Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 glutamine family amino acid concentration (HP:0010902)

..Starting node
..Abnormal circulating proline concentration (HP:0010907)

Term ID:

10907

Name:

Abnormal circulating proline concentration

Synonym:

Definition:

Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.

Comments:

Reference:

HP:0010907

Genes and Diseases:

Child Nodes:

........

Hydroxyprolinuria (HP:0003080)

........

Prolinuria (HP:0003137)

........

Hydroxyprolinemia (HP:0003260)

........

Hyperprolinemia (HP:0008358)

........

Increased level of L-pyroglutamic acid in urine (HP:0410132)

Sister Nodes:

Abnormal circulating arginine concentration (HP:0010909)

Abnormal circulating glutamine concentration (HP:0010903)

Increased level of L-glutamic acid in blood (HP:0410068)

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:0010907	HP:0010907	Abnormal circulating proline concentration	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	ALDH4A1 CL E G H	8659	406	OMIM:239510	Hyperprolinemia, type II		74
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	PRODH CL E G H	5625	9453	ORPHA:419	Hyperprolinemia type 1		13
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I		13
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	PRODH CL E G H	5625	9453	OMIM:600850	Schizophrenia 4		13
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0010907	HP:0010907	Abnormal circulating proline concentration	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0010907	HP:0500140	Decreased circulating hydroxyproline concentration	1	CL E G H
HP:0010907	HP:0500139	Hypoprolinemia	1	CL E G H
HP:0010907	HP:0008358	Hyperprolinemia	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040281 - Very frequent	74
HP:0010907	HP:0008358	Hyperprolinemia	1	ALDH4A1 CL E G H	8659	406	OMIM:239510	Hyperprolinemia, type II	.	74
HP:0010907	HP:0008358	Hyperprolinemia	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0010907	HP:0008358	Hyperprolinemia	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0010907	HP:0008358	Hyperprolinemia	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0010907	HP:0008358	Hyperprolinemia	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0010907	HP:0008358	Hyperprolinemia	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0010907	HP:0008358	Hyperprolinemia	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0010907	HP:0008358	Hyperprolinemia	1	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency	HP:0040282 - Frequent	52
HP:0010907	HP:0008358	Hyperprolinemia	1	PRODH CL E G H	5625	9453	ORPHA:419	Hyperprolinemia type 1	HP:0040282 - Frequent	13
HP:0010907	HP:0008358	Hyperprolinemia	1	PRODH CL E G H	5625	9453	OMIM:239500	Hyperprolinemia, type I		13
HP:0010907	HP:0008358	Hyperprolinemia	1	PRODH CL E G H	5625	9453	OMIM:600850	Schizophrenia 4		13
HP:0010907	HP:0008358	Hyperprolinemia	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0010907	HP:0008358	Hyperprolinemia	1	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0010907	HP:0003260	Hydroxyprolinemia	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44

Genes (12) :ALDH4A1 COX10 COX16 COX5A LIPT1 NDUFB10 NDUFC2 PDP1 PRODH SLC7A7 TARS2 TNFRSF11B

Diseases (15) :ORPHA:79101 OMIM:239510 OMIM:619046 OMIM:619355 OMIM:619064 OMIM:616299 OMIM:619003 OMIM:619170 ORPHA:79246 ORPHA:419 OMIM:239500 OMIM:600850 ORPHA:470 OMIM:615918 OMIM:239000

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

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