Details of Disease

General Information of Disease (ID: DISLAPXW)

• Disease Name: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
• Synonyms: leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; cerebellar hypoplasia with endosteal sclerosis; endosteal sclerosis-cerebellar hypoplasia syndrome; leukodystrophy caused by mutation in POLR3B; POLR3B leukodystrophy; HLD8
• Definition: Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'musculoskeletal system disorder' (MONDO:0002081) ontology branch (https://orcid.org/0000-0001-9310-0163)
• Disease Hierarchy:
  DISRGY2N: Endocrine disease
  DIS6SVEE: Syndromic disease
  DISVY1TT: Leukodystrophy
  DIS7W23Z: Reproductive system disorder
  DISOV08L: Central nervous system malformation
  DISLAPXW: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
• Disease Identifiers:
  MONDO ID: MONDO_0013722
  MESH ID: C535353
  UMLS CUI: C3280644
  OMIM ID: 614381
  MedGen ID: 482274
  Orphanet ID: 85186

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
POLR3B	OT3FS9MB	Definitive	Autosomal recessive	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.