Cap myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: Cap disease
Number of Symptoms 22
OrphanetNr: 171881
OMIM Id: 609284
609285
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital myopathy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of tropomyosin
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000275) Narrow face 76 / 7739
2
 (HPO:0000276) Long face 109 / 7739
3
 (HPO:0000467) Neck muscle weakness 29 / 7739
4
 (HPO:0000218) High palate 356 / 7739
5
 (HPO:0001349) Facial diplegia 16 / 7739
6
 (HPO:0001270) Motor delay 322 / 7739
7
 (HPO:0002015) Dysphagia 301 / 7739
8
 (HPO:0001371) Flexion contracture 220 / 7739
9
 (HPO:0002650) Scoliosis 705 / 7739
10
 (HPO:0000767) Pectus excavatum 244 / 7739
11
 (HPO:0001761) Pes cavus 225 / 7739
12
 (HPO:0002093) Respiratory insufficiency 410 / 7739
13
 (HPO:0003324) Generalized muscle weakness 48 / 7739
14
 (HPO:0003798) Nemaline bodies 12 / 7739
15
 (HPO:0003724) Shoulder girdle muscle atrophy 14 / 7739
16
 (HPO:0003701) Proximal muscle weakness 105 / 7739
17
 (HPO:0008944) Distal lower limb amyotrophy 12 / 7739
18
 (HPO:0009053) Distal lower limb muscle weakness 13 / 7739
19
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
20
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
 (HPO:0003621) Juvenile onset 105 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: