MCID: PST063
MIFTS: 34

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 58 54
Congenital Myasthenic Syndromes, Postsynaptic 70

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


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, skeletal muscle and thymus, and related phenotypes are ptosis and facial palsy

Related Diseases for Postsynaptic Congenital Myasthenic Syndromes

Diseases related to Postsynaptic Congenital Myasthenic Syndromes via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 cystic lymphangioma 10.1 CHRND CHRNA1
2 presynaptic congenital myasthenic syndromes 10.1 COL13A1 AGRN
3 myasthenic syndrome, congenital, 14 10.1 CHRND CHRNB1
4 hydrops fetalis, nonimmune 10.0 RAPSN CHRNA1
5 combined oxidative phosphorylation deficiency 6 10.0 CHRND CHRNB1
6 multiple pterygium syndrome, lethal type 10.0 RAPSN CHRND CHRNA1
7 myasthenic syndrome, congenital, 1a, slow-channel 10.0 CHRND CHRNB1 CHRNA1
8 myasthenic syndrome, congenital, 21, presynaptic 10.0 RAPSN DOK7 AGRN
9 myasthenic syndrome, congenital, 1b, fast-channel 10.0 CHRNE CHRND CHRNA1
10 polyglucosan body myopathy 1 with or without immunodeficiency 9.9 SCN4A CHRND
11 tobacco addiction 9.9 CHRND CHRNB1 CHRNA1
12 autoimmune disease of peripheral nervous system 9.8 RAPSN MUSK AGRN
13 sclerosteosis 2 9.8 RAPSN LRP4 DOK7
14 slow-channel congenital myasthenic syndrome 9.8 CHRNE CHRND CHRNB1 CHRNA1
15 myasthenic syndrome, congenital, 5 9.8 RAPSN DOK7
16 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 9.7 RAPSN MUSK CHRNE
17 muscular dystrophy, congenital, lmna-related 9.7 RAPSN DOK7 CHRNE AGRN
18 ocular motility disease 9.7 RAPSN MUSK CHRNE
19 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 9.7 RAPSN MUSK CHRNE
20 distal arthrogryposis 9.7 SCN4A RAPSN CHRND
21 paramyotonia congenita of von eulenburg 9.7 SCN4A CHRNE CHRND CHRNB1
22 polyhydramnios 9.6 RAPSN MUSK DOK7
23 neonatal myasthenia gravis 9.6 MUSK LRP4 AGRN
24 thymus gland disease 9.6 MUSK LRP4 AGRN
25 thymus cancer 9.6 MUSK LRP4 AGRN
26 myasthenic syndrome, congenital, 19 9.4 RAPSN MUSK DOK7 COL13A1
27 myasthenic syndrome, congenital, 13 9.4 RAPSN DOK7 CHRNE CHRND CHRNB1 CHRNA1
28 multiple pterygium syndrome, escobar variant 9.4 RAPSN DOK7 CHRNE CHRND CHRNB1 CHRNA1
29 cenani-lenz syndactyly syndrome 9.2 RAPSN MUSK LRP4 DOK7 AGRN
30 myasthenia gravis 9.1 RAPSN MUSK LRP4 CHRNE CHRNA1 AGRN
31 peripheral nervous system disease 9.0 SCN4A RAPSN MUSK DOK7 CHRNE AGRN
32 fetal akinesia deformation sequence 1 8.9 SCN4A RAPSN MUSK DOK7 CHRND CHRNB1
33 neuromuscular disease 8.2 SCN4A RAPSN MUSK LRP4 DOK7 CHRNE
34 ptosis 8.1 SCN4A RAPSN MUSK LRP4 DOK7 COL13A1
35 neuromuscular junction disease 7.9 SCN4A RAPSN MUSK LRP4 DOK7 COL13A1
36 congenital myasthenic syndrome 7.9 SCN4A RAPSN MUSK LRP4 DOK7 COL13A1

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:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
2 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
3 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
4 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
5 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
6 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
7 easy fatigability 58 31 frequent (33%) Frequent (79-30%) HP:0003388
8 type 1 muscle fiber predominance 58 31 frequent (33%) Frequent (79-30%) HP:0003803
9 ophthalmoparesis 58 31 frequent (33%) Frequent (79-30%) HP:0000597
10 shoulder girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003547
11 neck flexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003722
12 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 58 31 frequent (33%) Frequent (79-30%) HP:0003403
13 decreased miniature endplate potentials 58 31 frequent (33%) Frequent (79-30%) HP:0003402
14 decreased size of nerve terminals 58 31 frequent (33%) Frequent (79-30%) HP:0003443
15 weakness of the intrinsic hand muscles 58 31 frequent (33%) Frequent (79-30%) HP:0009005
16 fatigable weakness of neck muscles 58 31 frequent (33%) Frequent (79-30%) HP:0030199
17 abnormality of masticatory muscle 58 31 frequent (33%) Frequent (79-30%) HP:0410011
18 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
19 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
20 reduced vital capacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002792
21 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194
22 cyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000961
23 restrictive ventilatory defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0002091
24 exertional dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002875
25 drowsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002329
26 thoracic kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005659
27 weakness of long finger extensor muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0009077
28 fatigable weakness of respiratory muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030196
29 hip flexor weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0012515
30 orthopnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0012764
31 triceps weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0031108
32 ankle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0031374
33 scoliosis 58 Occasional (29-5%)
34 abnormality of eye movement 58 Frequent (79-30%)
35 muscle weakness 58 Frequent (79-30%)
36 upper limb muscle weakness 58 Frequent (79-30%)
37 abnormality of the musculature of the upper limbs 58 Frequent (79-30%)

