Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0111038 - hypermethioninemia due to adenosine kinase deficiency


Disease Ontology Definition:A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has material_basis_in homozygous mutation in the ADK gene on chromosome 10q22.

Synonyms: ADK hypermethioninemia, MRT8, autosomal recessive mental retardation 8, hypermethioninemia encephalopathy due to ADK deficiency, hypermethioninemia encephalopathy due to adenosine kinase deficiency

In OMIM:
OMIM:614300 - HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY

In Mondo Disease Ontology:
MONDO:0013676 - hypermethioninemia due to adenosine kinase deficiency

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : adk

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): hypermethioninemia (is_a)