Details of Disease | DrugMAP

General Information of Disease (ID: DISSYSPD)

Disease Name	Cystic leukoencephalopathy without megalencephaly
Synonyms	RNAse T2-deficient leukoencephalopathy; leukoencephalopathy, cystic, without megalencephaly; CLWM
Definition	Cystic leukoencephalopathy without megalencephaly is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.
Disease Hierarchy	DISVY1TT: Leukodystrophy DISSYSPD: Cystic leukoencephalopathy without megalencephaly
Disease Identifiers	MONDO ID MONDO_0013058 MESH ID C567845 UMLS CUI C2751843 OMIM ID 612951 MedGen ID 416646 Orphanet ID 85136 SNOMED CT ID 720825005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NDUFA2	OTNSTATK	Supportive	Autosomal recessive	[1]
RNASET2	OTWY64L7	Definitive	Autosomal recessive	[2]
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References

1	Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy. Clin Genet. 2018 Feb;93(2):396-400. doi: 10.1111/cge.13126. Epub 2017 Dec 21.
2	RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet. 2009 Jul;41(7):773-5. doi: 10.1038/ng.398. Epub 2009 Jun 14.