Details of Disease

General Information of Disease (ID: DISLYB1F)

• Disease Name: Pelizaeus-Merzbacher-like disease
• Synonyms: PMLD
• Definition: Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD).
• Disease Hierarchy:
  DISVY1TT: Leukodystrophy
  DISLYB1F: Pelizaeus-Merzbacher-like disease
• Disease Identifiers:
  MONDO ID: MONDO_0017226
  UMLS CUI: C4274084
  MedGen ID: 894734
  Orphanet ID: 280270
  SNOMED CT ID: 717042001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJC2	TTPOCAL	Limited	Genetic Variation	[1]
PDXP	TT9UYG4	Disputed	Genetic Variation	[2]
PRDX5	TTLPJWH	Disputed	Genetic Variation	[2]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC16A2	DTQ8MP1	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SOX10	OTF25ULQ	Disputed	Altered Expression	[4]

References

• [1] Diseases of connexins expressed in myelinating glia.Neurosci Lett. 2019 Mar 16;695:91-99. doi: 10.1016/j.neulet.2017.05.037. Epub 2017 May 23.
• [2] Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.Neuropediatrics. 2003 Jun;34(3):127-36. doi: 10.1055/s-2003-41276.
• [3] Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.Ann Neurol. 2009 Jan;65(1):114-8. doi: 10.1002/ana.21579.
• [4] Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8.