Details of Disease

General Information of Disease (ID: DISD1PUT)

Disease Name Inborn glycerol kinase deficiency
Synonyms
GK1 deficiency; GK deficiency; GKD; hyperglycerolemia; glycerol kinase deficiency; rare inborn error of glycerol kinase activity; glycerol kinase deficiency, X-linked recessive; inborn glycerol kinase activity disorder; inborn error of glycerol kinase activity
Definition An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.
Disease Hierarchy
DISO5FAY: Inborn error of metabolism
DISD1PUT: Inborn glycerol kinase deficiency
Disease Identifiers
MONDO ID
MONDO_0010613
MESH ID
C000721294
UMLS CUI
C0268418
OMIM ID
307030
MedGen ID
82803
HPO ID
HP:0040302
Orphanet ID
308993
SNOMED CT ID
124322002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NR0B1 TTTK36V Strong Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GK OTK2YRA0 Definitive X-linked [2]
------------------------------------------------------------------------------------

References

1 Noninvasive neurophysiological mapping of the lower urinary tract in adult and aging rhesus macaques.J Neurophysiol. 2018 Apr 1;119(4):1521-1527. doi: 10.1152/jn.00840.2017. Epub 2018 Jan 17.
2 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.