ORPHA:597
Central core disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Central core disease | |
| fr | Myopathie congénitale à "central cores" | Myopathie congénitale à cores centraux |
| de | Central-Core-Myopathie | Central-Core-Krankheit · Zentralfibrillenmyopathie |
| es | Enfermedad central core | Miopatía congénita central core |
| it | Miopatia congenita central core | |
| nl | Central core-ziekte | |
| pt | Doença do núcleo central | |
| pl | Choroba central core | |
| cs | Centronukleární onemocnění | |
| uk | Захворювання центрального ядра | |
| zh | 中央轴空病 | |
| tr | Santral kor hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 117000 | E | validated | |
| ICD-10 | G71.2 | NTBT | inclusion | validated |
| ICD-11 | 8C72.02 | E | specific | validated |
| MONDO | 0007294 | E | validated | |
| MONDO | 7294 | E | validated | |
| MeSH | D020512 | E | validated | |
| UMLS | C0751951 | E | validated | |
| GARD | 6014 | E | validated | |
| MedDRA | 10057620 | 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 (2):
- ORPHA:172976Congenital myopathy with cores
rare genetic diseases; rare neurological diseases - ORPHA:98742Neurological muscular channelopathy due to a genetic ryanodine receptor defect
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RYR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10483 | ENSG00000196218 | 180901 | 19q13.2 | ryanodine receptor 1 | 20301565[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.4 / 100 000 | United Kingdom | Value and class | Validated | 19767415[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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.
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HPO phenotypes
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030230 | Central core regions in muscle fibers | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0003388 | Easy fatigability | |
| HP:0001252 | Hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0002047 | Malignant hyperthermia | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001270 | Motor delay | |
| HP:0002828 | Multiple joint contractures | |
| HP:0003552 | Muscle stiffness | |
| HP:0003198 | Myopathy | |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0001763 | Pes planus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| Occasional (29-5%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0002483 | Bulbar signs | |
| HP:0003798 | Nemaline bodies | |
| HP:0000602 | Ophthalmoplegia | |
| Very rare (<4-1%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001989 | Fetal akinesia sequence | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| Excluded (0%) | ||
| HP:0040191 | Rectus femoris muscle atrophy | |
Annotation source: 17504518[PMID]_30155738[PMID]_16621918[PMID]_4265427[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/597
- This record as JSON: /data/d/597.json