Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
expandAbnormal circulating carbohydrate concentration (HP:0011013)help
..Starting node
..expandGlycopeptiduria (HP:0012067)help
Term ID: 12067
Name: Glycopeptiduria
Synonym: High urine glycopeptide levels
Definition: Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.
Comments:
Reference: HP:0012067
Genes and Diseases:
 
       Child Nodes:
........expandIncreased urinary O-linked sialopeptides (HP:0003461) help
........expandAspartylglucosaminuria (HP:0012068) help

 Sister Nodes: 
..expandAbnormal circulating glycerol level (HP:0031795) help
..expandAbnormal circulating polysaccharide concentration (HP:0011012) help
..expandAbnormal glucose homeostasis (HP:0011014) help
..expandAbnormal glucose-6-phosphate dehydrogenase level (HP:0410176) help
..expandAbnormal glycosylation (HP:0012345) help
..expandAbnormality of glycolysis (HP:0004366) help
..expandAbnormality of glycoside metabolism (HP:0003649) help
..expandDecreased CSF erythritol concentration (HP:0410056) help
..expandDecreased level of 1,5 anhydroglucitol in serum (HP:0410050) help
..expandDecreased level of D-mannose in urine (HP:0410060) help
..expandDecreased level of erythritol in urine (HP:0410055) help
..expandElevated circulating ribitol concentration (HP:0025550) help
..expandGlyoxalase deficiency (HP:0003258) help
..expandImpairment of fructose metabolism (HP:0011033) help
..expandImpairment of galactose metabolism (HP:0004915) help
..expandIncreased level of D-threitol in CSF (HP:0410058) help
..expandIncreased level of D-threitol in plasma (HP:0410057) help
..expandIncreased level of D-threitol in urine (HP:0410059) help
..expandIncreased level of galactitol in plasma (HP:0410061) help
..expandIncreased level of galactitol in red blood cells (HP:0410064) help
..expandIncreased level of galactitol in urine (HP:0410062) help
..expandIncreased level of L-fucose in urine (HP:0410067) help
..expandIncreased level of N-acetylneuraminic acid in fibroblasts (HP:0410157) help
..expandIncreased level of N-acetylneuraminic acid in urine (HP:0410156) help
..expandIncreased level of ribitol in CSF (HP:0410071) help
..expandIncreased level of ribitol in urine (HP:0410070) help
..expandIncreased level of ribose in CSF (HP:0410073) help
..expandIncreased level of ribose in urine (HP:0410072) help
..expandIncreased level of xylitol in CSF (HP:0410075) help
..expandIncreased level of xylitol in urine (HP:0410074) help
..expandIncreased urinary sedoheptulose (HP:0025157) help
..expandOligosacchariduria (HP:0010471) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012067HP:0012067Glycopeptiduria0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA76
HP:0012067HP:0012067Glycopeptiduria0AGA CL E G H175318ORPHA:93Aspartylglucosaminuria76
HP:0012067HP:0012067Glycopeptiduria0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0012067HP:0012067Glycopeptiduria0NAGA CL E G H46687631OMIM:609242Kanzaki disease47
HP:0012067HP:0012067Glycopeptiduria0NAGA CL E G H46687631OMIM:609241Schindler disease, type I47
HP:0012067HP:0012067Glycopeptiduria0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency43
HP:0012067HP:0012067Glycopeptiduria0NEU1 CL E G H47587758ORPHA:812Sialidosis type 143
HP:0012067HP:0012068Aspartylglucosaminuria1AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0012067HP:0012068Aspartylglucosaminuria1AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040281 - Very frequent76
HP:0012067HP:0003461Increased urinary O-linked sialopeptides1NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0012067HP:0003461Increased urinary O-linked sialopeptides1NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0012067HP:0003461Increased urinary O-linked sialopeptides1NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0012067HP:0003461Increased urinary O-linked sialopeptides1NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040281 - Very frequent43


Genes (4) :AGA FUCA1 NAGA NEU1

Diseases (7) :OMIM:208400 ORPHA:93 OMIM:230000 OMIM:609242 OMIM:609241 OMIM:256550 ORPHA:812
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.