ORPHA:280288
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Synonyms: Mitochondrial HSP60 chaperonopathy
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Pelizaeus-Merzbacher-like disease
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pelizaeus-Merzbacher-like disease due to HSPD1 mutation | Mitochondrial HSP60 chaperonopathy |
| fr | Maladie de Pelizaeus-Merzbacher-like par mutation de HSPD1 | Chaperonopathie mitochondriale HSP60 |
| de | Pelizaeus-Merzbacher-ähnliche Krankheit mit HSPD1-Genmutationen | Hsp60-Chaperonopathie, mitochondriale |
| es | Enfermedad similar a Pelizaeus-Merzbacher por una mutación en el gen HSPD1 | Chaperonopatía mitocondrial HSP60 · Enfermedad de Pelizaeus-Merzbacher-like por una mutación en el gen HSPD1 |
| it | Pelizaeus-Merzbacher-simile da mutazione di HSPD1 | Chaperonopatia mitocondriale HSP60 |
| nl | Pelizaeus-Merzbacher-achtige ziekte door HSPD1-mutatie | Mitochondriale Hsp60-chaperonopathie |
| pt | Doença de Pelizaeus-Merzbacher-like por mutação em HSPD1 | Chaperonopatia HSP60 mitocondrial |
| pl | Choroba podobna do choroby Pelizaeusa i Merzbachera z powodu mutacji HSPD1 | Mitochondrialna chaperonopatia HSP60 |
| cs | Nemoc podobná Pelizaeusově-Merzbacherově nemoci, způsobená HSPD1 mutací | Mitochondriální HSP60 chaperonopatie · Nemoc podobná Pelizaeus-Merzbacherově nemoci, způsobená HSPD1 mutací |
| uk | Хвороба Пеліцея-Мерцбахера, спричинена мутацією HSPD1 | Мітохондріальна шаперонопатія HSP60 |
| zh | HSPD1基因变异所致佩-梅样病 | 线粒体热休克蛋白伴随病 |
| tr | HSPD1 mutasyonuna bağlı Pelizaeus-Merzbacher-benzeri hastalık | Mitokondriyal HSP60 şaperonopati |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612233 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | LD90.2 | NTBT | index | validated |
| MONDO | 0012824 | E | validated | |
| MeSH | C567390 | E | validated | |
| UMLS | C2677109 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:280270Pelizaeus-Merzbacher-like disease
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSPD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5261 | ENSG00000144381 | 118190 | 2q33.1 | heat shock protein family D (Hsp60) member 1 | 18571143[PMID] |
5
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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280288
- This record as JSON: /data/d/280288.json