Details of Disease | DrugMAP

General Information of Disease (ID: DIS058X7)

Disease Name	Adenosine kinase deficiency
Synonyms	mental retardation, autosomal recessive 8; MRT8; mental retardation, autosomal recessive 8, formerly; mental retardation, autosomal recessive 8; autosomal recessive intellectual disability 8; hypermethioninemia encephalopathy due to ADK deficiency; MRT8; hypermethioninemia due to adenosine kinase deficiency; autosomal recessive mental retardation 8; ADK deficiency; hypermethioninemia encephalopathy due to adenosine kinase deficiency; ADK hypermethioninemia; adenosine kinase deficiency
Definition	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.
Disease Hierarchy	DISJWRZZ: Autosomal recessive non-syndromic intellectual disability DISC7OZE: Disorder of methionine catabolism DIS058X7: Adenosine kinase deficiency
Disease Identifiers	MONDO ID MONDO_0100255 UMLS CUI C4706555 OMIM ID 614300 MedGen ID 1632232 Orphanet ID 289290 SNOMED CT ID 763721006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ADK	DE7T5VX	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADK	OTXR6VDI	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.