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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
21 signs/symptoms
Laminopathy type Decaudain-Vigouroux
Adult-onset autosomal dominant leukodystrophy

LMNA LMNB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.84)
LMNB1



Citations in the biomedical literature:


Laminopathy type Decaudain-Vigouroux
LMNA
Adult-onset autosomal dominant leukodystrophy
LMNB1



Laminopathy type Decaudain-Vigouroux
Adult-onset autosomal dominant leukodystrophy

Synonym(s):
- Laminopathy with severe metabolic syndrome and myopathy

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Adult-onset autosomal dominant leukodystrophy

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


Laminopathy type Decaudain-Vigouroux

(no data available)