Details of Disease

General Information of Disease (ID: DIS5QR9B)

• Disease Name: Adult-onset autosomal dominant demyelinating leukodystrophy
• Synonyms: leukodystrophy, demyelinating, ADULT-onset, autosomal dominant; Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type; multiple sclerosis-like disorder; Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly; autosomal dominant adult-onset demyelinating leukodystrophy; autosomal dominant leukodystrophy with autonomic disease; adult-onset autosomal dominant demyelinating leukodystrophy; ADLD; adult-onset autosomal dominant leukodystrophy; leukodystrophy, adult-onset, autosomal dominant; autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease
• Definition: Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.
• Disease Hierarchy:
  DISVY1TT: Leukodystrophy
  DISFPEQA: Laminopathy
  DISFHG81: Partial trisomy of the long arm of chromosome 5
  DIS5QR9B: Adult-onset autosomal dominant demyelinating leukodystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0008215
  MESH ID: C566813
  UMLS CUI: C1868512
  OMIM ID: 169500
  MedGen ID: 356995
  Orphanet ID: 99027

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LMNB1	OT100T3P	Supportive	Autosomal dominant	[1]

References

• [1] Leukodystrophy Overview C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.