Features include always present findings: Low-molecular-weight proteinuria, Aminoaciduria, Elevated circulating alkaline phosphatase concentration, and Glycosuria and others; and common findings: Hypophosphatemia. 16 total HPO annotations.

GATM encodes glycine amidinotransferase (423 aa). Transamidinase that catalyzes the transfer of the amidino group of L-arginine onto the amino moiety of acceptor metabolites such as glycine, beta-alanine, gamma-aminobutyric acid (GABA) and taurine yielding the corresponding guanidine derivatives. Highest expression in Pancreas (589.5 TPM) and Liver (322.8 TPM).

Fanconi renotubular syndrome 1 is associated with mutations in the GATM gene on chromosome 15.

GATM is classified as a druggable target (Enzyme and Transporter categories) with score 3.5.

Genetic testing for GATM is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Fanconi renotubular syndrome 1 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 1 common feature.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

37 publications have been identified in PubMed for Fanconi renotubular syndrome 1. Research spans Case Report / Case Series (29%), Review / Meta-Analysis (26%), and Epidemiology / Natural History (20%).