Structural eye disease
Gene: ITPA
Biallelic loss-of-function mutations in ITPA have been associated with early infantile encephalopathy (Kevelam et al., Ann Neurol. 2015 Oct;78(4):649-58). The clinical presentation of complete ITPA-deficiency overlaps with that of two autosomal recessive conditions, Warburg Micro syndrome (MIM 600118, 614225, 615222, 615663) and Martsolf syndrome (MIM 212720) both of which can present with microphthalmia.Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation; None
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Biallelic loss-of-function mutations in ITPA have been associated with early infantile encephalopathy (Kevelam et al., Ann Neurol. 2015 Oct;78(4):649-58). The clinical presentation of complete ITPA-deficiency overlaps with that of two autosomal recessive conditions, Warburg Micro syndrome (MIM 600118, 614225, 615222, 615663) and Martsolf syndrome (MIM 212720) both of which can present with microphthalmia.Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation; None
Publications
gene: ITPA was added gene: ITPA was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPA were set to 26224535 Phenotypes for gene: ITPA were set to Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation; None