ORPHA:280210
Pelizaeus-Merzbacher disease, connatal form
Synonyms: Connatal PMD · Pelizaeus-Merzbacher disease type II · Severe PMD
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pelizaeus-Merzbacher disease, connatal form | Connatal PMD · Pelizaeus-Merzbacher disease type II · Severe PMD |
| fr | Maladie de Pelizaeus-Merzbacher, forme néonatale | Maladie de Pelizaeus-Merzbacher type II · PMD néonatale · PMD sévère |
| de | Pelizaeus-Merzbacher-Krankheit, konnatale Form | PMD, konnataler Typ · PMD, schwere Form · Pelizaeus-Merzbacher-Krankheit, kongenitale Form, Type II |
| es | Enfermedad de Pelizaeus-Merzbacher, forma connatal | Enfermedad de Pelizaeus-Merzbacher connatal tipo II · PMD connatal · PMD grave |
| it | Malattia di Pelizaeus-Merzbacher, forma connatale | Malattia di Pelizaeus-Merzbacher, tipo II connatale · PMD connatale · PMD grave |
| nl | Ziekte van Pelizaeus-Merzbacher, connatale vorm | Connatale PMD · Ernstige PMD · Type II connatale ziekte van Pelizaeus-Merzbacher |
| pt | Doença de Pelizaeus-Merzbacher, forma neonatal | Doença de Pelizaeus-Merzbacher neonatal, tipo II · PMD grave · PMD neonatal |
| pl | Choroba Pelizaeusa i Merzbachera, postać wrodzona | Choroba Pelizaeusa i Merzbachera typu II · Ciężka PMD · Wrodzona PMD |
| cs | Pelizaeusova-Merzbacherova nemoc, konatální forma | Konatální PMD · Pelizaeusova-Merzbacherova nemoc, typ II · Těžký PMD · Pelizaeus-Merzbacherova nemoc, konatální forma · Pelizaeus-Merzbacherova nemoc, typ II |
| uk | Хвороба Пеліцея-Мерцбахера, коннатальна форма | Коннатальна PMD · Хвороба Пеліцея-Мерцбахера, тип II · Важка PMD |
| zh | 先天型Pelizaeus-Merzbacher病（简称佩-梅病） | II型先天性us-Merzbacher病（简称佩-梅病） |
| tr | Pelizaeus-Merzbacher hastalığı, konnatal formu | Ağır PMD · Konnatal PMD · Pelizaeus-Merzbacher hastalığı tipi II |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 312080 | NTBT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 8A44.0 | NTBT | index | validated |
| MONDO | 0017221 | E | validated | |
| UMLS | C5679776 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:702Pelizaeus-Merzbacher disease
rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9086 | ENSG00000123560 | 300401 | Xq22.2 | proteolipid protein 1 | 20301361[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.03 / 100 000 | Europe | Value and class | Validated | [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.
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HPO phenotypes
27 annotations · validated 2020-10-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012447 | Abnormal myelination | |
| HP:0006808 | Cerebral hypomyelination | |
| HP:0002171 | Gliosis | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000639 | Nystagmus | |
| Frequent (79-30%) | ||
| HP:0430015 | Abnormal morphology of musculature of pharynx | |
| HP:0001344 | Absent speech | |
| HP:0001251 | Ataxia | |
| HP:0040330 | Confluent hyperintensity of cerebral white matter on MRI | |
| HP:0001260 | Dysarthria | |
| HP:0031954 | Dystonic gait | |
| HP:0004302 | Functional motor deficit | |
| HP:0001252 | Hypotonia | |
| HP:0002540 | Inability to walk | |
| HP:0006511 | Laryngeal stridor | |
| HP:0001302 | Pachygyria | |
| HP:0012043 | Pendular nystagmus | |
| HP:0002421 | Poor head control | |
| HP:0030187 | Titubation | |
| Occasional (29-5%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001508 | Failure to thrive | |
| HP:0001288 | Gait disturbance | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0002878 | Respiratory failure | |
| HP:0004322 | Short stature | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301361[PMID]_19396823[PMID]_32809357[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280210
- This record as JSON: /data/d/280210.json