Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 endocrine pancreas physiology (HP:0012093)

Parent Node:
Abnormality of the pancreatic islet cells (HP:0006476)

..Starting node
..Pancreatic islet-cell hyperplasia (HP:0004510)

Term ID:

4510

Name:

Pancreatic islet-cell hyperplasia

Synonym:

Hyperplastic islets of langerhans; Hypertrophic pancreatic islets; Islet of Langerhans hyperplasia; Islets of langerhans hypertrophy; Pancreatic islet-cell hypertrophy

Definition:

Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.

Comments:

Reference:

HP:0004510

Genes and Diseases:

Child Nodes:

........

Focal pancreatic islet hyperplasia (HP:0031223)

........

Diffuse pancreatic islet hyperplasia (HP:0031224)

Sister Nodes:

Beta-cell dysfunction (HP:0006279)

Pancreatic islet cell adenoma (HP:0008261)

Reduced pancreatic beta cells (HP:0006274)

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:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.	245
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		127
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2	.	127
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7		74
HP:0004510	HP:0004510	Pancreatic islet-cell hyperplasia	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0004510	HP:0031223	Focal pancreatic islet hyperplasia	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent	245
HP:0004510	HP:0031224	Diffuse pancreatic islet hyperplasia	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent	245
HP:0004510	HP:4000061	Pancreatic alpha-cell hyperplasia	1	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1
HP:0004510	HP:0031224	Diffuse pancreatic islet hyperplasia	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent	127
HP:0004510	HP:0031223	Focal pancreatic islet hyperplasia	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0004510	HP:0031224	Diffuse pancreatic islet hyperplasia	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0004510	HP:0031224	Diffuse pancreatic islet hyperplasia	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional	15

Genes (12) :ABCC8 DIS3L2 FAH GCGR GPC3 GPC4 HNF4A INSR KCNJ11 LBR SLC16A1 UCP2

Diseases (15) :ORPHA:276575 OMIM:256450 OMIM:267000 OMIM:276700 OMIM:619290 ORPHA:373 OMIM:312870 ORPHA:263455 OMIM:246200 ORPHA:276580 ORPHA:79644 OMIM:601820 OMIM:215140 OMIM:610021 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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