GenTIGSA Gene Database on Rare Genetic Disorders
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Adenylosuccinate Lyase Deficiency  
Disease Aliases (18)

Adenylosuccinate lyase deficiency

Adsl deficiency

Adsld

Asase - adenylosuccinate lyase deficiency

Adenylosuccinase deficiency

Adenylosuccinate deficiency

Adenylosuccinate lyase deficiency type 1

Adenylosuccinate lyase deficiency type 2

Adenylosuccinate lyase deficiency type 3

Adenylosuccinate lyase deficiency type 4

Deficiency of adenylosuccinate lyase

Succinyladenosinuria

Succinylpurinemic autism

Adenylosuccinase deficiency; adsld

Adenylosuccinase lyase deficiency

Inborn (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity disorder

Inborn error of (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity

Rare inborn error of (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity

Associated Genes (1)
 

NCBI-RefSeq:  ADSL   (Adenylosuccinate lyase)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Adenylosuccinate lyase deficiency OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations