ORPHA:702
Pelizaeus-Merzbacher disease
Synonyms: Diffuse familial brain sclerosis · PMD · Pelizaeus-Merzbacher brain sclerosis · Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant, X-linked recessive
- Age of onset
- All ages
- Status
- active
Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pelizaeus-Merzbacher disease | Diffuse familial brain sclerosis · PMD · Pelizaeus-Merzbacher brain sclerosis · Sudanophilic leukodystrophy, Paelizeus-Merzbacher type |
| fr | Maladie de Pelizaeus-Merzbacher | Leucodystrophie sudanophile de Pelizaeus-Merzbacher · Sclérose cérébrale de Pelizaeus-Merzbacher · Sclérose cérébrale diffuse familiale |
| de | Pelizaeus-Merzbacher-Krankheit | Hirnsklerose, diffuse familiäre · Leukodystrophie, sudanophile, Typ Pelizeus-Merzbacher · Pelizaeus-Merzbacher Hirnsklerose |
| es | Enfermedad de Pelizaeus-Merzbacher | |
| it | Malattia di Pelizaeus-Merzbacher | |
| nl | Ziekte van Pelizaeus-Merzbacher | Diffuse familiale hersensclerose · Hersensclerose van Pelizaeus-Merzbacher · PMD · Sudanofiele leukodystrofie, Paelizeus-Merzbacher-type |
| pt | Disease Pelizaeus-Merzbacher | |
| pl | Choroba Pelizaeusa i Merzbachera | PMD |
| cs | Pelizaeusova-Merzbacherova nemoc | Difuzní familiární skleróza mozku · PMD · Pelizaeusova-Merzbacherova skleróza mozku · Sudanofilní leukodystrodie, Pelizaeusův-Merzbacherův typ · Syndrom Pelizaeusův-Merzbacherův · Pelizaeus-Merzbacherova nemoc · Pelizaeus-Merzbacherova skleróza mozku · Sudanofilní leukodystrodie, Pelizaeus-Merzbacherův typ · Syndrom Pelizaeus-Merzbacherův |
| uk | Хвороба Пеліцеуса-Мерцбахера | Дифузний сімейний склероз головного мозку · Склероз головного мозку Пеліцеуса-Мерцбахера · PMD · Суданофільна лейкодистрофія, тип Пеліцеуса-Мерцбахера |
| zh | 佩-梅病 | 嗜苏丹型脑白质营养不良，Paelizeus-Merzbacher型 |
| tr | Pelizaeus-Merzbacher hastalığı | PMD · Yaygın ailesel beyin sklerozu · Pelizaeus-Merzbacher beyin sklerozu · Sudanofilik lökodistrofi, Paelizeus-Merzbacher tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 213900 | BTNT | validated | |
| OMIM | 312080 | E | validated | |
| ICD-10 | E75.2 | NTBT | index | validated |
| ICD-11 | 8A44.0 | E | specific | validated |
| MONDO | 0010714 | E | validated | |
| MeSH | D020371 | E | validated | |
| UMLS | C0205711 | E | validated | |
| GARD | 4265 | E | validated | |
| MedDRA | 10067610 | 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 (7):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:519341Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare ophthalmic disorders - ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare genetic diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
Codes that Orphanet moved or referred to this one:
- ORPHA:85333X-linked intellectual disability-spastic paraplegia with iron deposits syndrome moved to · inactive
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Genes
0 direct · 5 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PLP1 | ORPHA:280210Pelizaeus-Merzbacher disease, connatal form | Disease-causing germline mutation(s) in | Assessed | HGNC:9086 | ENSG00000123560 | 300401 | Xq22.2 | proteolipid protein 1 | 20301361[PMID] |
| PLP1 | ORPHA:280219Pelizaeus-Merzbacher disease, classic form | Disease-causing germline mutation(s) in | Assessed | HGNC:9086 | ENSG00000123560 | 300401 | Xq22.2 | proteolipid protein 1 | 20301361[PMID] |
| PLP1 | ORPHA:280224Pelizaeus-Merzbacher disease, transitional form | Disease-causing germline mutation(s) in | Assessed | HGNC:9086 | ENSG00000123560 | 300401 | Xq22.2 | proteolipid protein 1 | 20301361[PMID] |
| PLP1 | ORPHA:280229Pelizaeus-Merzbacher disease in female carriers | Disease-causing germline mutation(s) in | Assessed | HGNC:9086 | ENSG00000123560 | 300401 | Xq22.2 | proteolipid protein 1 | 20301361[PMID] |
| PLP1 | ORPHA:280234Null syndrome | 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
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.25 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.35 / 100 000 | United States | Value and class | Not yet validated | 20301361[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.13 / 100 000 | Germany | Value and class | Validated | 9286459[PMID] |
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
32 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0004326 | Cachexia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002376 | Developmental regression | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001288 | Gait disturbance | |
| HP:0001252 | Hypotonia | |
| HP:0001387 | Joint stiffness | |
| HP:0002808 | Kyphosis | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0001622 | Premature birth | |
| HP:0002650 | Scoliosis | |
| HP:0001257 | Spasticity | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0002607 | Bowel incontinence | |
| HP:0001266 | Choreoathetosis | |
| HP:0001332 | Dystonia | |
| HP:0000365 | Hearing impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0009830 | Peripheral neuropathy | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/702
- This record as JSON: /data/d/702.json