General Information of Disease (ID: DISAX8L9)

Disease Name Infantile cerebellar-retinal degeneration
Synonyms infantile cerebellar retinal degeneration; ICRD; infantile cerebellar-retinal degeneration
Definition
Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.
Disease Hierarchy
DIS1L24B: Eye degenerative disorder
DISGGL77: Inherited retinal dystrophy
DISPN7D2: Inherited neurodegenerative disorder
DISB4I0S: Tricarboxylic acid cycle disorder
DISAX8L9: Infantile cerebellar-retinal degeneration
Disease Identifiers
MONDO ID
MONDO_0013802
UMLS CUI
C3281192
OMIM ID
614559
MedGen ID
482822
Orphanet ID
313850
SNOMED CT ID
782822006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACO2 TTMTF2P Limited Genetic Variation [1]
ACO2 TTMTF2P Strong Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACO2 OTF2UVNV Strong Autosomal recessive [2]
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References

1 Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.J Inherit Metab Dis. 2019 Mar;42(2):264-275. doi: 10.1002/jimd.12022. Epub 2019 Jan 28.
2 Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. Am J Hum Genet. 2012 Mar 9;90(3):518-23. doi: 10.1016/j.ajhg.2012.01.009.