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:
Abnormal circulating carboxylic acid concentration (HP:0004354)

Parent Node:
Abnormality of amino acid metabolism (HP:0004337)

..Starting node
..Propionyl-CoA carboxylase deficiency (HP:0003353)

Term ID:

3353

Name:

Propionyl-CoA carboxylase deficiency

Synonym:

Definition:

An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.

Comments:

Reference:

HP:0003353

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating amino acid concentration (HP:0003112)

Abnormal circulating aromatic amino acid concentration (HP:0004338)

Abnormal circulating aspartate family amino acid concentration (HP:0010899)

Abnormal circulating branched chain amino acid concentration (HP:0010892)

Abnormal circulating citrulline concentration (HP:0011965)

Abnormal circulating creatine concentration (HP:0012113)

Abnormal circulating glutamine family amino acid concentration (HP:0010902)

Abnormal circulating histidine concentration (HP:0010904)

Abnormal circulating ornithine concentration (HP:0012025)

Abnormal circulating pyruvate family amino acid concentration (HP:0010915)

Abnormal circulating sulfur amino acid concentration (HP:0004339)

Aminoaciduria (HP:0003355)

Hyperbeta-alaninemia (HP:0012556)

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:0003353	HP:0003353	Propionyl-CoA carboxylase deficiency	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.	77
HP:0003353	HP:0003353	Propionyl-CoA carboxylase deficiency	0	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia	HP:0040281 - Very frequent	96
HP:0003353	HP:0003353	Propionyl-CoA carboxylase deficiency	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.	96
HP:0003353	HP:0003353	Propionyl-CoA carboxylase deficiency	0	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia	HP:0040281 - Very frequent	92
HP:0003353	HP:0003353	Propionyl-CoA carboxylase deficiency	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.	92

Genes (3) :MCCC2 PCCA PCCB

Diseases (3) :OMIM:210210 ORPHA:35 OMIM:606054

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