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 amino acid metabolism (HP:0004337)

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

..Starting node
..Abnormal circulating leucine concentration (HP:0004357)

Term ID:

4357

Name:

Abnormal circulating leucine concentration

Synonym:

Definition:

Any deviation from the normal circulation of leucine in the blood circulation.

Comments:

Reference:

HP:0004357

Genes and Diseases:

Child Nodes:

........

Defective dehydrogenation of isovaleryl CoA and butyryl CoA (HP:0003490)

........

Hyperleucinemia (HP:0010911)

Sister Nodes:

Abnormal circulating isoleucine concentration (HP:0010912)

Abnormal circulating valine concentration (HP:0010914)

Elevated plasma branched chain amino acids (HP:0008344)

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:0004357	HP:0004357	Abnormal circulating leucine concentration	0	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0004357	HP:0004357	Abnormal circulating leucine concentration	0	MCCC1 CL E G H	56922	6936	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040281 - Very frequent	81
HP:0004357	HP:0004357	Abnormal circulating leucine concentration	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0004357	HP:0004357	Abnormal circulating leucine concentration	0	MCCC2 CL E G H	64087	6937	ORPHA:6	3-methylcrotonyl-CoA carboxylase deficiency	HP:0040281 - Very frequent	77
HP:0004357	HP:0004357	Abnormal circulating leucine concentration	0	PPM1K CL E G H	152926	25415	OMIM:615135	MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV		1
HP:0004357	HP:0500143	Hypoleucinemia	1	CL E G H
HP:0004357	HP:0010911	Hyperleucinemia	1	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0004357	HP:0010911	Hyperleucinemia	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0004357	HP:0010911	Hyperleucinemia	1	PPM1K CL E G H	152926	25415	OMIM:615135	MAPLE SYRUP URINE DISEASE, MILD VARIANT; MSUDMV		1

Genes (4) :BCAT2 MCCC1 MCCC2 PPM1K

Diseases (4) :OMIM:618850 ORPHA:6 OMIM:210210 OMIM:615135

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