MCID: MYS011
MIFTS: 33

Myasthenia Gravis Congenital

Categories: Eye diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myasthenia Gravis Congenital

MalaCards integrated aliases for Myasthenia Gravis Congenital:

Name: Myasthenia Gravis Congenital 54
Myasthenia Gravis Pseudoparalytica 54
Erb-Goldflam Syndrome 54
Myasthenia Gravis 74
Congenital Mg 54

Classifications:



External Ids:

UMLS 74 C0026896

Summaries for Myasthenia Gravis Congenital

MalaCards based summary : Myasthenia Gravis Congenital, also known as myasthenia gravis pseudoparalytica, is related to myasthenia gravis and congenital myasthenic syndrome, and has symptoms including seizures, muscle weakness and tremor. An important gene associated with Myasthenia Gravis Congenital is RAPSN (Receptor Associated Protein Of The Synapse). The drugs Methylprednisolone and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include thymus, t cells and testes.

Related Diseases for Myasthenia Gravis Congenital

Diseases in the Myasthenia Gravis family:

Myasthenia Gravis Congenital Juvenile Myasthenia Gravis
Adult-Onset Myasthenia Gravis

Diseases related to Myasthenia Gravis Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myasthenia gravis 10.4
2 congenital myasthenic syndrome 10.3
3 adenoma 9.9

Comorbidity relations with Myasthenia Gravis Congenital via Phenotypic Disease Network (PDN):


Acute Cystitis Hypothyroidism
Respiratory Failure Swallowing Disorders

Symptoms & Phenotypes for Myasthenia Gravis Congenital

UMLS symptoms related to Myasthenia Gravis Congenital:


seizures, muscle weakness, tremor, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness, facial paresis

Drugs & Therapeutics for Myasthenia Gravis Congenital

Drugs for Myasthenia Gravis Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 1 83-43-2 6741
2
Prednisolone phosphate Approved, Vet_approved Phase 1 302-25-0
3
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
4
Mesna Approved, Investigational Phase 1 3375-50-6 598
5
Methylprednisolone hemisuccinate Approved Phase 1 2921-57-5
6
Prednisolone Approved, Vet_approved Phase 1 50-24-8 5755
7
Prednisolone hemisuccinate Experimental Phase 1 2920-86-7
8 Prednisolone acetate Phase 1
9 Antineoplastic Agents, Hormonal Phase 1
10 glucocorticoids Phase 1
11 Antineoplastic Agents, Alkylating Phase 1
12 Methylprednisolone Acetate Phase 1
13 Autonomic Agents Phase 1
14 Alkylating Agents Phase 1
15 Peripheral Nervous System Agents Phase 1
16 Hormone Antagonists Phase 1
17 Immunosuppressive Agents Phase 1
18 Anti-Inflammatory Agents Phase 1
19 Gastrointestinal Agents Phase 1
20 Antirheumatic Agents Phase 1
21 Antiemetics Phase 1
22 Hormones Phase 1
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
24 Protective Agents Phase 1
25 Neuroprotective Agents Phase 1
26 Immunologic Factors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hematopoietic Stem Cell Therapy for Patients With Refractory Myasthenia Gravis Terminated NCT00424489 Phase 1 Cyclophosphamide;ATG (rabbit);Mesna;Methylprednisolone;G-CSF

Search NIH Clinical Center for Myasthenia Gravis Congenital

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Myasthenia Gravis Congenital

Anatomical Context for Myasthenia Gravis Congenital

MalaCards organs/tissues related to Myasthenia Gravis Congenital:

42
Thymus, T Cells, Testes, B Cells, Thyroid, Bone, Eye

Publications for Myasthenia Gravis Congenital

Articles related to Myasthenia Gravis Congenital:

