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
..Abnormal circulating cysteine concentration (HP:0010918)

Term ID:

10918

Name:

Abnormal circulating cysteine concentration

Synonym:

Definition:

An abnormality of a cysteine metabolic process.

Comments:

Reference:

HP:0010918

Genes and Diseases:

Child Nodes:

........

Cystinuria (HP:0003131)

........

Elevated intracellular cystine (HP:0003358)

Sister Nodes:

Abnormal circulating homocysteine concentration (HP:0010919)

Abnormal circulating methionine concentration (HP:0010901)

Cystathioninemia (HP:0003286)

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:0010918	HP:0010918	Abnormal circulating cysteine concentration	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria		15
HP:0010918	HP:0010918	Abnormal circulating cysteine concentration	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0010918	HP:0010918	Abnormal circulating cysteine concentration	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0010918	HP:0500151	Hypercystinemia	1	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional	15
HP:0010918	HP:0500152	Hypocystinemia	1	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0010918	HP:0500152	Hypocystinemia	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20

Genes (3) :AASS GPHN NFE2L2

Diseases (3) :ORPHA:3124 OMIM:615501 OMIM:617744

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