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 endocrine physiology (HP:0031072)

Parent Node:
Abnormal response to endocrine stimulation test (HP:0031073)

..Starting node
..Abnormal response to insulin tolerance test (HP:0031075)

Term ID:

31075

Name:

Abnormal response to insulin tolerance test

Synonym:

Definition:

An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.

Comments:

Reference:

HP:0031075

Genes and Diseases:

Child Nodes:

........

Impaired cortisol response to insulin stimulation test (HP:0031076)

........

Impaired growth-hormone response to insulin stimulation test (HP:0031079)

Sister Nodes:

Abnormal response to ACTH stimulation test (HP:0031074)

Abnormal response to corticotropin releasing hormone stimulation test (HP:0031077)

Abnormal response to gonadotropin-releasing hormone stimulation test (HP:0031279)

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:0031075	HP:0031075	Abnormal response to insulin tolerance test	0	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4		44
HP:0031075	HP:0031075	Abnormal response to insulin tolerance test	0	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4		43
HP:0031075	HP:0031075	Abnormal response to insulin tolerance test	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0031075	HP:0031075	Abnormal response to insulin tolerance test	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0031075	HP:0031075	Abnormal response to insulin tolerance test	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0031075	HP:0031075	Abnormal response to insulin tolerance test	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0031075	HP:0031075	Abnormal response to insulin tolerance test	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0031075	HP:0031075	Abnormal response to insulin tolerance test	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0031075	HP:0031079	Impaired growth-hormone response to insulin stimulation test	1	GHRHR CL E G H	2692	4266	OMIM:618157	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4		44
HP:0031075	HP:0031079	Impaired growth-hormone response to insulin stimulation test	1	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4		43
HP:0031075	HP:0031076	Impaired cortisol response to insulin stimulation test	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	94
HP:0031075	HP:0031076	Impaired cortisol response to insulin stimulation test	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	26
HP:0031075	HP:0031076	Impaired cortisol response to insulin stimulation test	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	13
HP:0031075	HP:0031079	Impaired growth-hormone response to insulin stimulation test	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0031075	HP:0031076	Impaired cortisol response to insulin stimulation test	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	45
HP:0031075	HP:0031076	Impaired cortisol response to insulin stimulation test	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040281 - Very frequent	85

Genes (8) :GHRHR LHX4 MC2R MRAP NNT POU1F1 STAR TXNRD2

Diseases (4) :OMIM:618157 OMIM:262700 ORPHA:361 OMIM:613038

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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