(show top 50) (show all 4276)
# Title Authors Year
1
Gestational Gigantomastia in the Setting of Myasthenia Gravis. ( 30956501 )
2019
2
A Co-Occurrence of Serologically Proven Myasthenia Gravis and Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome. ( 31080681 )
2019
3
Autologous hematopoietic stem cell transplantation in a patient with refractory seropositive myasthenia gravis: A case report. ( 30639064 )
2019
4
Seronegative Myasthenia Gravis in Association with Human T-Lymphotropic Virus Type 1 and Hepatitis C. ( 30787860 )
2019
5
Systemic Lupus Erythematosus and Myasthenia Gravis: A Rare Association. ( 30814797 )
2019
6
Myasthenia gravis and large granular lymphocytic leukemia. ( 30001897 )
2019
7
A case of facioscapulohumeral muscular dystrophy and myasthenia gravis with positivity of anti-Ach receptor antibody: a fortuitous association? ( 30215155 )
2019
8
Incidence, Epidemiology, and Transformation of Ocular Myasthenia Gravis: A Population Based Study. ( 31077669 )
2019
9
Inhibition of ROCK activity regulates the balance of Th1, Th17 and Treg cells in myasthenia gravis. ( 31078707 )
2019
10
Repetitive ocular vestibular evoked myogenic potential stimulation for the diagnosis of myasthenia gravis: Optimization of stimulation parameters. ( 31082787 )
2019
11
Myasthenia gravis presentation and treatment variations: A case study approach. ( 31083009 )
2019
12
Immune Checkpoint Inhibitor-Induced Myasthenia Gravis in a Patient with Advanced NSCLC and Remote History of Thymoma. ( 31085042 )
2019
13
Isolated bilateral triceps muscle weakness as a presenting complaint in myasthenia gravis: A review. ( 31085879 )
2019
14
Pembrolizumab associated ocular myasthenia gravis. ( 30859689 )
2019
15
Eculizumab improves fatigue in refractory generalized myasthenia gravis. ( 30905021 )
2019
16
Pulmonary Function Testing in Elderly Patients Treated for a Myasthenia Gravis Exacerbation. ( 30915185 )
2019
17
Autoimmune attack of the neuromuscular junction in myasthenia gravis: nicotinic acetylcholine receptors and other targets. ( 30916550 )
2019
18
An update on thymectomy in myasthenia gravis. ( 30917699 )
2019
19
Cytometric cell-based assays for anti-striational antibodies in myasthenia gravis with myositis and/or myocarditis. ( 30918333 )
2019
20
Rituximab as induction therapy in refractory myasthenia gravis: 18 month follow-up study. ( 30919039 )
2019
21
Neuronal intranuclear inclusion disease showing blepharoptosis and positive serum anti-acetylcholine receptor antibody without myasthenia gravis. ( 30925359 )
2019
22
A Neurologist's Perspective on Understanding Myasthenia Gravis: Clinical Perspectives of Etiologic Factors, Diagnosis, and Preoperative Treatment. ( 30927994 )
2019
23
A Neurologist's Perspective on Thymectomy for Myasthenia Gravis: Current Perspective and Future Trials. ( 30927995 )
2019
24
History of Thymectomy for Myasthenia Gravis. ( 30927996 )
2019
25
Surgical Approaches to Myasthenia Gravis: Perspective of Anatomy and Radicality in Surgery. ( 30927997 )
2019
26
Surgical Techniques for Myasthenia Gravis: Video-Assisted Thoracic Surgery. ( 30927998 )
2019
27
Surgical Techniques for Myasthenia Gravis: Robotic-Assisted Thoracoscopic Surgery. ( 30927999 )
2019
28
Technique for Myasthenia Gravis: Subxiphoid Approach. ( 30928001 )
2019
29
Surgical Decision Making: Thymoma and Myasthenia Gravis. ( 30928002 )
2019
30
Non-Myasthenia Gravis Immune Syndromes and the Thymus: Is There a Role for Thymectomy? ( 30928003 )
2019
31
Relation of HLA-DRB1 to IgG4 autoantibody and cytokine production in muscle-specific tyrosine kinase myasthenia gravis (MuSK-MG). ( 30929252 )
2019
32
Corrigendum to: "low and high doses of ursolic acid ameliorate experimental autoimmune myasthenia gravis through different pathways" [Journal of Neuroimmunology 281 (2015) 61-67]. ( 30929679 )
2019
33
Thymectomy in patients with myasthenia gravis increases the risk of autoimmune rheumatic diseases: a nationwide cohort study. ( 30189048 )
2019
34
Myasthenia gravis unmasked by imatinib. ( 30203413 )
2019
35
Functional exercise capacity evaluated by timed walk tests in myasthenia gravis. ( 30230561 )
2019
36
A tri-modal distribution of age-of-onset in female patients with myasthenia gravis is associated with the gender-related clinical differences. ( 30260722 )
2019
37
Ice pack test-an useful bedside test to diagnose myasthenia gravis. ( 30517761 )
2019
38
Concomitant myasthenia gravis, myositis, myocarditis and polyneuropathy, induced by immune-checkpoint inhibitors: A life-threatening continuum of neuromuscular and cardiac toxicity. ( 30533536 )
2019
39
Detection of human parvovirus B19 infection in the thymus of patients with thymic hyperplasia-associated myasthenia gravis. ( 29649594 )
2019
40
Myasthenia gravis appearing after thymectomy heralding recurrent thymoma. ( 29768973 )
2019
41
Perianesthetic Implications and Considerations for Myasthenia Gravis. ( 29980408 )
2019
42
Comparative study of computed tomography of normal and lymphoid follicular hyperplasia thymus in myasthenia gravis patients. ( 30651830 )
2019
43
High efficacy of rituximab for myasthenia gravis: a comprehensive nationwide study in Austria. ( 30649616 )
2019
44
Characteristics of obstructive sleep apnea in myasthenia gravis patients: a single center study. ( 30648206 )
2019
45
Assessment of pre and post-thymectomy myasthenia gravis. ( 30574849 )
2019
46
Case 261: Thymoma Embedded in Thymus with Pleural Implant in Myasthenia Gravis Lambert-Eaton Overlap Syndrome. ( 30571477 )
2019
47
Clinical features of laryngeal myasthenia gravis: A case series. ( 30497698 )
2019
48
Tacrolimus inhibits Th1 and Th17 responses in MuSK-antibody positive myasthenia gravis patients. ( 30472069 )
2019
49
Management of Myasthenia Gravis in Pregnancy. ( 30470270 )
2019
50
Pattern of Habitual Physical Exercise in Myasthenia Gravis Patients. ( 30452423 )
2019

Variations for Myasthenia Gravis Congenital

Expression for Myasthenia Gravis Congenital

Search GEO for disease gene expression data for Myasthenia Gravis Congenital.

Pathways for Myasthenia Gravis Congenital

GO Terms for Myasthenia Gravis Congenital

Sources for Myasthenia Gravis Congenital

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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