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 blood monovalent inorganic cation concentration (HP:0010930)

Parent Node:
Abnormal blood potassium concentration (HP:0011042)

..Starting node
..Hyperkalemia (HP:0002153)

Term ID:

2153

Name:

Hyperkalemia

Synonym:

Elevated serum potassium levels

Definition:

An abnormally increased potassium concentration in the blood.

Comments:

Reference:

HP:0002153

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypokalemia (HP:0002900)

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:0002153	HP:0002153	Hyperkalemia	0	ABCB6 CL E G H	10058	47	ORPHA:90044	Familial pseudohyperkalemia	HP:0040281 - Very frequent	20
HP:0002153	HP:0002153	Hyperkalemia	0	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0002153	HP:0002153	Hyperkalemia	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040283 - Occasional	50
HP:0002153	HP:0002153	Hyperkalemia	0	CA12 CL E G H	771	1371	OMIM:143860	Hyperchlorhidrosis, isolated	.	4
HP:0002153	HP:0002153	Hyperkalemia	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	247
HP:0002153	HP:0002153	Hyperkalemia	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare	247
HP:0002153	HP:0002153	Hyperkalemia	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0002153	HP:0002153	Hyperkalemia	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0002153	HP:0002153	Hyperkalemia	0	CUL3 CL E G H	8452	2553	OMIM:614496	Pseudohypoaldosteronism, type IIE	.	92
HP:0002153	HP:0002153	Hyperkalemia	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0002153	HP:0002153	Hyperkalemia	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0002153	HP:0002153	Hyperkalemia	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0002153	HP:0002153	Hyperkalemia	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040281 - Very frequent	73
HP:0002153	HP:0002153	Hyperkalemia	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0002153	HP:0002153	Hyperkalemia	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare
HP:0002153	HP:0002153	Hyperkalemia	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0002153	HP:0002153	Hyperkalemia	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.	106
HP:0002153	HP:0002153	Hyperkalemia	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare	10
HP:0002153	HP:0002153	Hyperkalemia	0	KLHL3 CL E G H	26249	6354	OMIM:614495	Pseudohypoaldosteronism, type IID	.	118
HP:0002153	HP:0002153	Hyperkalemia	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0002153	HP:0002153	Hyperkalemia	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.	95
HP:0002153	HP:0002153	Hyperkalemia	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0002153	HP:0002153	Hyperkalemia	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0002153	HP:0002153	Hyperkalemia	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0002153	HP:0002153	Hyperkalemia	0	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	HP:0040283 - Occasional	13
HP:0002153	HP:0002153	Hyperkalemia	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.	109
HP:0002153	HP:0002153	Hyperkalemia	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral		39
HP:0002153	HP:0002153	Hyperkalemia	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral		3
HP:0002153	HP:0002153	Hyperkalemia	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0002153	HP:0002153	Hyperkalemia	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	1200
HP:0002153	HP:0002153	Hyperkalemia	0	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1	.	1200
HP:0002153	HP:0002153	Hyperkalemia	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0002153	HP:0002153	Hyperkalemia	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040282 - Frequent	263
HP:0002153	HP:0002153	Hyperkalemia	0	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis	.	263
HP:0002153	HP:0002153	Hyperkalemia	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	67
HP:0002153	HP:0002153	Hyperkalemia	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0002153	HP:0002153	Hyperkalemia	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	61
HP:0002153	HP:0002153	Hyperkalemia	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	57
HP:0002153	HP:0002153	Hyperkalemia	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.	255
HP:0002153	HP:0002153	Hyperkalemia	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.	1
HP:0002153	HP:0002153	Hyperkalemia	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0002153	HP:0002153	Hyperkalemia	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85
HP:0002153	HP:0002153	Hyperkalemia	0	WNK1 CL E G H	65125	14540	OMIM:614492	Pseudohypoaldosteronism, type IIC	.	199
HP:0002153	HP:0002153	Hyperkalemia	0	WNK4 CL E G H	65266	14544	OMIM:614491	Pseudohypoaldosteronism, type IIB	.	71

Genes (33) :ABCB6 ALDOA CA12 CACNA1S COX1 COX3 CUL3 CYP11A1 CYP11B2 GABRA3 HSD3B2 INVS KCNJ18 KLHL3 LPIN1 MC2R MRAP NNT NR3C2 PAX2 PBX1 RYR1 SAMD9 SCN4A SCNN1A SCNN1B SCNN1G SLC2A1 SLC30A9 STAR TXNRD2 WNK1 WNK4

Diseases (32) :ORPHA:90044 OMIM:609153 ORPHA:57 OMIM:143860 ORPHA:423 ORPHA:79102 ORPHA:99845 OMIM:614496 ORPHA:168558 ORPHA:289548 OMIM:203400 ORPHA:556030 OMIM:610600 ORPHA:90791 OMIM:602088 OMIM:614495 OMIM:268200 ORPHA:361 OMIM:614736 OMIM:177735 ORPHA:97362 ORPHA:466650 OMIM:145600 OMIM:617053 ORPHA:682 OMIM:170500 ORPHA:171876 OMIM:264350 OMIM:608885 OMIM:617595 OMIM:614492 OMIM:614491

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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