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GENATLAS PHENOTYPE
last update : 07-02-2020
Symbol ATAD3AD
Location 1p36.33
Name ATAD3A deficiency
Other name(s) Harel-Yoon syndrome
Corresponding gene ATAD3A
Other symbol(s) HAYOS
Main clinical features
  • global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy, assocaited in any cases with congenital cataract, ataxia, and seizures
  • motor developmental delay, and speech delay
  • MRI revealed hypoplasia of the optic nerves and cerebellar atrophy, and magnetic resonance spectroscopy (MRS) revealed a moderate reduction of N-acetyl aspartate to creatine (NAA/Cr) ratio in the cerebellum, indicating neuronal-axonal degeneration
    • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    cardiovascular
    cardiovascular
    Type disease
    Remark(s) . p.Arg528Trp variant functions through a dominant-negative mechanism that results in small mitochondria that trigger mitophagy, resulting in a reduction in mitochondrial content, and the recessive CNVs lead to infantile lethality likely through loss of ATAD3A function (PMID: 27340307))
  • ATAD3A-ATAD3C fusion protein is uniquely associated with the severe neonatal phenotype and therefore is likely causal (PMID: 32004445))