Nucleotide metabolism disorders
Gene: AMPD3
Clinically asymptomatic.Created: 6 Apr 2022, 6:42 a.m. | Last Modified: 6 Apr 2022, 6:42 a.m.
Panel Version: 0.12574
Phenotypes
[AMP deaminase deficiency, erythrocytic] MIM#612874
PMID: 8004104 - 2 homozygous patients within a Japanese cohort. Complete deficiency in erythrocyte AMP deaminase detected, variant (p.R573C) has no homozygotes in gnomAD.
PMID: 11139257 - chet (missense x2) Japanese patient with erythrocyte AMP deaminase deficiency. Both variants were transfected into bacteria and functionally proven to be enzymatically defective compared to WT.
PMID: 24940686 - K/O mouse model shows reduced enzyme activity, with other enzymes involved in nucleotide metabolism unaffected. No other physiological changes described.
No homozygous PTCs in gnomADCreated: 4 Apr 2022, 5:01 a.m. | Last Modified: 4 Apr 2022, 5:01 a.m.
Panel Version: 0.12533
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
[AMP deaminase deficiency, erythrocytic] MIM#612874
Publications
gene: AMPD3 was added gene: AMPD3 was added to Nucleotide metabolism disorders. Sources: Expert Review Red Mode of inheritance for gene: AMPD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD3 were set to 8004104; 24940686; 11139257 Phenotypes for gene: AMPD3 were set to adenosine monophosphate deaminase deficiency MONDO:0013028