Details of Disease | DrugMAP

General Information of Disease (ID: DISINIV9)

Disease Name	Hypomyelinating leukodystrophy 2
Synonyms	leukodystrophy, hypomyelinating, 2; Pelizaeus-Merzbacher-like disease, 1; GJC2 leukodystrophy; hypomyelinating leukodystrophy type 2; Pelizaeus-Merzbacher-like disease due to GJC2 mutation; PMLD1; leukodystrophy caused by mutation in GJC2; Pelizaeus-Merzbacher-like disease 1; HLD2; leukodystrophy, hypomyelinating, type 2
Definition	Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.
Disease Hierarchy	DISVY1TT: Leukodystrophy DISLYB1F: Pelizaeus-Merzbacher-like disease DISINIV9: Hypomyelinating leukodystrophy 2
Disease Identifiers	MONDO ID MONDO_0012125 MESH ID C563855 UMLS CUI C1837355 OMIM ID 608804 MedGen ID 325157 Orphanet ID 280282 SNOMED CT ID 870287007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJC2	TTPOCAL	Definitive	Autosomal recessive	[1]
GJC2	TTPOCAL	Definitive	Genetic Variation	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLP1	OT8CM9CX	Strong	Genetic Variation	[2]
GJC2	OTLF9WW4	Definitive	Autosomal recessive	[1]
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References

1	GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology. 2008 Mar 4;70(10):748-54. doi: 10.1212/01.wnl.0000284828.84464.35. Epub 2007 Dec 19.
2	Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.Mol Biol Rep. 2019 Aug;46(4):4507-4516. doi: 10.1007/s11033-019-04906-4. Epub 2019 Jul 3.