Details of Disease | DrugMAP

General Information of Disease (ID: DISHXT4J)

Disease Name	Cerebellar atrophy with seizures and variable developmental delay
Synonyms	CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY; CASVDD
Disease Hierarchy	DISYKSRF: Genetic disease DISHXT4J: Cerebellar atrophy with seizures and variable developmental delay
Disease Identifiers	MONDO ID MONDO_0032788 UMLS CUI C5193132 OMIM ID 618501 MedGen ID 1683734

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA2D2	TTU8P3M	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CACNA2D2	OTFJXVQQ	Strong	Autosomal recessive	[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.