raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:98919

Miller Fisher syndrome

Synonyms: Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome · Fisher syndrome

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

A rare acquired peripheral neuropathy characterized by acute ophthalmoplegia, ataxia, and areflexia, typically manifesting with diplopia and unsteady gait, and generalized areflexia.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMiller Fisher syndromeCranial variant of GBS · Cranial variant of Guillain-Barré syndrome · Fisher syndrome
frSyndrome de Miller FisherSyndrome de Fisher · Variant crânien du SGB · Variant crânien du syndrome de Guillain-Barré
deMiller-Fisher-SyndromFisher-Syndrom · Guillain-Barré-Syndrom, kraniale Variante · Kraniale Variante des GBS
esSíndrome de Miller-FisherSíndrome de Fisher · Variante craneal del SGB · Variante craneal del síndrome de Guillain-Barré
itSindrome di Miller-FisherSindrome di Fisher · Sindrome di Guillain-Barré, variante cranica · Variante cranica di GBS
nlSyndroom van Miller-FisherCraniale variant van GBS · Craniale variant van syndroom van Guillain-Barré · Syndroom van Fisher
ptSíndrome Miller Fisher
plZespół Millera i FisheraWariant czaszkowy GBS · Wariant czaszkowy zespołu Guillaina i Barrégo · Zespół Fishera
csMiller-Fischerův syndromKraniální varianta GBS · Kraniální varianta Guillainova-Barrého syndromu · Fisherův syndrom · Kraniální varianta Guillain-Barrého syndromu
ukСиндром Міллера-ФішераКраніальний варіант GBS · Краніальний варіант синдрому Гійєна-Барре · Синдром Фішера
zhMiller Fisher综合征吉兰巴雷综合征颅骨型
trMiller Fisher sendromuFisher sendromu · GBS'nin kraniyal varyantı · Guillain-Barré sendromunun kraniyal varyantı

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10G61.0NTBTattributedvalidated
ICD-118C01.0NTBTindexvalidated
MONDO0005851Evalidated
MeSHD019846Evalidated
UMLSC0393799Evalidated
GARD3668Evalidated
MedDRA10049567Evalidated

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 (1):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Annual incidence1-9 / 1 000 0000.1 / 100 000EuropeValue and classValidated[EXPERT]
Point prevalence1-9 / 1 000 000—EuropeClass onlyNot yet validatedORPHANET

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

26 annotations · validated 2023-03-02
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0034122Anti-GQ1b antibody positivity
HP:0001284Areflexia
HP:0000544External ophthalmoplegia
Frequent (79-30%)
HP:0001251Ataxia
HP:0000651Diplopia
HP:0010845EEG with generalized slow activity
HP:0003457EMG abnormality
HP:0000666Horizontal nystagmus
HP:0002922Increased CSF protein concentration
HP:0007942Internal ophthalmoplegia
HP:0011499Mydriasis
Occasional (29-5%)
HP:0011347Abnormality of ocular abduction
HP:0009916Anisocoria
HP:0000622Blurred vision
HP:0001283Bulbar palsy
HP:0012229CSF pleocytosis
HP:0010628Facial palsy
HP:0001945Fever
HP:0002315Headache
HP:0003401Paresthesia
HP:0000613Photophobia
HP:0004372Reduced consciousness
HP:0002273Tetraparesis
Very rare (<4-1%)
HP:0002015Dysphagia
HP:0000508Ptosis
HP:0002013Vomiting

Run the differential on the 3 obligate / very frequent terms

Annotation source: 33825117[PMID]_1532603[PMID]_11320188[PMID]_8030396[PMID]

7

Sources for this card