Isolated asymptomatic elevation of creatine phosphokinase
Synonyms: Idiopathic asymptomatic hyperCKemia · Isolated asymptomatic hyperCKemia
- Type
- Biological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated asymptomatic elevation of creatine phosphokinase | Idiopathic asymptomatic hyperCKemia · Isolated asymptomatic hyperCKemia |
| fr | Elévation isolée asymptomatique de la créatine phosphokinase | Elévation isolée de la CPK · HyperCKémie isolée asymptomatique |
| de | Erhöhung der Kreatinphosphokinase, isolierte asymptomatische Form | HyperCKämie, asymptomatische, idiopathische · HyperCKämie, asymptomatische, isolierte |
| es | Elevación aislada asintomática de creatinfosfoquinasa | HiperCKemia asintomática aislada · HiperCKemia asintomática idiopática |
| it | Aumento isolato asintomatico della creatin-fosfochinasi | |
| nl | Geïsoleerde asymptomatische verhoging van creatinefosfokinase | Geïsoleerde asymptomatische hyperCKemie · Idiopathische asymptomatische hyperCKemie |
| pt | Elevação isolada e assintomática de creatina fosfoquinase | |
| pl | Izolowany bezobjawowy podwyższony poziom fosfokinazy kreatyny | = en |
| cs | Izolovaná asymptomatická elevace kreatinfosfokinázy | = en |
| uk | Ізольоване безсимптомне підвищення рівня креатинфосфокінази | Ідіопатична безсимптомна гіперКФК · Ізольована безсимптомна гіперКФК |
| zh | 孤立性无症状肌酸磷酸激酶升高 | 特发性无症状高CK血症 |
| tr | İzole asemptomatik kreatin fosfokinaz yükselmesi | İzole asemptomatik hiperkemi · İdiyopatik asemptomatik hiperkemi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123320 | E | validated | |
| ICD-10 | R74.8 | NTBT | attributed | not yet validated |
| MONDO | 0016103 | E | validated | |
| UMLS | C4751434 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:207078Qualitative or quantitative defects of caveolin-3
rare genetic diseases - ORPHA:207085Qualitative or quantitative defects of dystrophin
rare genetic diseases
No children.
Genes
3 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 | 31517061[PMID]_22402862[PMID] |
| CAV3 | Disease-causing germline mutation(s) in | Assessed | HGNC:1529 | ENSG00000182533 | 601253 | 3p25.3 | caveolin 3 | 10746614[PMID] |
| DAG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2666 | ENSG00000173402 | 128239 | 3p21.31 | dystroglycan 1 | 38177406[PMID] |
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.
HPO phenotypes
3 annotations · validated 2021-12-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | Diagnostic criterion |
| Excluded (0%) | ||
| HP:0008331 | Elevated creatine kinase after exercise | |
| HP:0003198 | Myopathy | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 26000160[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206599
- This record as JSON: /data/d/206599.json