNB1 CHRND CHRNE
6 ligand-gated ion channel activity GO:0015276 9.32 CHRNB1 CHRND
7 acetylcholine-gated cation-selective channel activity GO:0022848 9.26 CHRNA1 CHRNB1 CHRND CHRNE
8 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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