ORPHA:280282
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Synonyms: PMLD1
- 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 GJC2 mutation | PMLD1 |
| fr | Maladie de Pelizaeus-Merzbacher-like par mutation de GJC2 | = en |
| de | Pelizaeus-Merzbacher-ähnliche Krankheit mit GJC2-Genmutationen | = en |
| es | Enfermedad similar a Pelizaeus-Merzbacher por una mutación en el gen GJC2 | Enfermedad de Pelizaeus-Merzbacher-like por una mutación en el gen GJC2 · PMLD1 |
| it | Pelizaeus-Merzbacher-simile da mutazione di GJC2 | = en |
| nl | Pelizaeus-Merzbacher-achtige ziekte door GJC2-mutatie | = en |
| pt | Doença de Pelizaeus-Merzbacher-like por mutação em GJC2 | PMLD |
| pl | Choroba podobna do choroby Pelizaeusa i Merzbachera z powodu mutacji GJC2 | = en |
| cs | Nemoc podobná Pelizaeusově-Merzbacherově, způsobená mutacemi v GJC2 genu | PMLD1 · Nemoc podobná Pelizaeus-Merzbacherově, způsobená mutacemi v GJC2 genu |
| uk | Хвороба Пеліцея-Мерцбахера, спричинена мутацією GJC2 | = en |
| zh | GJC2基因变异所致佩-梅样病 | = en |
| tr | GJC2 mutasyonuna bağlı Pelizaeus-Merzbacher-benzeri hastalık | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608804 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | LD90.2 | NTBT | index | validated |
| MONDO | 0012125 | E | validated | |
| MeSH | C563855 | E | validated | |
| UMLS | C1837355 | 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 |
|---|---|---|---|---|---|---|---|---|
| GJC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17494 | ENSG00000198835 | 608803 | 1q42.13 | gap junction protein gamma 2 | 22669416[PMID]_24374284[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/280282
- This record as JSON: /data/d/280282.json