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Autosomal recessive centronuclear myopathy
1 OMIM reference -
2 associated genes
107 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated dilated cardiomyopathy
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
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Precursor T-cell acute lymphoblastic leukemia
Amyotrophic lateral sclerosis
Burkitt lymphoma
Childhood-onset nemaline myopathy
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Autosomal dominant centronuclear myopathy
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
Fructose-1,6-bisphosphatase deficiency
Hereditary spherocytosis
Digitotalar dysmorphism
Left ventricular noncompaction
Lethal congenital contracture syndrome type 3
X-linked epilepsy - learning disabilities - behavior disorders
Congenital analbuminemia
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
Hereditary gingival fibromatosis
Noonan syndrome
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Atypical juvenile parkinsonism
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
X-linked centronuclear myopathy
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Spinocerebellar ataxia type 2
Zonular cataract
3-phosphoglycerate dehydrogenase deficiency
Acrodysostosis
Acrodysostosis with multiple hormone resistance
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
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 nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome
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
Inflammatory myofibroblastic tumor
Junctional epidermolysis bullosa - pyloric atresia
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
Pseudohypoaldosteronism type 2E
Reducing body myopathy
Terminal osseous dysplasia - pigmentary defects
Translocation renal cell carcinoma
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Chronic myeloid leukemia
Familial thoracic aortic aneurysm and aortic dissection
Moyamoya disease
Precursor B-cell acute lymphoblastic leukemia
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Fetal akinesia-cerebral and retinal hemorrhage syndrome
MACS syndrome
Synonym(s):
- AR-CNM
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
BIN1 O00499601248
TTN Q8WZ42188840
No signs/symptoms info available.