{ "disease_id": "DOID:0111038", "recommended_name": { "id": "DOID:0111038", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111038", "name": "hypermethioninemia due to adenosine kinase deficiency", "description": "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": [ { "id": "DOID:0111038", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111038", "name": "hypermethioninemia encephalopathy due to ADK deficiency", "description": "" }, { "id": "DOID:0111038", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111038", "name": "ADK hypermethioninemia", "description": "" }, { "id": "DOID:0111038", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111038", "name": "MRT8", "description": "" }, { "id": "DOID:0111038", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111038", "name": "autosomal recessive mental retardation 8", "description": "" }, { "id": "DOID:0111038", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111038", "name": "hypermethioninemia encephalopathy due to adenosine kinase deficiency", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "adenosine kinase deficiency", "description": "A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement." }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "ADK deficiency", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "ADK hypermethioninemia", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "MRT8", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "adenosine kinase deficiency", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "autosomal recessive intellectual disability 8", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "hypermethioninemia due to adenosine kinase deficiency", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "hypermethioninemia encephalopathy due to ADK deficiency", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "hypermethioninemia encephalopathy due to adenosine kinase deficiency", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "mental retardation, autosomal recessive 8", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "mental retardation, autosomal recessive 8, formerly", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "mental retardation, autosomal recessive 8; MRT8", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "adenosine kinase deficiency", "description": "A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement." }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "ADK deficiency", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "ADK hypermethioninemia", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "MRT8", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "adenosine kinase deficiency", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "autosomal recessive intellectual disability 8", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "hypermethioninemia due to adenosine kinase deficiency", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "hypermethioninemia encephalopathy due to ADK deficiency", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "hypermethioninemia encephalopathy due to adenosine kinase deficiency", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "mental retardation, autosomal recessive 8", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "mental retardation, autosomal recessive 8, formerly", "description": "" }, { "id": "MONDO:0100255", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "name": "mental retardation, autosomal recessive 8; MRT8", "description": "" }, { "id": "MIM:614300", "resource": "MIM", "url": "https://www.omim.org/entry/614300", "name": "Hypermethioninemia due to adenosine kinase deficiency", "description": "Hypermethioninemia due to adenosine kinase deficiency" } ], "children": [], "id_list": [ "DOID:0111038" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0111038", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111038", "categories": [] }, { "id": "MONDO:0100255", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100255", "categories": [] }, { "id": "MIM:614300", "database": "MIM", "url": "https://www.omim.org/entry/614300", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "P55264-1", "uniprot_ac": "P55264", "uniprot_id": "ADK_MOUSE", "refseq_ac": "NP_001229970", "glycoprotein": "yes", "species": [ { "name": "Mus 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111038" } ] }, { "uniprot_canonical_ac": "P55263-1", "uniprot_ac": "P55263", "uniprot_id": "ADK_HUMAN", "refseq_ac": "NP_001114", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Adenosine kinase", "type": "recommended" }, { "name": "2.7.1.-", "type": "synonym" }, { "name": "2.7.1.20", "type": "synonym" }, { "name": "AK", "type": "synonym" }, { "name": "Adenosine 5'-phosphotransferase", "type": "synonym" }, { "name": "N6,N6-dimethyladenosine kinase", "type": "synonym" }, { "name": "N6-isopentenyladenosine kinase", "type": "synonym" }, { "name": "N6-methyladenosine kinase", "type": "synonym" }, { "name": "adenosine 5'-phosphotransferase", "type": "synonym" }, { "name": "adenosine kinase isoform a", "type": "synonym" }, { "name": "testicular tissue protein Li 14", 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