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 the endocrine system (HP:0000818)

Parent Node:
Abnormal endocrine physiology (HP:0031072)

..Starting node
..Abnormal response to glucagon stimulation test (HP:0031080)

Term ID:

31080

Name:

Abnormal response to glucagon stimulation test

Synonym:

Definition:

An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).

Comments:

Reference:

HP:0031080

Genes and Diseases:

Child Nodes:

........

Impaired cortisol response to glucagon stimulation test (HP:0031081)

........

Impaired growth-hormone response to glucagon stimulation test (HP:0031082)

........

Excessive insulin response to glucagon test (HP:0031084)

Sister Nodes:

Abnormal response to endocrine stimulation test (HP:0031073)

Abnormal response to human chorionic gonadotrophin stimulation test (HP:0031083)

Inappropriate antidiuretic hormone secretion (HP:0031218)

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:0031080	HP:0031080	Abnormal response to glucagon stimulation test	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0031080	HP:0031080	Abnormal response to glucagon stimulation test	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency		161
HP:0031080	HP:0031080	Abnormal response to glucagon stimulation test	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		127
HP:0031080	HP:0031080	Abnormal response to glucagon stimulation test	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0031080	HP:0031080	Abnormal response to glucagon stimulation test	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0031080	HP:0031080	Abnormal response to glucagon stimulation test	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0031080	HP:0031081	Impaired cortisol response to glucagon stimulation test	1	CL E G H
HP:0031080	HP:0031084	Excessive insulin response to glucagon test	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040281 - Very frequent	245
HP:0031080	HP:0031084	Excessive insulin response to glucagon test	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040281 - Very frequent	161
HP:0031080	HP:0031084	Excessive insulin response to glucagon test	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040281 - Very frequent	127
HP:0031080	HP:0031082	Impaired growth-hormone response to glucagon stimulation test	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0031080	HP:0031084	Excessive insulin response to glucagon test	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040281 - Very frequent	15

Genes (5) :ABCC8 HNF1A KCNJ11 MED12 UCP2

Diseases (6) :ORPHA:276575 ORPHA:324575 ORPHA:276580 ORPHA:79644 OMIM:301068 ORPHA:276556

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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