Human Phenotype Ontology 
Grandparent Node:
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Abnormality of amino acid metabolism (HP:0004337)help
Parent Node:
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Abnormal circulating glycine concentration (HP:0010895)help
Parent Node:
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Abnormality of serum amino acid level (HP:0003112)help
..Starting node
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Hyperglycinemia (HP:0002154)help
Term ID: 2154
Name: Hyperglycinemia
Synonym: Elevated blood glycine levels; Hyperglycinaemia
Definition: An elevated concentration of glycine in the blood.
Comments:
Reference: HP:0002154
Genes and Diseases:
 
       Child Nodes:
........expandNonketotic hyperglycinemia (HP:0008288) help

 Sister Nodes: 
..expandDecreased level of GABA in serum (HP:0410054) help
..expandHyperalaninemia (HP:0003348) help
..expandHyperglutaminemia (HP:0003217) help
..expandHyperlysinemia (HP:0002161) help
..expandHyperthreoninemia (HP:0003354) help
..expandHypoglycinemia (HP:0012277) help
..expandHypomethioninemia (HP:0003658) help
..expandIncreased level of GABA in serum (HP:0410053) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002154HP:0002154Hyperglycinemia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM196158473238310
HP:0002154HP:0002154Hyperglycinemia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM12864208238330
HP:0002154HP:0002154Hyperglycinemia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM14266664313238300
HP:0002154HP:0002154Hyperglycinemia0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM164520134609588
HP:0002154HP:0002154Hyperglycinemia0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17620818871607481
HP:0002154HP:0002154Hyperglycinemia0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM14220919331607568
HP:0002154HP:0002154Hyperglycinemia0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM13607526609058
HP:0002154HP:0002154Hyperglycinemia0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11493428653232000
HP:0002154HP:0002154Hyperglycinemia0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11312668654232050
HP:0002154HP:0002154Hyperglycinemia1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM196158473238310
HP:0002154HP:0002154Hyperglycinemia1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM12864208238330
HP:0002154HP:0002154Hyperglycinemia1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM14266664313238300
HP:0002154HP:0002154Hyperglycinemia1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM164520134609588
HP:0002154HP:0002154Hyperglycinemia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17620818871607481
HP:0002154HP:0002154Hyperglycinemia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM14220919331607568
HP:0002154HP:0002154Hyperglycinemia1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM13607526609058
HP:0002154HP:0002154Hyperglycinemia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11493428653232000
HP:0002154HP:0002154Hyperglycinemia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11312668654232050
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002154HP:0002154Hyperglycinemia0SLC30A10 CL E G H55532309854ORPHA0227325355611146
HP:0002154HP:0002154Hyperglycinemia1SLC30A10 CL E G H55532309854ORPHA0227325355611146


Genes (12) :AMT GCSH GLDC GLRX5 GLYCTK IRF6 MMAA MMAB MMUT PCCA PCCB SLC30A10

Diseases (10) :605899 616859 251100 251110 251000 606054 309854 401866 220120 1300
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.