Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of acid-base homeostasis (HP:0004360)

Parent Node:
Abnormal circulating dicarboxylic acid concentration (HP:0010995)

Parent Node:
Acidosis (HP:0001941)

..Starting node
..Elevated circulating glutaric acid concentration (HP:0003530)

Term ID:

3530

Name:

Elevated circulating glutaric acid concentration

Synonym:

Glutarate acidemia; Glutaric acidemia

Definition:

An increased concentration of glutaric acid in the blood.

Comments:

Reference:

HP:0003530

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic acidosis (HP:0012468)

Dicarboxylic acidemia (HP:0040145)

Hyperchloremic acidosis (HP:0001995)

Increased serum lactate (HP:0002151)

Ketoacidosis (HP:0001993)

Lactic acidosis (HP:0003128)

Metabolic acidosis (HP:0001942)

Methylmalonic acidemia (HP:0002912)

Oroticaciduria (HP:0003218)

Phenylpyruvic acidemia (HP:0004920)

Propionic acidemia (HP:0003571)

Renal tubular acidosis (HP:0001947)

Respiratory acidosis (HP:0005972)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003530	HP:0003530	Elevated circulating glutaric acid concentration	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040281 - Very frequent	25
HP:0003530	HP:0003530	Elevated circulating glutaric acid concentration	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0003530	HP:0003530	Elevated circulating glutaric acid concentration	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0003530	HP:0003530	Elevated circulating glutaric acid concentration	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0003530	HP:0003530	Elevated circulating glutaric acid concentration	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0003530	HP:0003530	Elevated circulating glutaric acid concentration	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional	8

Genes (6) :DNAJC19 ETFA ETFB ETFDH GCDH SUGCT

Diseases (4) :ORPHA:66634 OMIM:231680 OMIM:231670 ORPHA:35706

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