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 pancreas physiology (HP:0012091)

Grandparent Node:
Abnormality of the endocrine system (HP:0000818)

Parent Node:
Abnormality of endocrine pancreas physiology (HP:0012093)

..Starting node
..Abnormality of the pancreatic islet cells (HP:0006476)

Term ID:

6476

Name:

Abnormality of the pancreatic islet cells

Synonym:

Definition:

An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.

Comments:

Reference:

HP:0006476

Genes and Diseases:

Child Nodes:

........

Pancreatic islet-cell hyperplasia (HP:0004510)

................... HP:0031223 Focal pancreatic islet hyperplasia
................... HP:0031224 Diffuse pancreatic islet hyperplasia

........

Reduced pancreatic beta cells (HP:0006274)

........

Beta-cell dysfunction (HP:0006279)

........

Pancreatic islet cell adenoma (HP:0008261)

................... HP:0008194 Multiple pancreatic beta-cell adenomas
................... HP:0012197 Insulinoma

Sister Nodes:

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:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1		245
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		245
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		237
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency		138
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		62
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		127
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2		127
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		127
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	462
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone		55
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		30
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7		74
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		110
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0006476	HP:0006476	Abnormality of the pancreatic islet cells	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	7
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency		245
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.	245
HP:0006476	HP:0006274	Reduced pancreatic beta cells	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0006476	HP:0008261	Pancreatic islet cell adenoma	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0006476	HP:0008261	Pancreatic islet cell adenoma	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0006476	HP:0008261	Pancreatic islet cell adenoma	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0006476	HP:0008261	Pancreatic islet cell adenoma	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0006476	HP:0008261	Pancreatic islet cell adenoma	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0006476	HP:0008261	Pancreatic islet cell adenoma	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0006476	HP:0006274	Reduced pancreatic beta cells	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1
HP:0006476	HP:0006274	Reduced pancreatic beta cells	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	237
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0006476	HP:0006274	Reduced pancreatic beta cells	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	62
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency		127
HP:0006476	HP:0008261	Pancreatic islet cell adenoma	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2	.	127
HP:0006476	HP:0006274	Reduced pancreatic beta cells	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0006476	HP:0008261	Pancreatic islet cell adenoma	1	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0006476	HP:0008261	Pancreatic islet cell adenoma	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0006476	HP:0008261	Pancreatic islet cell adenoma	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0006476	HP:0006279	Beta-cell dysfunction	1	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone	.	55
HP:0006476	HP:0006274	Reduced pancreatic beta cells	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7		74
HP:0006476	HP:0006274	Reduced pancreatic beta cells	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	110
HP:0006476	HP:0004510	Pancreatic islet-cell hyperplasia	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency		15
HP:0006476	HP:0008261	Pancreatic islet cell adenoma	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0006476	HP:0031223	Focal pancreatic islet hyperplasia	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent	245
HP:0006476	HP:0031224	Diffuse pancreatic islet hyperplasia	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent	245
HP:0006476	HP:0012197	Insulinoma	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0006476	HP:0012197	Insulinoma	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0006476	HP:0012197	Insulinoma	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0006476	HP:0012197	Insulinoma	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0006476	HP:0012197	Insulinoma	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0006476	HP:4000061	Pancreatic alpha-cell hyperplasia	2	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1
HP:0006476	HP:0031224	Diffuse pancreatic islet hyperplasia	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent	127
HP:0006476	HP:0031223	Focal pancreatic islet hyperplasia	2	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0006476	HP:0008194	Multiple pancreatic beta-cell adenomas	2	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0006476	HP:0031224	Diffuse pancreatic islet hyperplasia	2	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0006476	HP:0012197	Insulinoma	2	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0006476	HP:0008194	Multiple pancreatic beta-cell adenomas	2	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus	.
HP:0006476	HP:0012197	Insulinoma	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0006476	HP:0012197	Insulinoma	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0006476	HP:0031224	Diffuse pancreatic islet hyperplasia	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional	15

Genes (27) :ABCC8 CCND1 CDKN1A CDKN1B CDKN2B CDKN2C DIS3L2 EIF2AK3 FAH GCGR GCK GPC3 GPC4 HNF4A INS INSR KCNJ11 LBR MAFA MEN1 PAX4 PDX1 SLC16A1 STAT3 UCP2 VHL YY1

Diseases (24) :ORPHA:276575 OMIM:256450 ORPHA:99885 ORPHA:892 ORPHA:652 ORPHA:276152 OMIM:267000 OMIM:226980 OMIM:276700 OMIM:619290 ORPHA:373 OMIM:312870 ORPHA:263455 OMIM:246200 ORPHA:276580 ORPHA:79644 OMIM:601820 OMIM:215140 OMIM:147630 ORPHA:97279 OMIM:131100 OMIM:612227 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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