raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:280219

Pelizaeus-Merzbacher disease, classic form

Synonyms: Classic PMD

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
X-linked recessive
Age of onset
Infancy, Neonatal
Status
active

The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enPelizaeus-Merzbacher disease, classic formClassic PMD
frMaladie de Pelizaeus-Merzbacher, forme classiquePMD classique
dePelizaeus-Merzbacher-Krankheit, klassische FormPMD, klassischer Typ
esEnfermedad de Pelizaeus-Merzbacher, forma clásicaPMD clásica
itMalattia di Pelizaeus-Merzbacher, forma classicaPMD classica
nlZiekte van Pelizaeus-Merzbacher, klassieke vormKlassieke PMD
ptDoença de Pelizaeus-Merzbacher, forma clássicaPMD clássica
plChoroba Pelizaeusa i Merzbachera, postać klasycznaKlasyczna PMD
csPelizaeusova-Merzbacherova nemoc, klasická formaKlasická PMD · Pelizaeus-Merzbacherova nemoc, klasická forma
ukХвороба Пеліцея-Мерцбахера, класична формаКласичний PMD
zh经典型佩-梅病经典型PMD
trPelizaeus-Merzbacher hastalığı, klasik formKlasik PMD

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM312080NTBTvalidated
ICD-10E75.2NTBTattributedvalidated
ICD-118A44.0NTBTindexvalidated
MONDO0017222Evalidated
UMLSC0751916Evalidated

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

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
PLP1Disease-causing germline mutation(s) inAssessedHGNC:9086ENSG00000123560300401Xq22.2proteolipid protein 120301361[PMID]
5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalence1-9 / 1 000 0000.17 / 100 000EuropeValue and classValidated[EXPERT]

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

27 annotations · validated 2020-10-06
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0001251Ataxia
HP:0006808Cerebral hypomyelination
HP:0040330Confluent hyperintensity of cerebral white matter on MRI
HP:0031936Delayed ability to walk
HP:0000750Delayed speech and language development
HP:0011203EEG with abnormally slow frequencies
HP:0001263Global developmental delay
HP:0001256Intellectual disability, mild
HP:0000639Nystagmus
Frequent (79-30%)
HP:0007256Abnormal pyramidal sign
HP:0007377Abnormality of somatosensory evoked potentials
HP:0002167Abnormality of speech or vocalization
HP:0002305Athetosis
HP:0008936Axial hypotonia
HP:0100543Cognitive impairment
HP:0025336Delayed ability to sit
HP:0001332Dystonia
HP:0001288Gait disturbance
HP:0002346Head tremor
HP:0001252Hypotonia
HP:0002421Poor head control
HP:0001285Spastic tetraparesis
HP:0001257Spasticity
HP:0030187Titubation
Occasional (29-5%)
HP:0002071Abnormality of extrapyramidal motor function
HP:0031954Dystonic gait
HP:0002310Orofacial dyskinesia

Run the differential on the 9 obligate / very frequent terms

Annotation source: 20301361[PMID]_18190592[PMID]_32809357[PMID]_24519770[PMID]

7

Sources for this card