ORPHA:280293
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
- 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 AIMP1 mutation | |
| fr | Maladie de Pelizaeus-Merzbacher-like par mutation de AIMP1 | |
| de | Pelizaeus-Merzbacher-ähnliche Krankheit mit AIMP1-Genmutationen | |
| es | Enfermedad similar a Pelizaeus-Merzbacher por una mutación en el gen AIMP1 | |
| it | Pelizaeus-Merzbacher-simile da mutazioe di AIMP1 | |
| nl | Pelizaeus-Merzbacher-achtige ziekte door AIMP1-mutatie | |
| pt | Doença de Pelizaeus-Merzbacher-like por mutação em AIMP1 | |
| pl | Choroba podobna do choroby Pelizaeusa i Merzbachera z powodu mutacji AIMP1 | |
| cs | Nemoc podobná Pelizaeusově-Merzbacherově nemoci, způsobená AIMP1 mutací | Nemoc podobná Pelizaeus-Merzbacherově nemoci, způsobená AIMP1 mutací |
| uk | Хвороба Пеліцея-Мерцбахера, спричинена мутацією AIMP1 | |
| zh | AIMP1基因变异所致佩-梅样病 | |
| tr | AIMP1 mutasyonuna bağlı Pelizaeus-Merzbacher-benzeri hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260600 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | LD90.2 | NTBT | index | validated |
| MONDO | 0009843 | E | validated | |
| UMLS | C5396702 | E | validated | |
| GARD | 4266 | 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 |
|---|---|---|---|---|---|---|---|---|
| AIMP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10648 | ENSG00000164022 | 603605 | 4q24 | aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | 21092922[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/280293
- This record as JSON: /data/d/280293.json