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Autosomal dominant Emery-Dreifuss muscular dystrophy
4 OMIM references -
4 associated genes
160 connected diseases
No signs/symptoms info
Disease Type of connection
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Left ventricular noncompaction
Hutchinson-Gilford progeria syndrome
Lethal restrictive dermopathy
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive ataxia, Beauce type
Autosomal recessive myogenic arthrogryposis multiplex congenita
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
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Familial isolated dilated cardiomyopathy
X-linked Emery-Dreifuss muscular dystrophy
Precursor T-cell acute lymphoblastic leukemia
Acute promyelocytic leukemia
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Burkitt lymphoma
Atrial septal defect, ostium secundum type
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Desmoid tumor
Estrogen resistance syndrome
Young adult-onset Parkinsonism
Distal 22q11.2 microdeletion syndrome
Hereditary breast and ovarian cancer syndrome
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Adult-onset autosomal dominant leukodystrophy
Postsynaptic congenital myasthenic syndromes
Familial gastric cancer
Gastric linitis plastica
Early-onset generalized limb-onset dystonia
Myoclonus-dystonia syndrome
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1
Nuclear cataract
Adult hepatocellular carcinoma
Berardinelli-Seip congenital lipodystrophy
Congenital non-bullous ichthyosiform erythroderma
Familial primary hypomagnesemia with normocalcuria and normocalcemia
Lamellar ichthyosis
Self-healing collodion baby
17q11 microdeletion syndrome
3C syndrome
APC-related attenuated familial adenomatous polyposis
Adult-onset distal myopathy due to VCP mutation
Autosomal dominant nonsyndromic intellectual deficit
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy, classic type
Autosomal dominant spastic paraplegia type 8
Autosomal recessive limb-girdle muscular dystrophy type 2T
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive primary microcephaly
Behavioral variant of frontotemporal dementia
Combined immunodeficiency due to STK4 deficiency
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Craniometaphyseal dysplasia
Craniopharyngioma
Dedifferentiated liposarcoma
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial hemophagocytic lymphohistiocytosis
Fibronectin glomerulopathy
Gardner syndrome
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Hepatocellular carcinoma, childhood-onset
Hermansky-Pudlak syndrome type 7
Hypoplastic left heart syndrome
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Muscle-eye-brain disease
Nestor-Guillermo progeria syndrome
Oculodentodigital dysplasia
Pilomatrixoma
Progressive non-fluent aphasia
Semantic dementia
Severe combined immunodeficiency due to DNA-PKcs deficiency
Spastic paraplegia - Paget disease of bone
Squamous cell carcinoma of head and neck
Syndactyly type 3
Turcot syndrome with polyposis
Weaver syndrome
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
Fanconi anemia
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Translocation renal cell carcinoma
Catecholaminergic polymorphic ventricular tachycardia
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
12q14 microdeletion syndrome
46,XY partial gonadal dysgenesis
Acute necrotizing encephalopathy of childhood
Ataxia-telangiectasia-like disorder
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal thrombocytopenia with normal platelets
Buschke-Ollendorff syndrome
Constitutional mismatch repair deficiency syndrome
Extraskeletal Ewing sarcoma
Familial acute necrotizing encephalopathy
Familial atrial fibrillation
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Frontotemporal dementia with motor neuron disease
Greenberg dysplasia
Hereditary nonpolyposis colon cancer
Inflammatory myofibroblastic tumor
Isolated NADH-CoQ reductase deficiency
Isolated osteopoikilosis
Juvenile amyotrophic lateral sclerosis
Mandibuloacral dysplasia with type B lipodystrophy
Melorheostosis with osteopoikilosis
Methylmalonic acidemia with homocystinuria, type cblX
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Neuroblastoma
Non-polyposis Turcot syndrome
Papillary or follicular thyroid carcinoma
Partial acquired lipodystrophy
Reducing body myopathy
Renal tubular dysgenesis of genetic origin
Reynolds syndrome
Sjögren-Larsson syndrome
TARP syndrome
Williams syndrome
Wolfram syndrome
X-linked myopathy with postural muscle atrophy
X-linked non-syndromic intellectual deficit
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Primary peritoneal carcinoma
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
LMNA P02545150330
SYNE1 Q8NF91608441
SYNE2 Q8WXH0608442
TMEM43 Q9BTV4612048
No signs/symptoms info available.