Cap myopathy
Synonyms: Cap disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cap myopathy | Cap disease |
| fr | Myopathie à casquette | Myopathie à cap |
| de | Cap-Myopathie | |
| es | Miopatía con capuchón | Enfemedad con capuchón |
| it | Miopatia a cappello | |
| nl | Cap-myopathie | Cap-ziekte |
| pt | Miopatia de Cap | |
| pl | Miopatia czapeczek | Choroba czapeczek |
| cs | Cap myopatie | Cap disease · Cap onemocnění |
| uk | Ковпачкова міопатія | Хвороба шапочки |
| zh | 帽状肌病 | 帽状病 |
| tr | Kap miyopatisi | Cap hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609284 | NTBT | validated | |
| OMIM | 609285 | NTBT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.0Y | NTBT | index | validated |
| MONDO | 0015753 | E | validated | |
| MeSH | C579969 | E | validated | |
| UMLS | C3710589 | E | validated | |
| GARD | 11915 | 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:97245Congenital myopathy
rare genetic diseases; rare neurological diseases - ORPHA:284790Qualitative or quantitative defects of tropomyosin
rare genetic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYPN | Disease-causing germline mutation(s) in | Assessed | HGNC:23246 | ENSG00000138347 | 608517 | 10q21.3 | myopalladin | 28220527[PMID] |
| TPM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12011 | ENSG00000198467 | 190990 | 9p13.3 | tropomyosin 2 | 20301465[PMID]_17846275[PMID] |
| TPM3 | Disease-causing germline mutation(s) in | Assessed | HGNC:12012 | ENSG00000143549 | 191030 | 1q21.3 | tropomyosin 3 | 20554445[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 25079567[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25079567[PMID] |
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
30 annotations · validated 2018-07-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0004303 | Abnormal muscle fiber morphology | |
| HP:0000218 | High palate | |
| HP:0000276 | Long face | |
| HP:0001270 | Motor delay | |
| HP:0001315 | Reduced tendon reflexes | |
| Occasional (29-5%) | ||
| HP:0002616 | Aortic root aneurysm | |
| HP:0007110 | Central hypoventilation | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0009046 | Difficulty running | |
| HP:0003388 | Easy fatigability | |
| HP:0010628 | Facial palsy | |
| HP:0030200 | Fatiguable weakness of proximal limb muscles | |
| HP:0002359 | Frequent falls | |
| HP:0003700 | Generalized amyotrophy | |
| HP:0001290 | Generalized hypotonia | |
| HP:0003391 | Gowers sign | |
| HP:0001611 | Hypernasal speech | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0007210 | Lower limb amyotrophy | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0008081 | Pes valgus | |
| HP:0002421 | Poor head control | |
| HP:0006673 | Reduced systolic function | |
| HP:0011703 | Sinus tachycardia | |
| HP:0002943 | Thoracic scoliosis | |
| HP:0030051 | Tip-toe gait | |
Annotation source: 19345583[PMID]_19553118[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171881
- This record as JSON: /data/d/171881.json