Details of Disease

General Information of Disease (ID: DISDXGE1)

Disease Name Neurodegeneration, childhood-onset, with cerebellar atrophy
Synonyms NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY; CONDCA
Disease Hierarchy
DISYKSRF: Genetic disease
DISDXGE1: Neurodegeneration, childhood-onset, with cerebellar atrophy
Disease Identifiers
MONDO ID
MONDO_0032650
UMLS CUI
C4748934
OMIM ID
618276
MedGen ID
1648286

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
AGTPBP1 OTR92JFR Definitive Autosomal recessive [1]
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References

1 Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. Am J Med Genet A. 2019 Aug;179(8):1580-1584. doi: 10.1002/ajmg.a.61198. Epub 2019 May 18.