Human Phenotype Ontology 
Grandparent Node:
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Abnormality of amino acid metabolism (HP:0004337)help
Grandparent Node:
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Aciduria (HP:0012072)help
Parent Node:
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Aminoaciduria (HP:0003355)help
..Starting node
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Generalized aminoaciduria (HP:0002909)help
Term ID: 2909
Name: Generalized aminoaciduria
Synonym: Generalised aminoaciduria; Generalised nonspecific aminoaciduria; Generalized nonspecific aminoaciduria
Definition: An increased concentration of all types of amino acid in the urine.
Comments:
Reference: HP:0002909
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expand3-Methylglutaconic aciduria (HP:0003535) help
..expandArgininuria (HP:0003268) help
..expandCarnosinuria (HP:0003167) help
..expandComplex organic aciduria (HP:0008336) help
..expandCystathioninuria (HP:0003153) help
..expandCystinuria (HP:0003131) help
..expandDiaminoaciduria (HP:0008339) help
..expandDibasicaminoaciduria (HP:0003168) help
..expandElevated urinary aminoisobutyric acid (HP:0045034) help
..expandHistidinuria (HP:0002927) help
..expandHomocystinuria (HP:0002156) help
..expandHydroxyprolinuria (HP:0003080) help
..expandHyperglutaminuria (HP:0025376) help
..expandHyperglycinuria (HP:0003108) help
..expandHyperlysinuria (HP:0003297) help
..expandHyperthreoninuria (HP:0003296) help
..expandIncreased urinary taurine (HP:0003166) help
..expandLacticaciduria (HP:0003648) help
..expandNeutral hyperaminoaciduria (HP:0008353) help
..expandobsolete Renal aminoaciduria (HP:0008335) help
..expandOrnithinuria (HP:0003532) help
..expandPhosphohydroxylysinuria (HP:0031870) help
..expandProlinuria (HP:0003137) help
..expandTransient aminoaciduria (HP:0008273) help
..expandTryptophanuria (HP:0003361) 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:0002909HP:0002909Generalized aminoaciduria0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0002909HP:0002909Generalized aminoaciduria0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent41
HP:0002909HP:0002909Generalized aminoaciduria0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0002909HP:0002909Generalized aminoaciduria0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent5
HP:0002909HP:0002909Generalized aminoaciduria0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0002909HP:0002909Generalized aminoaciduria0EHHADH CL E G H19623247ORPHA:3337Primary Fanconi renotubular syndromeHP:0040281 - Very frequent2
HP:0002909HP:0002909Generalized aminoaciduria0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0002909HP:0002909Generalized aminoaciduria0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0002909HP:0002909Generalized aminoaciduria0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0002909HP:0002909Generalized aminoaciduria0FAH CL E G H21843579ORPHA:882Tyrosinemia type 1HP:0040281 - Very frequent107
HP:0002909HP:0002909Generalized aminoaciduria0GATM CL E G H26284175ORPHA:3337Primary Fanconi renotubular syndromeHP:0040281 - Very frequent86
HP:0002909HP:0002909Generalized aminoaciduria0NDUFAF6 CL E G H13768228625ORPHA:3337Primary Fanconi renotubular syndromeHP:0040281 - Very frequent39
HP:0002909HP:0002909Generalized aminoaciduria0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0002909HP:0002909Generalized aminoaciduria0SLC2A2 CL E G H651411006OMIM:227810Fanconi-Bickel syndrome.71
HP:0002909HP:0002909Generalized aminoaciduria0SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndromeHP:0040283 - Occasional71
HP:0002909HP:0002909Generalized aminoaciduria0SLC34A1 CL E G H656911019OMIM:613388Fanconi renotubular syndrome 2.47
HP:0002909HP:0002909Generalized aminoaciduria0SLC34A1 CL E G H656911019ORPHA:3337Primary Fanconi renotubular syndromeHP:0040281 - Very frequent47


Genes (14) :CTNS CYP27B1 CYP2R1 DGUOK EHHADH ETFA ETFB ETFDH FAH GATM NDUFAF6 NGLY1 SLC2A2 SLC34A1

Diseases (11) :OMIM:219800 ORPHA:289157 OMIM:264700 OMIM:251880 ORPHA:3337 OMIM:231680 ORPHA:882 ORPHA:404454 OMIM:227810 ORPHA:2088 OMIM:613388
 

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