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Autosomal dominant centronuclear myopathy
2 OMIM references -
4 associated genes
70 connected diseases
No signs/symptoms info
Disease Type of connection
Malignant hyperthermia
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Benign Samaritan congenital myopathy
Central core disease
Congenital multicore myopathy with external ophthalmoplegia
Fetal akinesia-cerebral and retinal hemorrhage syndrome
King-Denborough syndrome
Moderate multiminicore disease with hand involvement
Catecholaminergic polymorphic ventricular tachycardia
Precursor T-cell acute lymphoblastic leukemia
Familial isolated dilated cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Precursor B-cell acute lymphoblastic leukemia
Autosomal recessive centronuclear myopathy
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
Retinitis pigmentosa
Pyogenic arthritis - pyoderma gangrenosum - acne
Joubert syndrome with ocular defect
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Acute promyelocytic leukemia
Autosomal agammaglobulinemia
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive nonsyndromic intellectual deficit
Burkitt lymphoma
Chronic myeloid leukemia
Congenital atransferrinemia
Early-onset myopathy with fatal cardiomyopathy
Extraskeletal myxoid chondrosarcoma
Fibronectin glomerulopathy
Giant cell glioblastoma
Gliosarcoma
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Hereditary proximal myopathy with early respiratory failure
Huntington disease
Isolated brachycephaly
Isolated plagiocephaly
Juvenile Huntington disease
Juvenile rheumatoid factor-negative polyarthritis
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Oligoarticular juvenile arthritis
Tibial muscular dystrophy
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
Hypokalemic periodic paralysis
Thyrotoxic periodic paralysis
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Amyotrophic lateral sclerosis
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Familial capillary hemangioma
Synonym(s):
- AD-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: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
DNM2 P50570602378
MTMR14 Q8NCE2611089
MYF6 P23409159991
RYR1 P21817180901
No signs/symptoms info available.