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:
Abnormal blood glucose concentration (HP:0011015)

..Starting node
..Hyperglycemia (HP:0003074)

Term ID:

3074

Name:

Hyperglycemia

Synonym:

High blood glucose; High blood sugar

Definition:

An increased concentration of glucose in the blood.

Comments:

Reference:

HP:0003074

Genes and Diseases:

Child Nodes:

........

Postprandial hyperglycemia (HP:0011998)

Sister Nodes:

Hypoglycemia (HP:0001943)

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:0003074	HP:0003074	Hyperglycemia	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040280 - Obligate	245
HP:0003074	HP:0003074	Hyperglycemia	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3		245
HP:0003074	HP:0003074	Hyperglycemia	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0003074	HP:0003074	Hyperglycemia	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040282 - Frequent	245
HP:0003074	HP:0003074	Hyperglycemia	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0003074	HP:0003074	Hyperglycemia	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional	91
HP:0003074	HP:0003074	Hyperglycemia	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0003074	HP:0003074	Hyperglycemia	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040282 - Frequent	2
HP:0003074	HP:0003074	Hyperglycemia	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	.	7
HP:0003074	HP:0003074	Hyperglycemia	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0003074	HP:0003074	Hyperglycemia	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0003074	HP:0003074	Hyperglycemia	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040282 - Frequent	75
HP:0003074	HP:0003074	Hyperglycemia	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent
HP:0003074	HP:0003074	Hyperglycemia	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0003074	HP:0003074	Hyperglycemia	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0003074	HP:0003074	Hyperglycemia	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040282 - Frequent	25
HP:0003074	HP:0003074	Hyperglycemia	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0003074	HP:0003074	Hyperglycemia	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0003074	HP:0003074	Hyperglycemia	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.	37
HP:0003074	HP:0003074	Hyperglycemia	0	GCK CL E G H	2645	4195	OMIM:606176	DIABETES MELLITUS, PERMANENT NEONATAL; PNDM		237
HP:0003074	HP:0003074	Hyperglycemia	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	237
HP:0003074	HP:0003074	Hyperglycemia	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040282 - Frequent	237
HP:0003074	HP:0003074	Hyperglycemia	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0003074	HP:0003074	Hyperglycemia	0	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver		100
HP:0003074	HP:0003074	Hyperglycemia	0	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency		100
HP:0003074	HP:0003074	Hyperglycemia	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent	38
HP:0003074	HP:0003074	Hyperglycemia	0	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	161
HP:0003074	HP:0003074	Hyperglycemia	0	HNF1A CL E G H	6927	11621	OMIM:600496	Maturity-onset diabetes of the young, type III	.	161
HP:0003074	HP:0003074	Hyperglycemia	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040282 - Frequent	161
HP:0003074	HP:0003074	Hyperglycemia	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040282 - Frequent	138
HP:0003074	HP:0003074	Hyperglycemia	0	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0003074	HP:0003074	Hyperglycemia	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0003074	HP:0003074	Hyperglycemia	0	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	2
HP:0003074	HP:0003074	Hyperglycemia	0	INS CL E G H	3630	6081	OMIM:618858	DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4		62
HP:0003074	HP:0003074	Hyperglycemia	0	INS CL E G H	3630	6081	OMIM:616214	Hyperproinsulinemia	HP:0040283 - Occasional	62
HP:0003074	HP:0003074	Hyperglycemia	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	62
HP:0003074	HP:0003074	Hyperglycemia	0	INS CL E G H	3630	6081	OMIM:613370	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10		62
HP:0003074	HP:0003074	Hyperglycemia	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040282 - Frequent	62
HP:0003074	HP:0003074	Hyperglycemia	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0003074	HP:0003074	Hyperglycemia	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0003074	HP:0003074	Hyperglycemia	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0003074	HP:0003074	Hyperglycemia	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0003074	HP:0003074	Hyperglycemia	0	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.
HP:0003074	HP:0003074	Hyperglycemia	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis		73
HP:0003074	HP:0003074	Hyperglycemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040280 - Obligate	127
HP:0003074	HP:0003074	Hyperglycemia	0	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2		127
HP:0003074	HP:0003074	Hyperglycemia	0	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.	127
HP:0003074	HP:0003074	Hyperglycemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0003074	HP:0003074	Hyperglycemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040282 - Frequent	127
HP:0003074	HP:0003074	Hyperglycemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0003074	HP:0003074	Hyperglycemia	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0003074	HP:0003074	Hyperglycemia	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040282 - Frequent	78
HP:0003074	HP:0003074	Hyperglycemia	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0003074	HP:0003074	Hyperglycemia	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0003074	HP:0003074	Hyperglycemia	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0003074	HP:0003074	Hyperglycemia	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040280 - Obligate	34
HP:0003074	HP:0003074	Hyperglycemia	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040282 - Frequent	32
HP:0003074	HP:0003074	Hyperglycemia	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040282 - Frequent	55
HP:0003074	HP:0003074	Hyperglycemia	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0003074	HP:0003074	Hyperglycemia	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040282 - Frequent	30
HP:0003074	HP:0003074	Hyperglycemia	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0003074	HP:0003074	Hyperglycemia	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent
HP:0003074	HP:0003074	Hyperglycemia	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0003074	HP:0003074	Hyperglycemia	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0003074	HP:0003074	Hyperglycemia	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.	22
HP:0003074	HP:0003074	Hyperglycemia	0	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	3
HP:0003074	HP:0003074	Hyperglycemia	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0003074	HP:0003074	Hyperglycemia	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS		2
HP:0003074	HP:0003074	Hyperglycemia	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis		263
HP:0003074	HP:0003074	Hyperglycemia	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:0003074	HP:0003074	Hyperglycemia	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome		71
HP:0003074	HP:0003074	Hyperglycemia	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	110
HP:0003074	HP:0003074	Hyperglycemia	0	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.	30
HP:0003074	HP:0003074	Hyperglycemia	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0003074	HP:0003074	Hyperglycemia	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0003074	HP:0025691	Impaired fasting glucose	1	CL E G H
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040282 - Frequent	247
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	247
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver	.	100
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	GYS2 CL E G H	2998	4707	ORPHA:2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	HP:0040282 - Frequent	100
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040281 - Very frequent	229
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040282 - Frequent	73
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	10
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040282 - Frequent	263
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0003074	HP:0011998	Postprandial hyperglycemia	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent	71

