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Typical nemaline myopathy
5 associated genes
130 connected diseases
No signs/symptoms info
Disease Type of connection
Childhood-onset nemaline myopathy
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Congenital fiber-type disproportion myopathy
Cap myopathy
Congenital myopathy with excess of thin filaments
Digitotalar dysmorphism
Sheldon-Hall syndrome
Trismus - pseudocamptodactyly
Familial isolated dilated cardiomyopathy
Young adult-onset Parkinsonism
Baraitser-Winter syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Amyotrophic lateral sclerosis
Precursor B-cell acute lymphoblastic leukemia
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Precursor T-cell acute lymphoblastic leukemia
Inflammatory myofibroblastic tumor
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
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Left ventricular noncompaction
Noonan syndrome
Familial isolated restrictive cardiomyopathy
Developmental malformations - deafness - dystonia
Cowden syndrome
Proteus syndrome
Juvenile myelomonocytic leukemia
Common variable immunodeficiency
Giant cell glioblastoma
Gliosarcoma
Angelman syndrome
Familial pancreatic carcinoma
Familial amyloidosis, Finnish type
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Becker muscular dystrophy
Duchenne muscular dystrophy
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Hereditary gingival fibromatosis
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Desminopathy
Scapuloperoneal amyotrophy
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Griscelli disease type 3
Pulverulent cataract
Williams syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2B
Congenital intrauterine infection-like syndrome
Congenital myopathy, Paradas type
Distal myopathy with anterior tibial onset
Miyoshi myopathy
APC-related attenuated familial adenomatous polyposis
Anaplastic ependymoma
Atypical teratoid tumor
Coffin-Siris syndrome
Cornelia de Lange syndrome
Craniometaphyseal dysplasia
Desmoid tumor
Distal myopathy with posterior leg and anterior hand involvement
Estrogen resistance syndrome
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial melanoma
Familial multiple meningioma
Familial rhabdoid tumor
Gardner syndrome
Giant cell arteritis
Glycogen storage disease due to muscle beta-enolase deficiency
Granulomatosis with polyangiitis
Hypoplastic left heart syndrome
Juvenile rheumatoid factor-negative polyarthritis
LEOPARD syndrome
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Metachondromatosis
Mosaic variegated aneuploidy syndrome
Muscle filaminopathy
Neurofibromatosis type 3
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Oculodentodigital dysplasia
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
Romano-Ward syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Syndactyly type 3
Turcot syndrome with polyposis
Wilson-Turner syndrome
Charcot-Marie-Tooth disease type 4H
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
2q37 microdeletion syndrome
Catecholaminergic polymorphic ventricular tachycardia
Parkinsonian-pyramidal syndrome
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Congenital mesoblastic nephroma
Fibrosarcoma
Isolated focal cortical dysplasia type IIb
Lymphangioleiomyomatosis
Tuberous sclerosis
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Congenital dyserythropoietic anemia type III
Essential thrombocythemia
Familial thoracic aortic aneurysm and aortic dissection
Fetal and neonatal alloimmune thrombocytopenia
Hereditary spherocytosis
Herpetic encephalitis
Li-Fraumeni syndrome
Papilloma of choroid plexus
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Pseudohyperaldosteronism type 2
Renal pseudohypoaldosteronism type 1
Spectrin-associated autosomal recessive cerebellar ataxia
Spinocerebellar ataxia type 5
Usher syndrome type 1
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Distal 22q11.2 microdeletion syndrome
Extraskeletal myxoid chondrosarcoma
Translocation renal cell carcinoma
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.