Autosomal dominant leukodystrophy with autonomic disease

Description: Autosomal dominant leukodystrophy with autonomic disease (ADLD) is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by abnormalities of the nervous system's white matter, which consists of nerve fibers covered by a fatty substance called ...1

... More on Autosomal dominant leukodystrophy with autonomic disease »

Symptoms of Autosomal dominant leukodystrophy with autonomic disease

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

... More Symptoms of Autosomal dominant leukodystrophy with autonomic disease »

Genetics of Autosomal dominant leukodystrophy with autonomic disease

Genetic Changes: ADLD is caused by mutations in the LMNB1 gene. This gene provides instructions for making the lamin B1 protein. Lamin B1 is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the ...2

... More on Genetics of Autosomal dominant leukodystrophy with autonomic disease »

Causes

See also causal information:

Similar Topic Articles

Names and Terminology

Other Names for This Condition

  • ADLD
  • adult-onset autosomal dominant leukodystrophy with autonomic symptoms
  • autosomal dominant adult-onset demyelinating leukodystrophy
  • LMNB1-related adult-onset autosomal ...
... More General Information on Autosomal dominant leukodystrophy with autonomic disease »

   •   •   •

References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ autosomal-dominant-leukodystrophy-with-autonomic-disease
  2. ibid.

   •   •   •

Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.