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Cap myopathy
2 OMIM references -
2 associated genes
50 connected diseases
No signs/symptoms info
Disease Type of connection
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Intermediate nemaline myopathy
Typical nemaline myopathy
Inflammatory myofibroblastic tumor
Digitotalar dysmorphism
Sheldon-Hall syndrome
Trismus - pseudocamptodactyly
Young adult-onset Parkinsonism
Familial isolated dilated cardiomyopathy
Left ventricular noncompaction
Cornelia de Lange syndrome
Congenital myopathy with excess of thin filaments
Severe congenital nemaline myopathy
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Amyotrophic lateral sclerosis
Cowden syndrome
Fibronectin glomerulopathy
Proteus syndrome
Wilson-Turner syndrome
Congenital bilateral absence of vas deferens
Cystic fibrosis
Dedifferentiated liposarcoma
Distal myopathy with posterior leg and anterior hand involvement
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary chronic pancreatitis
Hereditary site-specific ovarian cancer syndrome
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Muscle filaminopathy
Primary peritoneal carcinoma
Pseudohypoaldosteronism type 2E
Retinitis pigmentosa
Well-differentiated liposarcoma
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Distal hereditary motor neuropathy type 2
Encephalopathy due to hydroxykynureninuria
Extraskeletal myxoid chondrosarcoma
Neuralgic amyotrophy
Precursor T-cell acute lymphoblastic leukemia
Translocation renal cell carcinoma
Synonym(s):
- Cap disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
TPM2 P07951190990
TPM3 P06753191030
No signs/symptoms info available.