Details of Disease | DrugMAP

General Information of Disease (ID: DIS6ONR0)

Disease Name	Primary dysautonomia
Synonyms	dysautonomia; dysautonomia, primary; Dysautonomias, primary; Dysautonomias; primary dysautonomia
Definition	Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate.
Disease Hierarchy	DISF4MT6: Dysautonomia DIS6ONR0: Primary dysautonomia

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
ELP1	TTY2XZ0	Definitive	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
ELP1	OTYEWBF7	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.