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:
Reduced consciousness/confusion (HP:0004372)

Parent Node:
Coma (HP:0001259)

..Starting node
..Hypoglycemic coma (HP:0001325)

Term ID:

1325

Name:

Hypoglycemic coma

Synonym:

Coma caused by low blood sugar; Coma, hypoglycemic; Hypoglycaemic coma; Loss of consciousness due to hypoglycemia

Definition:

Comments:

Reference:

HP:0001325

Genes and Diseases:

Child Nodes:

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:0001325	HP:0001325	Hypoglycemic coma	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional	245
HP:0001325	HP:0001325	Hypoglycemic coma	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.	245
HP:0001325	HP:0001325	Hypoglycemic coma	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent	12
HP:0001325	HP:0001325	Hypoglycemic coma	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0001325	HP:0001325	Hypoglycemic coma	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0001325	HP:0001325	Hypoglycemic coma	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0001325	HP:0001325	Hypoglycemic coma	0	GCK CL E G H	2645	4195	OMIM:602485	Hyperinsulinemic hypoglycemia, familial, 3	.	237
HP:0001325	HP:0001325	Hypoglycemic coma	0	GLUD1 CL E G H	2746	4335	OMIM:606762	Hyperinsulinemic hypoglycemia, familial, 6	.	56
HP:0001325	HP:0001325	Hypoglycemic coma	0	HADH CL E G H	3033	4799	OMIM:609975	Hyperinsulinemic hypoglycemia, familial, 4	.	41
HP:0001325	HP:0001325	Hypoglycemic coma	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare	35
HP:0001325	HP:0001325	Hypoglycemic coma	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional	161
HP:0001325	HP:0001325	Hypoglycemic coma	0	INSR CL E G H	3643	6091	OMIM:609968	Hyperinsulinemic hypoglycemia, familial, 5	.	229
HP:0001325	HP:0001325	Hypoglycemic coma	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional	127
HP:0001325	HP:0001325	Hypoglycemic coma	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	94
HP:0001325	HP:0001325	Hypoglycemic coma	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	26
HP:0001325	HP:0001325	Hypoglycemic coma	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0001325	HP:0001325	Hypoglycemic coma	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	13
HP:0001325	HP:0001325	Hypoglycemic coma	0	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	HP:0040283 - Occasional	13
HP:0001325	HP:0001325	Hypoglycemic coma	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	45
HP:0001325	HP:0001325	Hypoglycemic coma	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare	85
HP:0001325	HP:0001325	Hypoglycemic coma	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional	15

Genes (19) :ABCC8 AKT2 ETFA ETFB ETFDH GCK GLUD1 HADH HMGCL HNF1A INSR KCNJ11 MC2R MRAP NFKB2 NNT STAR TXNRD2 UCP2

Diseases (15) :ORPHA:276575 OMIM:256450 ORPHA:293964 OMIM:231680 OMIM:602485 OMIM:606762 OMIM:609975 ORPHA:20 ORPHA:324575 OMIM:609968 ORPHA:276580 ORPHA:361 ORPHA:293978 OMIM:614736 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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