ORPHA:280229
Pelizaeus-Merzbacher disease in female carriers
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adult
- Status
- active
Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the <i>PLP1</i> gene (Xq22).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pelizaeus-Merzbacher disease in female carriers | |
| fr | Maladie de Pelizaeus-Merzbacher chez les femmes porteuses | |
| de | Pelizaeus-Merzbacher-Krankheit, weibliche Überträgerinnen | |
| es | Enfermedad de Pelizaeus-Merzbacher en mujeres portadoras | |
| it | Malattia di Pelizaeus-Merzbacher nelle donne portatrici | |
| nl | Ziekte van Pelizaeus-Merzbacher bij vrouwelijke dragers | |
| pt | Doença de Pelizaeus-Merzbacher em portadores do sexo feminino | |
| pl | Choroba Pelizaeusa i Merzbachera u kobiet nosicielek | |
| cs | Pelizaeusova-Merzbacherova nemoc u žen přenašeček | Pelizaeus-Merzbacherova nemoc u žen přenašeček |
| uk | Хвороба Пеліцея-Мерцбахера у жінок-носіїв | |
| zh | 女性携带的佩-梅病 | |
| tr | Kadın taşıyıcılarda Pelizaeus-Merzbacher hastalığı |
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 | 0017224 | E | validated | |
| UMLS | C5438815 | 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 | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
28 annotations · validated 2020-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Occasional (29-5%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0010936 | Abnormality of the lower urinary tract | |
| HP:0030784 | Anomia | |
| HP:0003487 | Babinski sign | |
| HP:0003429 | CNS hypomyelination | |
| HP:0032044 | Decreased vigilance | |
| HP:0000490 | Deeply set eye | |
| HP:0002376 | Developmental regression | |
| HP:0001288 | Gait disturbance | |
| HP:0002197 | Generalized-onset seizure | |
| HP:0001510 | Growth delay | |
| HP:0032588 | Hand apraxia | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0001347 | Hyperreflexia | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0002540 | Inability to walk | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001268 | Mental deterioration | |
| HP:0011800 | Midface retrusion | |
| HP:0011342 | Mild global developmental delay | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0000011 | Neurogenic bladder | |
| HP:0007413 | Nevus flammeus of the forehead | |
| HP:0000639 | Nystagmus | |
| HP:0002313 | Spastic paraparesis | |
Annotation source: 26279330[PMID]_21623770[PMID]_25831654[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280229
- This record as JSON: /data/d/280229.json