ORPHA:696063
PLIN4-related distal myopathy
Synonyms: MRUPAV · Myopathy with rimmed ubiquitin-positive autophagic vacuolation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PLIN4-related distal myopathy | MRUPAV · Myopathy with rimmed ubiquitin-positive autophagic vacuolation |
| fr | Myopathie distale associée à PLIN4 | |
| de | Myopathie, distale, PLIN4-assoziierte | MRUPAV · Myopathie mit geränderten Ubiquitin-positiven autophagischen Vakuolisierungen |
| es | Miopatía distal asociada al gen PLIN4 | MRUPAV · Miopatía con vacuolas autofágicas ribeteadas ubiquitina-positivas · Miopatía con vacuolas ribeteadas autofágicas ubiquitina-positivas |
| it | Miopatia distale correlata a PLIN4 | MRUPAV · Miopatia con vacuolizzazione autofagica cerchiata positiva per l'ubiquitina |
| nl | PLIN4-gerelateerde distale myopathie | MRUPAV · Myopathie met omrande ubiquitinepositieve autofagische vacuolisatie |
| pt | PLIN4-related myopathy | |
| pl | PLIN4-related distal myopathy | = en |
| cs | PLIN4-related distal myopathy | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601846 | 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:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLIN4 | Disease-causing germline mutation(s) in | Assessed | HGNC:29393 | ENSG00000167676 | 613247 | 19p13.3 | perilipin 4 | 35499779[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 35499779[PMID]_37145156[PMID]_15236412[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 35499779[PMID]_37145156[PMID]_15236412[PMID]_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/696063
- This record as JSON: /data/d/696063.json