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 hormone concentration (HP:0003117)

Parent Node:
Abnormal serum insulin-like growth factor 1 level (HP:0030352)

..Starting node
..Increased circulating insulin-like growth factor 1 concentration (HP:0030269)

Term ID:

30269

Name:

Increased circulating insulin-like growth factor 1 concentration

Synonym:

Elevated serum IGF1; Increased serum IGF1; Increased serum insulin-like growth factor 1

Definition:

An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.

Comments:

Reference:

HP:0030269

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased serum insulin-like growth factor 1 (HP:0030353)

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:0030269	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0030269	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0030269	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0030269	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0030269	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0030269	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0030269	HP:0030269	Increased circulating insulin-like growth factor 1 concentration	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134

Genes (6) :AIP GPR101 IGF1R MEN1 PDE11A PRKAR1A

Diseases (5) :OMIM:102200 ORPHA:99725 OMIM:300942 OMIM:270450 ORPHA:1359

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