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:
Abnormal glucose homeostasis (HP:0011014)

Grandparent Node:
obsolete Abnormal circulating insulin level (HP:0040215)

Parent Node:
Hyperinsulinemia (HP:0000842)

..Starting node
..Hyperinsulinemic hypoglycemia (HP:0000825)

Term ID:

825

Name:

Hyperinsulinemic hypoglycemia

Synonym:

Hyperinsulinaemic hypoglycaemia; Hyperinsulinemia hypoglycemia

Definition:

An increased concentration of insulin combined with a decreased concentration of glucose in the blood.

Comments:

Reference:

HP:0000825

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fasting hyperinsulinemia (HP:0008283)

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:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040281 - Very frequent	245
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.	245
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.	245
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional	245
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional	2
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional	75
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional	25
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.	237
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040281 - Very frequent	237
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional	237
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.	56
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	GLUD1 CL E G H	2746	4335	ORPHA:35878	Hyperinsulinism-hyperammonemia syndrome	HP:0040282 - Frequent	56
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	.	41
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040281 - Very frequent	161
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional	161
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional	138
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional	62
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	.	229
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	INSR CL E G H	3643	6091	ORPHA:263458	Hyperinsulinism due to INSR deficiency	HP:0040280 - Obligate	229
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040281 - Very frequent	127
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2	.	127
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional	127
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional	78
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus	.
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	462
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional	32
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional	55
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional	30
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7		74
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	HP:0040283 - Occasional	7
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040281 - Very frequent	15
HP:0000825	HP:0000825	Hyperinsulinemic hypoglycemia	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	7

Genes (25) :ABCC8 APPL1 BLK CDKN1B CEL FOCAD GCK GLUD1 HADH HNF1A HNF4A INS INSR KCNJ11 KLF11 MAFA MEN1 MPI NEUROD1 PAX4 PDX1 SLC16A1 TRMT10A UCP2 YY1

Diseases (26) :ORPHA:276575 OMIM:256450 OMIM:240800 ORPHA:552 ORPHA:276152 OMIM:619991 OMIM:602485 ORPHA:79299 OMIM:606762 ORPHA:35878 OMIM:609975 ORPHA:71212 ORPHA:324575 ORPHA:263455 OMIM:609968 ORPHA:263458 ORPHA:276580 ORPHA:79644 OMIM:601820 OMIM:147630 ORPHA:97279 OMIM:602579 ORPHA:79319 OMIM:610021 OMIM:616033 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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