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 sulfur amino acid concentration (HP:0004339)

..Starting node
..Cystathioninemia (HP:0003286)

Term ID:

3286

Name:

Cystathioninemia

Synonym:

High blood cystathionine levels

Definition:

An increased concentration of cystathionine in the blood.

Comments:

Reference:

HP:0003286

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating cysteine concentration (HP:0010918)

Abnormal circulating homocysteine concentration (HP:0010919)

Abnormal circulating methionine concentration (HP:0010901)

Cystathioninuria (HP:0003153)

Sulfite oxidase deficiency (HP:0003643)

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:0003286	HP:0003286	Cystathioninemia	0	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria	HP:0040282 - Frequent	38
HP:0003286	HP:0003286	Cystathioninemia	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0003286	HP:0003286	Cystathioninemia	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0003286	HP:0003286	Cystathioninemia	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040281 - Very frequent	183
HP:0003286	HP:0003286	Cystathioninemia	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.

Genes (5) :CTH LMBRD1 MMACHC MTHFR PRDX1

Diseases (4) :ORPHA:212 OMIM:277380 OMIM:277400 ORPHA:395

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