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 glucose homeostasis (HP:0011014)

Parent Node:
Glucose intolerance (HP:0001952)

..Starting node
..Impaired glucose tolerance (HP:0040270)

Term ID:

40270

Name:

Impaired glucose tolerance

Synonym:

Decreased glucose tolerance; Glucose tolerance decreased

Definition:

An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.

Comments:

Reference:

HP:0040270

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal oral glucose tolerance (HP:0004924)

obsolete Glucose intolerance (HP:0000833)

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:0040270	HP:0040270	Impaired glucose tolerance	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY		245
HP:0040270	HP:0040270	Impaired glucose tolerance	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	95
HP:0040270	HP:0040270	Impaired glucose tolerance	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY		2
HP:0040270	HP:0040270	Impaired glucose tolerance	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0040270	HP:0040270	Impaired glucose tolerance	0	BLK CL E G H	640	1057	ORPHA:552	MODY		75
HP:0040270	HP:0040270	Impaired glucose tolerance	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0040270	HP:0040270	Impaired glucose tolerance	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0040270	HP:0040270	Impaired glucose tolerance	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0040270	HP:0040270	Impaired glucose tolerance	0	CEL CL E G H	1056	1848	ORPHA:552	MODY		25
HP:0040270	HP:0040270	Impaired glucose tolerance	0	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.	13
HP:0040270	HP:0040270	Impaired glucose tolerance	0	GCK CL E G H	2645	4195	ORPHA:552	MODY		237
HP:0040270	HP:0040270	Impaired glucose tolerance	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY		161
HP:0040270	HP:0040270	Impaired glucose tolerance	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome	.	90
HP:0040270	HP:0040270	Impaired glucose tolerance	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY		138
HP:0040270	HP:0040270	Impaired glucose tolerance	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040284 - Very rare	48
HP:0040270	HP:0040270	Impaired glucose tolerance	0	INS CL E G H	3630	6081	ORPHA:552	MODY		62
HP:0040270	HP:0040270	Impaired glucose tolerance	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0040270	HP:0040270	Impaired glucose tolerance	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		127
HP:0040270	HP:0040270	Impaired glucose tolerance	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY		127
HP:0040270	HP:0040270	Impaired glucose tolerance	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY		78
HP:0040270	HP:0040270	Impaired glucose tolerance	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia		645
HP:0040270	HP:0040270	Impaired glucose tolerance	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.	26
HP:0040270	HP:0040270	Impaired glucose tolerance	0	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus	.
HP:0040270	HP:0040270	Impaired glucose tolerance	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY		32
HP:0040270	HP:0040270	Impaired glucose tolerance	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0040270	HP:0040270	Impaired glucose tolerance	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0040270	HP:0040270	Impaired glucose tolerance	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY		55
HP:0040270	HP:0040270	Impaired glucose tolerance	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY		30
HP:0040270	HP:0040270	Impaired glucose tolerance	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.	45
HP:0040270	HP:0040270	Impaired glucose tolerance	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0040270	HP:0040270	Impaired glucose tolerance	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent	71
HP:0040270	HP:0040270	Impaired glucose tolerance	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4	.	56
HP:0040270	HP:0040270	Impaired glucose tolerance	0	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption		74
HP:0040270	HP:0040270	Impaired glucose tolerance	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0040270	HP:0040270	Impaired glucose tolerance	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0040270	HP:0040270	Impaired glucose tolerance	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0040270	HP:0040270	Impaired glucose tolerance	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.	7
HP:0040270	HP:0040270	Impaired glucose tolerance	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant	HP:0040284 - Very rare	389
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040282 - Frequent	245
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040282 - Frequent	2
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040282 - Frequent	75
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040282 - Frequent	25
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040282 - Frequent	237
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040282 - Frequent	161
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040282 - Frequent	138
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040282 - Frequent	62
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent	127
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040282 - Frequent	127
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040282 - Frequent	78
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040282 - Frequent	32
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040282 - Frequent	55
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040282 - Frequent	30
HP:0040270	HP:0004924	Abnormal oral glucose tolerance	1	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.	74

Genes (36) :ABCC8 AIP APPL1 ATRX BLK BRAF CAV1 CDH23 CEL ESR1 GCK HNF1A HNF1B HNF4A IFT172 INS INSR KCNJ11 KLF11 LMNA LRP6 MAFA NEUROD1 NR3C1 NSMCE2 PAX4 PDX1 POLG2 PSMB8 SLC2A2 SLC40A1 SLC5A1 TP53 USP48 USP8 WFS1

Diseases (19) :ORPHA:552 OMIM:219090 ORPHA:96253 OMIM:606721 OMIM:615363 OMIM:137920 OMIM:615630 ORPHA:769 ORPHA:276580 OMIM:248370 OMIM:610947 OMIM:147630 OMIM:617253 OMIM:610131 OMIM:256040 ORPHA:2088 OMIM:606069 OMIM:606824 OMIM:614296

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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