Details of Disease

General Information of Disease (ID: DISVXFH2)

Disease Name Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
Synonyms CONATOC; NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
Disease Hierarchy
DISYKSRF: Genetic disease
DISVXFH2: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
Disease Identifiers
MONDO ID
MONDO_0030028
UMLS CUI
C5394335
OMIM ID
618868
MedGen ID
1715031

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC44A1 DT3I2SU Strong Autosomal recessive [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC44A1 OT46R03O Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798.