Details of Disease | DrugMAP

General Information of Disease (ID: DISNL62C)

Disease Name	Null syndrome
Synonyms	PLP1 null syndrome; Pelizaeus-Merzbacher disease, null syndrome
Definition	The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy.
Disease Hierarchy	DIS1ODJO: Pelizeaus-Merzbacher spectrum disorder DISNL62C: Null syndrome
Disease Identifiers	MONDO ID MONDO_0017225 UMLS CUI C5439441 MedGen ID 1740046 Orphanet ID 280234 SNOMED CT ID 1003447007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLP1	OT8CM9CX	Supportive	X-linked	[1]
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References

1	PLP1 Disorders. 1999 Jun 15 [updated 2019 Dec 19]. 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.