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

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.77 CHRNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.77 RAPSN
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.77 CHRNA1 CHRNB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.77 CHRNA1 RAPSN
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.77 MUSK
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.77 CHRNA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-175 9.77 MUSK
8 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.77 CHRNB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.77 MUSK
10 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.77 MUSK
11 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.77 CHRNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.77 RAPSN
13 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.77 CHRNA1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.77 CHRNA1 CHRNB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.77 CHRNA1 MUSK
16 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.77 CHRNA1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.77 CHRNA1 CHRNB1 MUSK
18 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.77 CHRNA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.77 CHRNB1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.77 MUSK
21 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.77 CHRNB1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.77 RAPSN

MGI Mouse Phenotypes related to Postsynaptic Congenital Myasthenic Syndromes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.76 AGRN CHRNE COL13A1 DOK7 LRP4 MUSK
2 nervous system MP:0003631 9.61 AGRN CHRNA1 CHRNB1 CHRNE COL13A1 DOK7
3 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:

40
Eye, Skeletal Muscle, Thymus

Publications for Postsynaptic Congenital Myasthenic Syndromes

Articles related to Postsynaptic Congenital Myasthenic Syndromes:

# Title Authors PMID Year
1
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 54 61
19620612 2009
2
Effect of 3,4-diaminopyridine at the murine neuromuscular junction. 61
27251582 2017
3
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations. 61
26782015 2016
4
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. 54
15328566 2004
5
Common founder effect of rapsyn N88K studied using intragenic markers. 54
15252722 2004
6
Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. 54
12929188 2003

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 membrane GO:0016020 10.22 SCN4A RAPSN MUSK LRP4 DOK7 COL13A1
2 integral component of membrane GO:0016021 10.15 SCN4A MUSK LRP4 COL13A1 CHRNE CHRND
3 plasma membrane GO:0005886 10.11 SCN4A RAPSN MUSK LRP4 DOK7 COL13A1
4 integral component of plasma membrane GO:0005887 9.91 SCN4A MUSK CHRNE CHRND CHRNB1 CHRNA1
5 cell junction GO:0030054 9.91 RAPSN MUSK DOK7 COL13A1 CHRNE CHRND
6 synapse GO:0045202 9.81 RAPSN MUSK DOK7 COL13A1 CHRNE CHRND
7 neuron projection GO:0043005 9.76 CHRNE CHRND CHRNB1 CHRNA1
8 acetylcholine-gated channel complex GO:0005892 9.62 CHRNE CHRND CHRNB1 CHRNA1
9 integral component of postsynaptic specialization membrane GO:0099060 9.58 CHRND CHRNB1 CHRNA1
10 postsynaptic membrane GO:0045211 9.5 RAPSN MUSK COL13A1 CHRNE CHRND CHRNB1
11 neuromuscular junction GO:0031594 9.17 RAPSN MUSK LRP4 CHRNE CHRND CHRNB1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.95 SCN4A CHRNE CHRND CHRNB1 CHRNA1
2 ion transmembrane transport GO:0034220 9.86 CHRNE CHRND CHRNB1 CHRNA1
3 chemical synaptic transmission GO:0007268 9.77 RAPSN CHRNE CHRND CHRNB1 CHRNA1
4 regulation of membrane potential GO:0042391 9.73 CHRNE CHRND CHRNB1 CHRNA1
5 cation transport GO:0006812 9.71 CHRND CHRNB1 CHRNA1
6 muscle contraction GO:0006936 9.71 SCN4A CHRNE CHRND CHRNB1
7 skeletal muscle contraction GO:0003009 9.63 CHRND CHRNB1 CHRNA1
8 excitatory postsynaptic potential GO:0060079 9.62 CHRNE CHRND CHRNB1 CHRNA1
9 neuronal action potential GO:0019228 9.59 SCN4A CHRNA1
10 receptor clustering GO:0043113 9.58 LRP4 AGRN
11 neuromuscular process GO:0050905 9.58 CHRND CHRNA1
12 neuromuscular synaptic transmission GO:0007274 9.57 CHRNB1 CHRNA1
13 nervous system process GO:0050877 9.56 CHRNE CHRND CHRNB1 CHRNA1
14 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.52 MUSK LRP4
15 musculoskeletal movement GO:0050881 9.51 CHRND CHRNA1
16 regulation of synaptic growth at neuromuscular junction GO:0008582 9.49 MUSK AGRN
17 skeletal muscle tissue growth GO:0048630 9.48 CHRND CHRNA1
18 regulation of postsynaptic membrane potential GO:0060078 9.46 CHRNE CHRND CHRNB1 CHRNA1
19 neuromuscular junction development GO:0007528 9.26 MUSK DOK7 CHRNA1 AGRN
20 synaptic transmission, cholinergic GO:0007271 8.92 RAPSN CHRNE CHRNB1 CHRNA1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.73 CHRNE CHRND CHRNB1 CHRNA1
2 neurotransmitter receptor activity GO:0030594 9.71 CHRNE CHRND CHRNB1 CHRNA1
3 ion channel activity GO:0005216 9.65 SCN4A CHRNE CHRND CHRNB1 CHRNA1
4 acetylcholine receptor activity GO:0015464 9.54 CHRNE CHRNB1 CHRNA1
5 acetylcholine binding GO:0042166 9.5 CHRND CHRNB1 CHRNA1
6 ligand-gated ion channel activity GO:0015276 9.46 CHRND CHRNB1
7 extracellular ligand-gated ion channel activity GO:0005230 9.46 CHRNE CHRND CHRNB1 CHRNA1
8 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.26 CHRNE CHRND CHRNB1 CHRNA1
9 acetylcholine-gated cation-selective channel activity GO:0022848 8.92 CHRNE CHRND CHRNB1 CHRNA1

Sources for Postsynaptic Congenital Myasthenic Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....