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Adult-onset autosomal dominant leukodystrophy
1 OMIM reference -
1 associated gene
54 connected diseases
21 signs/symptoms
Disease Type of connection
Young adult-onset Parkinsonism
Amyotrophic lateral sclerosis
Familial isolated dilated cardiomyopathy
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
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 isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
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
X-linked Emery-Dreifuss muscular dystrophy
Autoimmune polyendocrinopathy type 1
Autosomal recessive spastic paraplegia type 20
Pulverulent cataract
Adult hepatocellular carcinoma
Alpha-1-antichymotrypsin deficiency
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Craniometaphyseal dysplasia
Dedifferentiated liposarcoma
Estrogen resistance syndrome
Familial primary hypomagnesemia with normocalcuria and normocalcemia
Fibronectin glomerulopathy
Hypoplastic left heart syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Isolated adermatoglyphia
Oculodentodigital dysplasia
Sitosterolemia
Syndactyly type 3
Well-differentiated liposarcoma
Wolf-Hirschhorn syndrome
Greenberg dysplasia
Reynolds syndrome
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Coffin-Siris syndrome
Familial rhabdoid tumor
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked non-syndromic intellectual deficit
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LMNB1 P20700150340
Very frequent
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal dominant inheritance
- Motor deficit / trouble
- Total / partial trisomy / duplication

Frequent
- Abnormal gait
- Constipation
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Hypertonia / spasticity / rigidity / stiffness
- Hypotension
- Impotence / painful erection / priapism / erection troubles
- Nystagmus
- Sphincter dysfunction
- Tremor

Occasional
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Elocution disorders / dysarthria / dysphonia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hearing loss / hypoacusia / deafness
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Visual loss / blindness / amblyopia