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Desminopathy
1 OMIM reference -
1 associated gene
32 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated dilated cardiomyopathy
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Scapuloperoneal amyotrophy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
X-linked centronuclear myopathy
Constitutional mismatch repair deficiency syndrome
Hereditary nonpolyposis colon cancer
Idiopathic pulmonary fibrosis
Keratosis palmoplantaris striata
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Childhood-onset nemaline myopathy
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Zonular cataract
Mitochondrial trifunctional protein deficiency
Naxos disease
Synonym(s):
- Desmin-related myofibrillar myopathy
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DES P17661125660
No signs/symptoms info available.