Details of Disease | DrugMAP

General Information of Disease (ID: DIS9LOSD)

Disease Name	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Synonyms	Dementia, Hereditary Multi-Infarct, Swedish Type; MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT; PADMAL; pontine autosomal dominant microangiopathy with leukoencephalopathy
Disease Hierarchy	DISD715V: Hereditary neurological disease DISAB237: Cerebrovascular disease DIS9LOSD: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0032814 UMLS CUI C5231411 OMIM ID 618564 MedGen ID 1684781 SNOMED CT ID 1173997008

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
COL4A1	OTL6D1YE	Moderate	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.