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 sulfur amino acid concentration (HP:0004339)

Parent Node:
Abnormal circulating cysteine concentration (HP:0010918)

..Starting node
..Elevated intracellular cystine (HP:0003358)

Term ID:

3358

Name:

Elevated intracellular cystine

Synonym:

Definition:

An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.

Comments:

Reference:

HP:0003358

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cystinuria (HP:0003131)

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:0003358	HP:0003358	Elevated intracellular cystine	0	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0003358	HP:0003358	Elevated intracellular cystine	0	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type	.	178
HP:0003358	HP:0003358	Elevated intracellular cystine	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0003358	HP:0003358	Elevated intracellular cystine	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0003358	HP:0003358	Elevated intracellular cystine	0	CTNS CL E G H	1497	2518	ORPHA:411641	Ocular cystinosis		178
HP:0003358	HP:0032639	Elevated leukocyte cystine	1	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic		178
HP:0003358	HP:0032639	Elevated leukocyte cystine	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0003358	HP:0032639	Elevated leukocyte cystine	1	CTNS CL E G H	1497	2518	ORPHA:411641	Ocular cystinosis	HP:0040281 - Very frequent	178

Genes (1) :CTNS

Diseases (5) :OMIM:219750 OMIM:219900 OMIM:219800 ORPHA:411634 ORPHA:411641

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