Details of Disease | DrugMAP

General Information of Disease (ID: DISITKR1)

Disease Name	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
Synonyms	CONDSIAS; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
Definition	Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISPN7D2: Inherited neurodegenerative disorder DISITKR1: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
Disease Identifiers	MONDO ID MONDO_0100095 UMLS CUI C4748527 OMIM ID 618170 MedGen ID 1648391

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
ADPRS	OTI1KPN6	Strong	Autosomal recessive	[1]
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References

1	A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genet Med. 2017 Sep;19(9):1055-1063. doi: 10.1038/gim.2017.1. Epub 2017 Mar 23.