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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Abnormality of mitochondrial metabolism (HP:0003287)help
Parent Node:
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Aminoaciduria (HP:0003355)help
..Starting node
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3-Methylglutaconic aciduria (HP:0003535)help
Term ID: 3535
Name: 3-Methylglutaconic aciduria
Synonym: 3-Methylglutaconicaciduria
Definition: An increased amount of 3-methylglutaconic acid in the urine.
Comments:
Reference: HP:0003535
Genes and Diseases:
 
       Child Nodes:
........expand3-Methylglutaric aciduria (HP:0003344) help

 Sister Nodes: 
..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
..expandGeneralized aminoaciduria (HP:0002909) 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:0003535HP:00035353-Methylglutaconic aciduria0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0003535HP:00035353-Methylglutaconic aciduria0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040283 - Occasional5
HP:0003535HP:00035353-Methylglutaconic aciduria0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5.
HP:0003535HP:00035353-Methylglutaconic aciduria0ATP5F1E CL E G H514838OMIM:614053Mitochondrial complex V (atp synthase) deficiency, nuclear type 3.
HP:0003535HP:00035353-Methylglutaconic aciduria0ATPAF2 CL E G H9164718802OMIM:604273Mitochondrial complex V (atp synthase) deficiency, nuclear type 1.32
HP:0003535HP:00035353-Methylglutaconic aciduria0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 1HP:0040281 - Very frequent49
HP:0003535HP:00035353-Methylglutaconic aciduria0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0003535HP:00035353-Methylglutaconic aciduria0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040281 - Very frequent38
HP:0003535HP:00035353-Methylglutaconic aciduria0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0003535HP:00035353-Methylglutaconic aciduria0CLPB CL E G H8157030664OMIM:6198353-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A38
HP:0003535HP:00035353-Methylglutaconic aciduria0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040281 - Very frequent25
HP:0003535HP:00035353-Methylglutaconic aciduria0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0003535HP:00035353-Methylglutaconic aciduria0LETM1 CL E G H39546556OMIM:6200892
HP:0003535HP:00035353-Methylglutaconic aciduria0MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3HP:0040281 - Very frequent
HP:0003535HP:00035353-Methylglutaconic aciduria0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0003535HP:00035353-Methylglutaconic aciduria0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0003535HP:00035353-Methylglutaconic aciduria0OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3HP:0040281 - Very frequent163
HP:0003535HP:00035353-Methylglutaconic aciduria0OPA3 CL E G H802078142OMIM:2585013-methylglutaconic aciduria, type III163
HP:0003535HP:00035353-Methylglutaconic aciduria0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0003535HP:00035353-Methylglutaconic aciduria0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0003535HP:00035353-Methylglutaconic aciduria0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0003535HP:00035353-Methylglutaconic aciduria0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040281 - Very frequent60
HP:0003535HP:00035353-Methylglutaconic aciduria0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome.
HP:0003535HP:00035353-Methylglutaconic aciduria0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0003535HP:00035353-Methylglutaconic aciduria0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX.1
HP:0003535HP:00035353-Methylglutaconic aciduria0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0003535HP:00035353-Methylglutaconic aciduria0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040281 - Very frequent63


Genes (20) :AGK ATAD3A ATP5F1D ATP5F1E ATPAF2 AUH CLPB DNAJC19 HTRA2 LETM1 MICOS13 NGLY1 OPA3 POLG SDHA SERAC1 SUCLG1 TAFAZZIN TIMM50 TMEM70

Diseases (26) :OMIM:212350 ORPHA:496790 OMIM:618120 OMIM:614053 OMIM:604273 ORPHA:67046 OMIM:250950 ORPHA:445038 OMIM:616271 OMIM:619835 ORPHA:66634 OMIM:617248 OMIM:620089 ORPHA:67047 OMIM:618329 OMIM:615273 OMIM:258501 OMIM:203700 OMIM:619259 OMIM:614739 ORPHA:17 OMIM:302060 ORPHA:505216 OMIM:617698 OMIM:614052 ORPHA:1194
 

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