Details of Disease

General Information of Disease (ID: DISL2MKS)

Disease Name Hyperlysinemia
Synonyms
Alpha-aminoadipic semialdehyde synthase deficiency; hyperlysinemia, type I; lysine:Alpha-ketoglutarate reductase deficiency; lysine intolerance; L-lysine:NAD-oxido-reductase deficiency; L-lysine NAD-oxido-reductase deficiency; hyperlysinemia, type 1; lysine alpha-ketoglutarate reductase deficiency; hyperlysinemia type I; hyperlysinemia (disease); hyperlysinemia
Definition Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.
Disease Hierarchy
DIS2XEJE: Inborn disorder of lysine and hydroxylysine metabolism
DISL2MKS: Hyperlysinemia
Disease Identifiers
MONDO ID
MONDO_0009388
MESH ID
D020167
UMLS CUI
C0268553
MedGen ID
82816
HPO ID
HP:0002161
Orphanet ID
2203
SNOMED CT ID
58558003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AASS OTYCN07T 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.