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Hereditary proximal myopathy with early respiratory failure
1 OMIM reference -
1 associated gene
72 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated dilated cardiomyopathy
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Tibial muscular dystrophy
Childhood-onset nemaline myopathy
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Amyotrophic lateral sclerosis
Autosomal dominant macrothrombocytopenia
Autosomal recessive limb-girdle muscular dystrophy type 2G
Autosomal recessive limb girdle muscular dystrophy type 2A
Catecholaminergic polymorphic ventricular tachycardia
3M syndrome
8p11.2 deletion syndrome
Hereditary spherocytosis
Digitotalar dysmorphism
Left ventricular noncompaction
Lethal congenital contracture syndrome type 3
Congenital analbuminemia
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Zonular cataract
3-phosphoglycerate dehydrogenase deficiency
Autosomal dominant centronuclear myopathy
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2C
B-cell chronic lymphocytic leukemia
Benign Samaritan congenital myopathy
Burkitt lymphoma
Cabezas syndrome
Central core disease
Chronic intestinal pseudoobstruction
Congenital fiber-type disproportion myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with excess of thin filaments
Congenital myopathy, Paradas type
Congenital short bowel syndrome
Congenital valvular dysplasia
Distal myopathy with anterior tibial onset
Ehlers-Danlos syndrome with periventricular heterotopia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial isolated restrictive cardiomyopathy
Fibronectin glomerulopathy
Frontometaphyseal dysplasia
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
King-Denborough syndrome
Malignant hyperthermia
Miyoshi myopathy
Moderate multiminicore disease with hand involvement
Mosaic variegated aneuploidy syndrome
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Reducing body myopathy
Terminal osseous dysplasia - pigmentary defects
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
Familial thoracic aortic aneurysm and aortic dissection
Moyamoya disease
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Synonym(s):
- ADMERF
- Edström Myopathy
- HIBM-ERF
- Hereditary inclusion body myopathy with early respiratory failure
- Myofibrillar myopathy with early respiratory failure
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: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TTN Q8WZ42188840
No signs/symptoms info available.