ORPHA:280224
Pelizaeus-Merzbacher disease, transitional form
Synonyms: Transitional PMD
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pelizaeus-Merzbacher disease, transitional form | Transitional PMD |
| fr | Maladie de Pelizaeus-Merzbacher, forme transitoire | PMD transitoire |
| de | Pelizaeus-Merzbacher-Krankheit, transitionale Form | PMD, intermediärer Typ · Pelizaeus-Merzbacher-Krankheit, Übergangsform |
| es | Enfermedad de Pelizaeus-Merzbacher, forma transitoria | PMD transitoria |
| it | Malattia di Pelizaeus-Merzbacher, forma transitoria | PMD transitoria |
| nl | Ziekte van Pelizaeus-Merzbacher, overgangsvorm | Overgangs-PMD · Ziekte van Pelizaeus-Merzbacher, transitionele vorm |
| pt | Doença de Pelizaeus-Merzbacher, forma transitória | PMD transitória |
| pl | Choroba Pelizaeusa i Merzbachera, postać przejściowa | Przejściowa PMD |
| cs | Pelizaeusova-Merzbacherova nemoc, přechodná forma | Přechodná PMD · Pelizaeus-Merzbacherova nemoc, přechodná forma |
| uk | Хвороба Пеліцея-Мерцбахера, перехідна форма | Перехідний PMD |
| zh | 中间型佩-梅病 | 传统型PMD |
| tr | Pelizaeus-Merzbacher hastalığı, geçiş formu | Transisyonel PMD |
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 | 0017223 | E | validated | |
| UMLS | C0751917 | 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
5 annotations · validated 2020-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003429 | CNS hypomyelination | |
| HP:0000639 | Nystagmus | |
| Frequent (79-30%) | ||
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001285 | Spastic tetraparesis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 16778599[PMID]_20301361[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280224
- This record as JSON: /data/d/280224.json