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
HLA typing using next-generation sequencing for Chinese juvenile- and adult-onset myasthenia gravis patients. ( 30595166 )
2019
2
New onset of seropositive generalized myasthenia gravis following intravesical bacille Calmette-Guerin treatment for bladder cancer: A case study. ( 30144311 )
2019
3
Gestational Gigantomastia in the Setting of Myasthenia Gravis. ( 30956501 )
2019
4
See-Saw Relationship and its Reversal after Immunotherapy in a Case of Graves' Disease with Coexisting Myasthenia Gravis. ( 30765989 )
2019
5
A Co-Occurrence of Serologically Proven Myasthenia Gravis and Pharyngeal-Cervical-Brachial Variant of Guillain-Barré Syndrome. ( 31080681 )
2019
6
Autologous hematopoietic stem cell transplantation in a patient with refractory seropositive myasthenia gravis: A case report. ( 30639064 )
2019
7
Seronegative Myasthenia Gravis in Association with Human T-Lymphotropic Virus Type 1 and Hepatitis C. ( 30787860 )
2019
8
A prospective, double-blind, randomized, placebo-controlled study on the efficacy and safety of influenza vaccination in myasthenia gravis. ( 30660402 )
2019
9
Thoracoscopic thymectomy for juvenile myasthenia gravis. ( 30729982 )
2019
10
Systemic Lupus Erythematosus and Myasthenia Gravis: A Rare Association. ( 30814797 )
2019
11
Myasthenia gravis and large granular lymphocytic leukemia. ( 30001897 )
2019
12
Myasthenia Gravis Associated With Orbital Marginal Zone Lymphoma. ( 30648982 )
2019
13
Autoimmune myositis and myasthenia gravis resulting from a combination therapy with nivolumab and ipilimumab for metastatic melanoma. ( 30986169 )
2019
14
Successful Treatment of Myasthenia Gravis Following PD-1/CTLA-4 Combination Checkpoint Blockade in a Patient With Metastatic Melanoma. ( 30828569 )
2019
15
A case of facioscapulohumeral muscular dystrophy and myasthenia gravis with positivity of anti-Ach receptor antibody: a fortuitous association? ( 30215155 )
2019
16
Incidence, Epidemiology, and Transformation of Ocular Myasthenia Gravis: A Population Based Study. ( 31077669 )
2019
17
Inhibition of ROCK activity regulates the balance of Th1, Th17 and Treg cells in myasthenia gravis. ( 31078707 )
2019
18
Repetitive ocular vestibular evoked myogenic potential stimulation for the diagnosis of myasthenia gravis: Optimization of stimulation parameters. ( 31082787 )
2019
19
Myasthenia gravis presentation and treatment variations: A case study approach. ( 31083009 )
2019
20
Immune Checkpoint Inhibitor-Induced Myasthenia Gravis in a Patient with Advanced NSCLC and Remote History of Thymoma. ( 31085042 )
2019
21
Isolated bilateral triceps muscle weakness as a presenting complaint in myasthenia gravis: A review. ( 31085879 )
2019
22
Efficacy of high-dose intravenous methylprednisolone therapy for ocular myasthenia gravis. ( 31100651 )
2019
23
Effect of low-dose rituximab treatment on T- and B-cell lymphocyte imbalance in refractory myasthenia gravis. ( 31100692 )
2019
24
Global pathway view analysis of microRNA clusters in myasthenia gravis. ( 30664201 )
2019
25
Altered naive CD4+ T cell homeostasis in myasthenia gravis and thymoma patients. ( 30686546 )
2019
26
Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial. ( 30692052 )
2019
27
Thymectomy in myasthenia gravis: when, why, and how? ( 30692053 )
2019
28
Autoantibodies in acquired myasthenia gravis: Clinical phenotype and immunological correlation. ( 30693486 )
2019
29
Profiling of patient-specific myocytes identifies altered gene expression in the ophthalmoplegic subphenotype of myasthenia gravis. ( 30696470 )
2019
30
Inflammatory myopathy with myasthenia gravis: Thymoma association and polymyositis pathology. ( 30697585 )
2019
31
Translation and validation of the arabic version of the myasthenia gravis activities of daily living scale. ( 30697753 )
2019
32
The evidence is stacked against thymectomy in MuSK myasthenia gravis. ( 30701589 )
2019
33
MicroRNA-653 Inhibits Thymocyte Proliferation and Induces Thymocyte Apoptosis in Mice with Autoimmune Myasthenia Gravis by Downregulating TRIM9. ( 30703767 )
2019
34
Eculizumab improved weakness and taste disorder in thymoma-associated generalized myasthenia gravis with anti-striational antibodies: A case report. ( 30705973 )
2019
35
Short-Term Ultramicronized Palmitoylethanolamide Therapy in Patients with Myasthenia Gravis: a Pilot Study to Possible Future Implications of Treatment. ( 30706796 )
2019
36
Pembrolizumab-induced Ocular Myasthenia Gravis with Anti-titin Antibody and Necrotizing Myopathy. ( 30713313 )
2019
37
Acquired neuromyotonia in thymoma-associated myasthenia gravis: a clinical and serological study. ( 30714278 )
2019
38
Effect of thymectomy in elderly patients with non-thymomatous generalized myasthenia gravis. ( 30726532 )
2019
39
IL-2 gene polymorphisms affect tacrolimus response in myasthenia gravis. ( 30729267 )
2019
40
Treatment outcome in juvenile-onset myasthenia gravis. ( 30734335 )
2019
41
Alteration in gene expression profile of thymomas with or without myasthenia gravis linked with the nuclear factor-kappaB/autoimmune regulator pathway to myasthenia gravis pathogenesis. ( 30734484 )
2019
42
Cognitive dysfunction in mice with passively induced MuSK antibody seropositive myasthenia gravis. ( 30738333 )
2019
43
Thymomatous myasthenia gravis: novel association with HLA DQB1*05:01 and strengthened evidence of high clinical and serological severity. ( 30741378 )
2019
44
Cladribine in myasthenia gravis: a case urging for prudence. ( 30758837 )
2019
45
Therapies Directed Against B-Cells and Downstream Effectors in Generalized Autoimmune Myasthenia Gravis: Current Status. ( 30762205 )
2019
46
Long-term safety and efficacy of eculizumab in generalized myasthenia gravis. ( 30767274 )
2019
47
Letter to editors regarding the article "Predictive score for oral corticosteroid-induced initial worsening of seropositive generalized myasthenia gravis". ( 30777370 )
2019
48
Italian recommendations for the diagnosis and treatment of myasthenia gravis. ( 30778878 )
2019
49
Excellent response to therapeutic plasma exchange in myasthenia gravis patients irrespective of antibody status. ( 30779438 )
2019
50
Who will benefit from thymectomy for myasthenia gravis? Is there any role for this procedure in elderly patients? ( 30788351 )
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
Content
Loading form....