MCID: MYS011
MIFTS: 36

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 53
Myasthenia Gravis Pseudoparalytica 53
Erb-Goldflam Syndrome 53
Myasthenia Gravis 73
Congenital Mg 53

Classifications:



External Ids:

UMLS 73 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 CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit). The drugs Mesna and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include thymus, t cells and b cells.

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 10.2
2 congenital myasthenic syndrome 10.2
3 hemolytic anemia 9.9
4 leukemia 9.9
5 muscular dystrophy 9.9

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


Acute Cystitis Hypothyroidism
Respiratory Failure Swallowing Disorders

Graphical network of the top 20 diseases related to Myasthenia Gravis Congenital:



Diseases related to Myasthenia Gravis Congenital

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, facial paresis, vertigo/dizziness, sleeplessness

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
Mesna Approved, Investigational Phase 1 3375-50-6 598
2
Methylprednisolone hemisuccinate Approved Phase 1 2921-57-5
3
Cyclophosphamide Approved, Investigational Phase 1 6055-19-2, 50-18-0 2907
4
Methylprednisolone Approved, Vet_approved Phase 1 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 1 50-24-8 5755
6
Prednisolone phosphate Approved, Vet_approved Phase 1 302-25-0
7
Prednisolone hemisuccinate Experimental Phase 1 2920-86-7
8 Autonomic Agents Phase 1
9 Neuroprotective Agents Phase 1
10 Antineoplastic Agents, Hormonal Phase 1
11 Protective Agents Phase 1
12 Hormones Phase 1
13 Prednisolone acetate Phase 1
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
15 Alkylating Agents Phase 1
16 Immunosuppressive Agents Phase 1
17 Immunologic Factors Phase 1
18 Methylprednisolone acetate Phase 1
19 glucocorticoids Phase 1
20 Antineoplastic Agents, Alkylating Phase 1
21 Gastrointestinal Agents Phase 1
22 Antirheumatic Agents Phase 1
23 Antiemetics Phase 1
24 Anti-Inflammatory Agents Phase 1
25 Hormone Antagonists Phase 1
26 Peripheral Nervous System Agents 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 73 / NDF-RT 51 :


Genetic Tests for Myasthenia Gravis Congenital

Anatomical Context for Myasthenia Gravis Congenital

MalaCards organs/tissues related to Myasthenia Gravis Congenital:

41
Thymus, T Cells, B Cells, Testes, Thyroid, Skeletal Muscle, Lung

Publications for Myasthenia Gravis Congenital

Articles related to Myasthenia Gravis Congenital:

