Structural eye disease

Gene: ITPA

Red List (low evidence)

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

• 26224535

Red List (low evidence)

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

• 26224535