Miscellaneous Metabolic Disorders
Gene: ATIC
4 cases from 3 independent families. Deficiency causes an inborn error of purine metabolism.
Sources: NHS GMSCreated: 1 Feb 2021, 4:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AICA-ribosiduria due to ATIC deficiency MIM#608688; disorders of purine metabolism
Publications
AICA-ribosuria is characterized by severe to profound global neurodevelopmental impairment, severe visual impairment due to chorioretinal atrophy, ante-postnatal growth impairment, and severe scoliosis. Dysmorphic features include coarse facies and upturned nose. Early-onset epilepsy may occur. Less common features may include aortic coarctation, chronic hepatic cytolysis, minor genital malformations, and nephrocalcinosis. Three unrelated families reported.Created: 28 Dec 2020, 10:44 a.m. | Last Modified: 28 Dec 2020, 10:44 a.m.
Panel Version: 0.5845
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AICA-ribosiduria due to ATIC deficiency, MIM# 608688
Publications
Gene: atic has been classified as Green List (High Evidence).
Gene: atic has been classified as Green List (High Evidence).
gene: ATIC was added gene: ATIC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATIC were set to 15114530; 32557644 Phenotypes for gene: ATIC were set to AICA-ribosiduria due to ATIC deficiency MIM#608688; disorders of purine metabolism Review for gene: ATIC was set to GREEN