raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:589

Myasthenia gravis

Synonyms: Acquired myasthenia · Autoimmune myasthenia gravis

Type
Disease
Group
Disorder
Inheritance
Multigenic/multifactorial, Not applicable
Age of onset
All ages
Status
active

A rare autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMyasthenia gravisAcquired myasthenia · Autoimmune myasthenia gravis
frMyasthénie auto-immuneMyasthenia gravis · Myasthénie acquise
deMyasthenia gravisMyasthenia gravis, autoimmune · Myasthenie, erworbene
esMiastenia graveMiastenia adquirida · Miastenia autoinmune · Miastenia gravis
itMiastenia graveMiastenia acquisita · Miastenia autoimmune grave
nlMyasthenia gravisAuto-immune myasthenia gravis · Verworven myasthenie
ptMiastenia gravis
plMiasteniaAutoimmunologiczna miastenia gravis · Miastenia nabyta
csMyasthenia gravisZískaná myasthenie · Autoimunitní myasthenia gravis
ukМіастенія гравісНабута міастенія · Автоімунна міастенія
zh重症肌无力自身免疫性重症肌无力
trMiyastenia GravisEdinsel miyasteni · Otoimmün miyastenia gravis

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM159400BTNTvalidated
OMIM254200Evalidated
OMIM607085BTNTvalidated
ICD-10G70.0Especificvalidated
ICD-118C60Especificvalidated
MONDO0009688Evalidated
MeSHD009157Evalidated
UMLSC0026896Evalidated
GARD7122Evalidated
MedDRA10028417Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

Children (3):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

26 records
TypeClassValueAreaQualificationValidationSource
Annual incidence1-9 / 1 000 0000.9 / 100 000United StatesValue and classValidated8909435[PMID]
Annual incidence1-9 / 100 0001.7 / 100 000EuropeValue and classValidated20130418[PMID]_[EXPERT]_ ORPHANET
Point prevalence1-5 / 10 00020 / 100 000EuropeValue and classValidated17986328[PMID]_[EXPERT]_European Medicines Agency 2018[OTHER]
Point prevalence1-9 / 100 0007.77 / 100 000WorldwideValue and classValidated20565885[PMID]
Point prevalence1-5 / 10 00020 / 100 000CanadaValue and classValidated14664466[PMID]
Annual incidence1-9 / 100 0002.1 / 100 000SpainValue and classValidated12654975[PMID]
Lifetime Prevalence1-5 / 10 00040 / 100 000United KingdomValue and classValidated10733998[PMID]
Annual incidence1-9 / 100 0001.11 / 100 000United KingdomValue and classValidated9771771[PMID]
Point prevalence1-5 / 10 00015 / 100 000United KingdomValue and classValidated9771771[PMID]
Annual incidence1-9 / 100 0001.33 / 100 000SerbiaValue and classValidated23363926[PMID]
Point prevalence1-5 / 10 00017 / 100 000United StatesValue and classValidated8909435[PMID]
Point prevalence1-5 / 10 00031.8 / 100 000SerbiaValue and classValidated23363926[PMID]
Annual incidence1-9 / 100 0001.94 / 100 000ItalyValue and classValidated21757957[PMID]_20623298[PMID]_ ORPHANET
Point prevalence1-5 / 10 00015.7 / 100 000AustriaValue and classValidated23129486[PMID]
Annual incidence1-9 / 100 0002.5 / 100 000AustraliaValue and classValidated22469211[PMID]
Point prevalence1-5 / 10 00018.5 / 100 000ItalyValue and classValidated21757957[PMID]_ORPHANET
Annual incidence1-9 / 100 0002.1 / 100 000Taiwan, Province of ChinaValue and classValidated20523074[PMID]
Point prevalence1-5 / 10 00011.7 / 100 000AustraliaValue and classValidated22469211[PMID]
Annual incidence1-9 / 1 000 0000.74 / 100 000GreeceValue and classValidated11511710[PMID]
Point prevalence1-5 / 10 00014 / 100 000Taiwan, Province of ChinaValue and classValidated20523074[PMID]
Annual incidence1-9 / 1 000 0000.65 / 100 000CroatiaValue and classValidated9705586[PMID]
Point prevalence1-9 / 100 0007.8 / 100 000EstoniaValue and classValidated14638881[PMID]
Point prevalence1-9 / 100 0007.1 / 100 000GreeceValue and classValidated11511710[PMID]
Point prevalence1-9 / 100 0009.9 / 100 000CroatiaValue and classValidated9705586[PMID]
Point prevalence1-9 / 100 0003.2 / 100 000EgyptValue and classValidated20948236[PMID]
Annual incidence1-9 / 1 000 0000.53 / 100 000WorldwideValue and classValidated20565885[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

45 annotations · validated 2024-02-19
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0001324Muscle weakness
Frequent (79-30%)
HP:0000777Abnormality of the thymus
HP:0030208Acetylcholine receptor antibody positivity
HP:6000881Anti-DCC netrin 1 receptor antibody positivity
HP:5000048Anti-Kv1.4 antibody
HP:5000047Anti-ryanodine receptor antibody
HP:5000038Anti-titin antibody positivity
HP:0001283Bulbar palsy
HP:0003551Difficulty climbing stairs
HP:0000651Diplopia
HP:0001260Dysarthria
HP:0002015Dysphagia
HP:0001618Dysphonia
HP:0002094Dyspnea
HP:0030197Fatigable weakness of skeletal muscles
HP:0012378Fatigue
HP:0003690Limb muscle weakness
HP:0030210Muscle specific kinase antibody positivity
HP:0100614Myositis
HP:0000597Ophthalmoparesis
HP:0000508Ptosis
HP:0030006Single fiber EMG abnormality
HP:0003202Skeletal muscle atrophy
HP:0010516Thymus hyperplasia
HP:0030319Weakness of facial musculature
Occasional (29-5%)
HP:5000046Anti-Lrp4 antibody positivity
HP:0003076Glycosuria
HP:0000872Hashimoto thyroiditis
HP:0000365Hearing impairment
HP:0010780Hyperacusis
HP:0000836Hyperthyroidism
HP:0003401Paresthesia
HP:0008207Primary adrenal insufficiency
HP:0030880Raynaud phenomenon
HP:0002878Respiratory failure
HP:0001370Rheumatoid arthritis
HP:0002725Systemic lupus erythematosus
HP:0100522Thymoma
HP:0012473Tongue atrophy
Very rare (<4-1%)
HP:0001063Acrocyanosis
HP:0001878Hemolytic anemia
HP:0012115Hepatitis
HP:0000709Psychosis
HP:0012410Pure red cell aplasia
HP:0001250Seizure

Run the differential on the 1 obligate / very frequent terms

Annotation source: 35976295[PMID]_34064035[PMID]_31048702[PMID]_1603341[PMID]_26502757[PMID]_14257395[PMID]_5329432[PMID]

7

Sources for this card