Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 26-02-2015

Symbol	UDCA
Location	1q42.13
Name	ubiquinone deficiency with cerebellar ataxia
Corresponding gene	ADCK3
Other symbol(s)	ARCA2, COQ10D4, SCAR9
Main clinical features	progressive neurological disorder with cerebellar atrophy and seizures developmental delay, and hyperlactatemia, with reduced ubiquinone in muscle tissue on brain MRI a severe cerebellar atrophy with stroke-like anomalies and hyperintensities on T2 and FLAIR a low endogenous pool of CoQ10 in fibroblasts or lymphoblasts, with impaired ubiquinone synthesis
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Remark(s)