ORPHA:280270
Pelizaeus-Merzbacher-like disease
Synonyms: PMLD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pelizaeus-Merzbacher-like disease | PMLD |
| fr | Maladie de Pelizaeus-Merzbacher-like | = en |
| de | Pelizaeus-Merzbacher-ähnliche Krankheit | = en |
| es | Enfermedad similar a Pelizaeus-Merzbacher | Enfermedad de Pelizaeus-Merzbacher-like · PMLD |
| it | Malattia Pelizaeus-Merzbacher-simile | = en |
| nl | Pelizaeus-Merzbacher-achtige ziekte | = en |
| pt | Doença Pelizaeus-Merzbacher-like | = en |
| pl | Choroba podobna do choroby Pelizaeusa i Merzbachera | = en |
| cs | Nemoc podobná Pelizaeusově-Merzbacherově | PMLD · Nemoc podobná Pelizaeus-Merzbacherově |
| uk | Хвороба Пеліцея-Мерцбахера | = en |
| zh | 佩-梅样病 | = en |
| tr | Pelizaeus-Merzbacher-benzeri hastalık | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260600 | BTNT | validated | |
| OMIM | 300523 | BTNT | validated | |
| OMIM | 608804 | BTNT | validated | |
| OMIM | 612233 | BTNT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | LD90.2 | E | specific | validated |
| MONDO | 0017226 | E | validated | |
| UMLS | C4274084 | E | validated | |
| GARD | 12300 | 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:68356Leukodystrophy
rare genetic diseases; rare neurological diseases
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Genes
1 direct · 3 via subtypes| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAL | Disease-causing germline mutation(s) in | Assessed | HGNC:6817 | ENSG00000172005 | 188860 | 2q11.1 | mal, T cell differentiation protein (MAL blood group) | 35217805[PMID] |
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| AIMP1 | ORPHA:280293Pelizaeus-Merzbacher-like disease due to AIMP1 mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:10648 | ENSG00000164022 | 603605 | 4q24 | aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | 21092922[PMID] |
| GJC2 | ORPHA:280282Pelizaeus-Merzbacher-like disease due to GJC2 mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:17494 | ENSG00000198835 | 608803 | 1q42.13 | gap junction protein gamma 2 | 22669416[PMID]_24374284[PMID] |
| HSPD1 | ORPHA:280288Pelizaeus-Merzbacher-like disease due to HSPD1 mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:5261 | ENSG00000144381 | 118190 | 2q33.1 | heat shock protein family D (Hsp60) member 1 | 18571143[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280270
- This record as JSON: /data/d/280270.json