ORPHA:689021
Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome
Synonyms: Anoctamin-5-related myopathy pseudometabolic phenotype
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome | Anoctamin-5-related myopathy pseudometabolic phenotype |
| fr | Syndrome d'hyperCKémie asymptomatique-myalgie-rhabdomyolyse | Phénotype pseudo-métabolique de la myopathie liée à l'anoctamin-5 |
| de | Asymptomatische HyperCKämie-Myalgie-Rhabdomyolyse-Syndrom | Anoctamin-5 assoziierte Myopathie bei pseudo-metabolischem Phänotyp |
| es | Síndrome de hiperCKemia-mialgia-rabdomiólisis asintomático | Fenotipo pseudometabólico de miopatía asociada a anoctamina-5 |
| it | Sindrome asintomatica iperCKemia-mialgia-rabdomiolisi | Fenotipo pseudometabolico della miopatia correlata all'anoctamina-5 |
| nl | Asymptomatische hyperCKemie - myalgie - rhabdomyolyse-syndroom | Anoctamine-5-gerelateerde myopathie pseudometabool fenotype |
| pt | Síndrome de hiperCKémia-mialgia-rabdomiólise assintomática | Fenótipo pseudometabólico miopático anoctamina-5-relacionado |
| pl | Zespół bezobjawowej hiper-CK-emii, mialgii i rabdomiolizy | = en |
| cs | Syndrom zahrnující asymptomatickou hyperCKemii, myalgii, rabdomyolýzu | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.8 | NTBT | attributed | not yet validated |
| MONDO | 975918 | 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:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANO5 | Disease-causing germline mutation(s) in | Assessed | HGNC:27337 | ENSG00000171714 | 608662 | 11p14.3 | anoctamin 5 | 28187523[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/689021
- This record as JSON: /data/d/689021.json