(show top 50) (show all 2870)
# Title Authors Year
1
Presence of antibodies to striated muscle and acetylcholine receptor in association with occurrence of myasthenia gravis with myositis and myocarditis in a patient with melanoma treated with an anti-programmed death 1 antibody. ( 30528803 )
2019
2
Management of Myasthenia Gravis in Pregnancy. ( 30470270 )
2019
3
Concomitant myasthenia gravis, myositis, myocarditis and polyneuropathy, induced by immune-checkpoint inhibitors: A life-threatening continuum of neuromuscular and cardiac toxicity. ( 30533536 )
2019
4
Relapsed Myasthenia Gravis after Nivolumab Treatment. ( 29434145 )
2018
5
The thymidylate synthase enhancer region (TSER) polymorphism increases the risk of thymic lymphoid hyperplasia in patients with Myasthenia Gravis. ( 29162511 )
2018
6
Whole-exome sequencing reveals a rare interferon gamma receptor 1 mutation associated with myasthenia gravis. ( 29441481 )
2018
7
Occipitalis muscle: using for repetitive facial nerve stimulation in myasthenia gravis. ( 29428994 )
2018
8
Myasthenia gravis: the unmet needs of a paradigmatic autoimmune disease. ( 29943694 )
2018
9
Effect of Qiangji Jianli decoction on mitochondrial respiratory chain activity and expression of mitochondrial fusion and fission proteins in myasthenia gravis rats. ( 29872094 )
2018
10
Introducing Autoimmunity at the Synapse by a Novel Animal Model of Experimental Autoimmune Myasthenia Gravis. ( 29421431 )
2018
11
Antibody profile may predict outcome in ocular myasthenia gravis. ( 29858757 )
2018
12
Thymus imaging in myasthenia gravis - the relevance in clinical practice. ( 29424940 )
2018
13
Survival and mortality of adult-onset myasthenia gravis in the population of Belgrade, Serbia. ( 29572981 )
2018
14
Evaluating the temperature effects of ice and heat tests on ptosis due to Myasthenia Gravis. ( 29743585 )
2018
15
Perianesthetic Implications and Considerations for Myasthenia Gravis. ( 29980408 )
2018
16
3,4-Diaminopyridine for the treatment of myasthenia gravis with electrophysiological patterns of Lambert-Eaton myasthenic syndrome. ( 29402568 )
2018
17
An imbalance between regulatory T cells and T helper 17 cells in acetylcholine receptor-positive myasthenia gravis patients. ( 29405352 )
2018
18
Respiratory insufficiency from myasthenia gravis and polymyositis due to malignant thymoma triggering Takotsubo syndrome. ( 29883223 )
2018
19
Administration of bifidobacterium and lactobacillus strains modulates experimental myasthenia gravis and experimental encephalomyelitis in Lewis rats. ( 29854277 )
2018
20
Myasthenia Gravis Complicated with Peripheral T-cell Lymphoma, Not Otherwise Specified (PTCL-NOS), Following Thymectomy and Longstanding Tacrolimus Therapy. ( 29269644 )
2018
21
Efficacy of Gaze Photographs in Diagnosing Ocular Myasthenia Gravis. ( 29856158 )
2018
22
Serum Acetylcholine Receptor Antibodies Before the Clinical Onset of Myasthenia Gravis. ( 29865092 )
2018
23
Giant Cell Polymyositis and Myocarditis in a Patient With Thymoma and Myasthenia Gravis: A Postviral Autoimmune Process? ( 29850899 )
2018
24
Autologous Bone Marrow Transplantation for Polymyositis Combined with Myasthenia Gravis and Aplastic Anemia: A Case Report. ( 29805377 )
2018
25
Eculizumab: A Review in Generalized Myasthenia Gravis. ( 29435915 )
2018
26
Immune checkpoint-mediated myositis and myasthenia gravis: A case report and review of evaluation and management. ( 29903623 )
2018
27
Increased Proportion of Tc17 and Th17 Cells and Their Significant Reduction after Thymectomy May Be Related to Disease Progression in Myasthenia Gravis. ( 29414833 )
2018
28
Open source modular ptosis crutch for the treatment of myasthenia gravis. ( 29271663 )
2018
29
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis. ( 29928654 )
2018
30
Combined operation for thymoma with myasthenia gravis and coronary artery disease in an octogenarian. ( 29924495 )
2018
31
A Physical and Psychological Approach to Managing Fatigue in Myasthenia Gravis: A Pilot Study. ( 29889078 )
2018
32
Exogenous IL-9 Ameliorates Experimental Autoimmune Myasthenia Gravis Symptoms in Rats. ( 29944018 )
2018
33
Ocular vestibular evoked myogenic potential in patients with myasthenia gravis: A prospective clinical study. ( 28662779 )
2018
34
Muscle strength and psychiatric symptoms influence health-related quality of life in patients with myasthenia gravis. ( 29396072 )
2018
35
Thymoma-associated myasthenia gravis and LGI1-encephalitis, with nephrotic syndrome post-thymectomy. ( 29395322 )
2018
36
Concurrent inflammatory myopathy and myasthenia gravis with or without thymic pathology: A case series and literature review. ( 29958689 )
2018
37
Passive transfer models of myasthenia gravis with muscle-specific kinase antibodies. ( 29356029 )
2018
38
When myasthenia gravis is deemed refractory: clinical signposts and treatment strategies. ( 29403543 )
2018
39
Prognosis of Ocular Myasthenia Gravis in an Argentinian Population. ( 29428956 )
2018
40
Characteristics, incidence, and outcome of patients admitted to the intensive care unit with myasthenia gravis. ( 29413729 )
2018
41
Correction: Myasthenia gravis seronegative for acetylcholine receptor antibodies in South Korea: Autoantibody profiles and clinical features. ( 29958297 )
2018
42
Comparative clinical outcomes after thymectomy for myasthenia gravis: Thoracoscopic versus trans-sternal approach. ( 27810167 )
2018
43
Thymectomy in nonthymomatous myasthenia gravis - systematic review and meta-analysis. ( 29940999 )
2018
44
Clinical Characteristics of Juvenile Myasthenia Gravis in Southern China. ( 29535672 )
2018
45
Myasthenia gravis appearing after thymectomy heralding recurrent thymoma. ( 29768973 )
2018
46
Coexistence of myasthenia gravis and Lambert-Eaton myasthenic syndrome in a small cell lung cancer patient: A case report. ( 29879051 )
2018
47
Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis. ( 29865089 )
2018
48
A Well-Tolerated and Effective Antiepileptic Drug for Patients With Myasthenia Gravis at Last? ( 29432285 )
2018
49
Myasthenia gravis with antibodies to MuSK: an update. ( 29266255 )
2018
50
Dysphagia in myasthenia gravis: the tip of the Iceberg. ( 29417423 )
2018

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 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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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