MCID: PST063
MIFTS: 36

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 59 55
Congenital Myasthenic Syndromes, Postsynaptic 73

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:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
2 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
3 diplopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000651
4 facial palsy 59 32 frequent (33%) Frequent (79-30%) HP:0010628
5 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
6 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
7 ophthalmoparesis 59 32 frequent (33%) Frequent (79-30%) HP:0000597
8 easy fatigability 59 32 frequent (33%) Frequent (79-30%) HP:0003388
9 type 1 muscle fiber predominance 59 32 frequent (33%) Frequent (79-30%) HP:0003803
10 respiratory failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0002878
11 fatigable weakness of respiratory muscles 59 32 occasional (7.5%) Occasional (29-5%) HP:0030196
12 neck flexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003722
13 reduced vital capacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002792
14 delayed gross motor development 59 32 occasional (7.5%) Occasional (29-5%) HP:0002194
15 cyanosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000961
16 orthopnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0012764
17 exertional dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002875
18 restrictive ventilatory defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0002091
19 drowsiness 59 32 occasional (7.5%) Occasional (29-5%) HP:0002329
20 thoracic kyphoscoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0005659
21 shoulder girdle muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003547
22 triceps weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0031108
23 hip flexor weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0012515
24 weakness of long finger extensor muscles 59 32 occasional (7.5%) Occasional (29-5%) HP:0009077
25 ankle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0031374
26 decreased miniature endplate potentials 59 32 frequent (33%) Frequent (79-30%) HP:0003402
27 decreased size of nerve terminals 59 32 frequent (33%) Frequent (79-30%) HP:0003443
28 weakness of the intrinsic hand muscles 59 32 frequent (33%) Frequent (79-30%) HP:0009005
29 fatigable weakness of neck muscles 59 32 frequent (33%) Frequent (79-30%) HP:0030199
30 abnormality of masticatory muscle 59 32 frequent (33%) Frequent (79-30%) HP:0410011
31 abnormality of eye movement 59 Frequent (79-30%)
32 muscle weakness 59 Frequent (79-30%)
33 scoliosis 59 Occasional (29-5%)
34 emg: myopathic abnormalities 59 Frequent (79-30%)
35 upper limb muscle weakness 59 Frequent (79-30%)
36 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 59 Frequent (79-30%)
37 abnormality of the musculature of the upper limbs 59 Frequent (79-30%)
38 emg 32 frequent (33%) HP:0003403

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 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:

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 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:

41
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

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 transmembrane signaling receptor activity GO:0004888 9.73 CHRNA1 CHRNB1 CHRND MUSK
3 extracellular ligand-gated ion channel activity GO:0005230 9.71 CHRNA1 CHRNB1 CHRND CHRNE
4 ligand-gated ion channel activity GO:0015276 9.62 CHRNA1 CHRNB1 CHRND CHRNE
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.56 CHRNA1 CHRNB1 CHRND CHRNE
6 acetylcholine binding GO:0042166 9.46 CHRNA1 CHRNB1 CHRND CHRNE
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 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
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
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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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