Details of Disease

General Information of Disease (ID: DISYMHY8)

Disease Name Phosphohydroxylysinuria
Synonyms PHLU; PHOSPHOHYDROXYLYSINURIA; phosphohydroxylysinuria; Phosphohydroxylysinuria
Disease Hierarchy
DISYKSRF: Genetic disease
DISYMHY8: Phosphohydroxylysinuria
Disease Identifiers
MONDO ID
MONDO_0014008
UMLS CUI
C3554344
OMIM ID
615011
MedGen ID
767258
HPO ID
HP:0031870

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PHYKPL OTQGELZD Limited Autosomal recessive [1]
HYKK OTBK1QPN Strong Genetic Variation [2]
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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.
2 Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine.J Biol Chem. 2012 Mar 2;287(10):7246-55. doi: 10.1074/jbc.M111.323485. Epub 2012 Jan 12.