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Congenital myopathy with excess of thin filaments
1 OMIM reference -
1 associated gene
99 connected diseases
No signs/symptoms info
Disease Type of connection
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Intermediate nemaline myopathy
Typical nemaline myopathy
Severe congenital nemaline myopathy
Familial isolated dilated cardiomyopathy
Young adult-onset Parkinsonism
Precursor B-cell acute lymphoblastic leukemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Cap myopathy
Precursor T-cell acute lymphoblastic leukemia
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
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Baraitser-Winter syndrome
Griscelli disease type 3
Pulverulent cataract
Congenital intrauterine infection-like syndrome
Inflammatory myofibroblastic tumor
Anaplastic ependymoma
Atypical teratoid tumor
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Coffin-Siris syndrome
Cornelia de Lange syndrome
Cowden syndrome
Craniometaphyseal dysplasia
Early-onset myopathy with fatal cardiomyopathy
Estrogen resistance syndrome
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial melanoma
Familial multiple meningioma
Familial rhabdoid tumor
Giant cell arteritis
Granulomatosis with polyangiitis
Hereditary proximal myopathy with early respiratory failure
Hypoplastic left heart syndrome
Juvenile myelomonocytic leukemia
Juvenile rheumatoid factor-negative polyarthritis
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mosaic variegated aneuploidy syndrome
Neurofibromatosis type 3
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Oculodentodigital dysplasia
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
Proteus syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Syndactyly type 3
Tibial muscular dystrophy
Wilson-Turner syndrome
Amyotrophic lateral sclerosis
Charcot-Marie-Tooth disease type 4H
2q37 microdeletion syndrome
Digitotalar dysmorphism
Parkinsonian-pyramidal syndrome
Sheldon-Hall syndrome
Trismus - pseudocamptodactyly
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Common variable immunodeficiency
Congenital mesoblastic nephroma
Fibrosarcoma
Isolated focal cortical dysplasia type IIb
Left ventricular noncompaction
Lymphangioleiomyomatosis
Tuberous sclerosis
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Congenital dyserythropoietic anemia type III
Essential thrombocythemia
Familial isolated restrictive cardiomyopathy
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
Synonym(s):
- Actin myopathy
Classification (Orphanet):
- 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
ACTA1 P68133102610
No signs/symptoms info available.