Genes (49) :ABCC8 ACAT1 AFF4 APPL1 ARMC5 BBS9 BCS1L BLK BMP6 CACNA1S CEL CYC1 GABRA3 GATA6 GCK GLI3 GYS2 HFE HNF1A HNF4A HYMAI IL6 INS INSR ITPR3 KCNE3 KCNJ11 KCNJ18 KLF11 LMNA LRPPRC NARS2 NEUROD1 PAX4 PDX1 PIK3R1 PLAGL1 PPARG PRORP PTF1A PTPN22 RFX6 RIMS2 SCN4A SHPK SLC2A2 STAT3 ZFP57 ZMPSTE24

Diseases (43) :ORPHA:79134 OMIM:618857 ORPHA:99885 ORPHA:552 ORPHA:99886 ORPHA:134 ORPHA:444077 OMIM:615954 OMIM:615986 OMIM:124000 ORPHA:465508 ORPHA:681 ORPHA:79102 OMIM:615453 OMIM:600001 OMIM:606176 OMIM:175700 OMIM:240600 ORPHA:2089 OMIM:222100 OMIM:600496 OMIM:601410 OMIM:618858 OMIM:616214 OMIM:613370 OMIM:246200 ORPHA:508 OMIM:262190 ORPHA:769 OMIM:618856 OMIM:610582 ORPHA:79474 OMIM:151660 OMIM:220111 OMIM:269880 OMIM:604367 OMIM:619737 OMIM:609069 OMIM:615710 OMIM:618970 ORPHA:440713 ORPHA:2088 OMIM:608612

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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