ORPHA:98916

Acute inflammatory demyelinating polyradiculoneuropathy

Synonyms: AIDP · Acute idiopathic demyelinating polyneuropathy · Acute inflammatory polyneuropathy · GBS, acute inflammatory demyelinating polyradiculoneuropathic form · Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form

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

A rare inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Acute inflammatory demyelinating polyradiculoneuropathy	AIDP · Acute idiopathic demyelinating polyneuropathy · Acute inflammatory polyneuropathy · GBS, acute inflammatory demyelinating polyradiculoneuropathic form · Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form
fr	Polyradiculonévrite démyélinisante inflammatoire aiguë	PDIA · Polyneuropathie démyélinisante idiopathique aiguë · Polyneuropathie inflammatoire aiguë · SGB, forme polyradiculonévrite démyélinisante inflammatoire aiguë · Syndrome de Guillain-Barré, forme polyradiculonévrite démyélinisante inflammatoire aiguë
de	Akute demyelinisierende inflammatorische Polyradikuloneuropathie	AIDP · Guillain-Barré-Syndrom, akute entzündliche polyradikuloneuritische Form · Polyneuropathie, akute demyelinisierende idiopathische · Polyneuropathie, akute inflammatorische
es	Polirradiculoneuropatía desmielinizante inflamatoria aguda	AIDP · GBS, forma polirradiculoneuropatía desmielinizante inflamatoria aguda · Polineuropatía desmielinizante idiopática aguda · Polineuropatía inflamatoria aguda · Síndrome de Guillain-Barré, forma polineuropatía desmielinizante idiopática aguda
it	Poliradiculoneuropatia demielinizzante infiammatoria acuta	Polineuropatia demielinizzante idiopatica acuta · Polineuropatia infiammatoria acuta · Sindrome di Guillain-Barré, forma poliradiculoneuropatica demielinizzante infiammatoria acuta · AIDP · GBS, forma poliradiculoneuropatica demielinizzante infiammatoria acuta
nl	Acute inflammatoire demyeliniserende polyradiculoneuropathie	AIDP · Acute idiopathische demyeliniserende polyneuropathie · Acute inflammatoire polyneuropathie · GBS, acute inflammatoire demyeliniserende polyradiculoneuropathische vorm · Syndroom van Guillain-Barré, acute inflammatoire demyeliniserende polyradiculoneuropathische vorm
pt	Polirradiculoneuropatia inflamatória aguda (aidp)
pl	Ostra zapalna poliradikuloneuropatia demielinizująca	AIDP · GBS, forma ostra zapalna demielinizująca poliradikuloneuropatyczna · Ostra idiopatyczna polineuropatia demielinizująca · Ostra zapalna polineuropatia · Zespół Guillaina i Barrégo, forma ostra zapalna demielinizująca poliradikuloneuropatyczna
cs	Akutní zánětlivá demyelinizační polyradikuloneuropatie	AIDP · Akutní idiopatická demyelinizační polyneuropatie · Akutní zánětlivá polyneuropatie · GBS, akutní zánětlivá demyelinizační polyradikuloneuropatická forma · Guillainův-Barrého syndrom, akutní zánětlivá demyelinizační polyradikuloneuropatická forma · Guillain-Barrého syndrom, akutní zánětlivá demyelinizační polyradikuloneuropatická forma
uk	Гостра запальна демієлінізуюча полірадикулонейропатія	Гостра ідіопатична демієлінізуюча полінейропатія · Гостра запальна полінейропатія · AIDP · GBS, гостра запальна демієлінізуюча полірадикулоневропатична форма · Синдром Гійєна-Барре, гостра запальна демієлінізуюча полірадикулоневропатична форма
zh	急性炎性脱髓鞘多发性神经根性神经病	吉兰巴雷综合征，急性炎性脱髓鞘多发性神经根型
tr	Akut inflamatuar demiyelinizan poliradikülonöropati	AIDP · Akut inflamatuar polinöropati · Akut idiyopatik demiyelinizan polinöropati · GBS, akut inflamatuar demiyelinizan poliradikülonöropatik form · Guillain-Barré sendromu, akut inflamatuar demiyelinizan poliradikülonöropatik form

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	139393	BTNT		validated
ICD-10	G61.0	NTBT	attributed	validated
ICD-11	8C01.0	E	specific	validated
MONDO	0020347	E		validated
UMLS	C4551910	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:2103Guillain-Barré syndrome
rare neurological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PMP22	Major susceptibility factor in	Assessed	HGNC:9118	ENSG00000109099	601097	17p12	peripheral myelin protein 22	12439896[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 100 000	3.1 / 100 000	Europe	Value and class	Validated	[EXPERT]_European Medicines Agency[OTHER]

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

HPO phenotypes

13 annotations · validated 2018-09-24

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0007131	Acute demyelinating polyneuropathy
Frequent (79-30%)
HP:0009053	Distal lower limb muscle weakness
HP:0002307	Drooling
HP:0012534	Dysesthesia
HP:0003445	EMG: neuropathic changes
HP:0001290	Generalized hypotonia
HP:0001265	Hyporeflexia
HP:0031162	Impaired oropharyngeal swallow response
HP:0001954	Recurrent fever
HP:0005335	Sleepy facial expression
HP:0002317	Unsteady gait
Occasional (29-5%)
HP:0003383	Onion bulb formation
Excluded (0%)
HP:0002066	Gait ataxia

Run the differential on the 1 obligate / very frequent terms

Annotation source: 12439896[PMID]_1929520[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/98916
This record as JSON: /data/d/98916.json