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X-linked Emery-Dreifuss muscular dystrophy
2 OMIM references -
2 associated genes
116 connected diseases
No signs/symptoms info
Disease Type of connection
Reducing body myopathy
X-linked myopathy with postural muscle atrophy
Familial isolated dilated cardiomyopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Estrogen resistance syndrome
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Young adult-onset Parkinsonism
Nestor-Guillermo progeria syndrome
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Digitotalar dysmorphism
Lethal congenital contracture syndrome type 3
Adams-Oliver syndrome
Adult-onset autosomal dominant leukodystrophy
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Familial visceral myopathy
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Autosomal recessive ataxia, Beauce type
Autosomal recessive myogenic arthrogryposis multiplex congenita
Familial atrial fibrillation
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Leber congenital amaurosis
Male infertility with normal virilization due to meiosis defect
Nuclear cataract
Senior-Loken syndrome
Aneurysm - osteoarthritis syndrome
Familial Alzheimer-like prion disease
Familial advanced sleep-phase syndrome
Familial pancreatic carcinoma
Familial thoracic aortic aneurysm and aortic dissection
Fatal familial insomnia
Generalized juvenile polyposis / juvenile polyposis coli
Gerstmann-Straussler-Scheinker syndrome
Hereditary hemorrhagic telangiectasia
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Myhre syndrome
17p13.3 microduplication syndrome
17q11 microdeletion syndrome
Acute fatty liver of pregnancy
Adult hepatocellular carcinoma
Alveolar rhabdomyosarcoma
Ataxia - hypogonadism - choroidal dystrophy
Atypical teratoid tumor
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal dominant secondary polycythemia
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive spastic paraplegia type 39
Behçet disease
Brugada syndrome
CLN3 disease
Cerebellar ataxia - hypogonadism
Coffin-Siris syndrome
Combined immunodeficiency due to STK4 deficiency
Congenital fibrosis of extraocular muscles
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Delta-beta-thalassemia
Distal 17p13.3 microdeletion syndrome
Early-onset myopathy with fatal cardiomyopathy
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial lipoprotein lipase deficiency
Familial multiple meningioma
Familial primary hypomagnesemia with normocalcuria and normocalcemia
Familial rhabdoid tumor
Fanconi anemia
Glycogen storage disease due to liver phosphorylase kinase deficiency
Hemoglobin Lepore - beta-thalassemia
Hereditary proximal myopathy with early respiratory failure
Hyperlipoproteinemia type 5
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Juvenile rheumatoid factor-negative polyarthritis
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Miller-Dieker syndrome
Mitochondrial trifunctional protein deficiency
Multiple paragangliomas associated with polycythemia
Neurofibromatosis type 3
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
Peripheral resistance to thyroid hormones
Pseudohypoaldosteronism type 2E
Retinitis pigmentosa
Severe combined immunodeficiency due to DNA-PKcs deficiency
Spinocerebellar ataxia type 19 / 22
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Tibial muscular dystrophy
Xeroderma pigmentosum complementation group E
Giant cell glioblastoma
Gliosarcoma
Synonym(s):
- EDMD1
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: x-linked recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
EMD P50402300384
FHL1 Q13642300163
No signs/symptoms info available.