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 blood cation concentration (HP:0010929)

Parent Node:
Abnormal blood inorganic cation concentration (HP:0010927)

..Starting node
..Abnormal magnesium concentration (HP:0004921)

Term ID:

4921

Name:

Abnormal magnesium concentration

Synonym:

Abnormal magnesium metabolism; Abnormal Mg concentration; Abnormality of magnesium homeostasis

Definition:

An abnormality of magnesium ion homeostasis.

Comments:

Reference:

HP:0004921

Genes and Diseases:

Child Nodes:

........

Hypomagnesemia (HP:0002917)

........

Hypermagnesemia (HP:0002918)

Sister Nodes:

Abnormal circulating calcium concentration (HP:0004363)

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:0004921	HP:0004921	Abnormal magnesium concentration	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III		6
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2		4
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability		4
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia		272
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I		272
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement		42
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal		47
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation		47
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4		73
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal		17
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland		51
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia		16
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II		16
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome		121
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency		24
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1		52
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0004921	HP:0004921	Abnormal magnesium concentration	0	TRPM6 CL E G H	140803	17995	OMIM:602014	Hypomagnesemia 1, intestinal		85
HP:0004921	HP:0002918	Hypermagnesemia	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0004921	HP:0002918	Hypermagnesemia	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.	6
HP:0004921	HP:0002917	Hypomagnesemia	1	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.	4
HP:0004921	HP:0002917	Hypomagnesemia	1	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability	HP:0040282 - Frequent	4
HP:0004921	HP:0002917	Hypomagnesemia	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	53
HP:0004921	HP:0002917	Hypomagnesemia	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0004921	HP:0002917	Hypomagnesemia	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	272
HP:0004921	HP:0002917	Hypomagnesemia	1	CASR CL E G H	846	1514	OMIM:601198	Hypocalcemia, autosomal dominant 1		272
HP:0004921	HP:0002918	Hypermagnesemia	1	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.	272
HP:0004921	HP:0002917	Hypomagnesemia	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	9
HP:0004921	HP:0002917	Hypomagnesemia	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent	27
HP:0004921	HP:0002918	Hypermagnesemia	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	27
HP:0004921	HP:0002917	Hypomagnesemia	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent	27
HP:0004921	HP:0002918	Hypermagnesemia	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0004921	HP:0002917	Hypomagnesemia	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0004921	HP:0002917	Hypomagnesemia	1	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.	42
HP:0004921	HP:0002917	Hypomagnesemia	1	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal	.	47
HP:0004921	HP:0002917	Hypomagnesemia	1	CNNM2 CL E G H	54805	103	OMIM:616418	Hypomagnesemia, seizures, and mental retardation	.	47
HP:0004921	HP:0002917	Hypomagnesemia	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0004921	HP:0002917	Hypomagnesemia	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0004921	HP:0002917	Hypomagnesemia	1	EGF CL E G H	1950	3229	OMIM:611718	HYPOMAGNESEMIA 4, RENAL; HOMG4		73
HP:0004921	HP:0002917	Hypomagnesemia	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0004921	HP:0002917	Hypomagnesemia	1	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal	.	17
HP:0004921	HP:0002917	Hypomagnesemia	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0004921	HP:0002917	Hypomagnesemia	1	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040283 - Occasional	51
HP:0004921	HP:0002917	Hypomagnesemia	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	16
HP:0004921	HP:0002918	Hypermagnesemia	1	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II		16
HP:0004921	HP:0002917	Hypomagnesemia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0004921	HP:0002917	Hypomagnesemia	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	HP:0040283 - Occasional	51
HP:0004921	HP:0002917	Hypomagnesemia	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent	121
HP:0004921	HP:0002917	Hypomagnesemia	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0004921	HP:0002917	Hypomagnesemia	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0004921	HP:0002917	Hypomagnesemia	1	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	HP:0040283 - Occasional	24
HP:0004921	HP:0002917	Hypomagnesemia	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0004921	HP:0002917	Hypomagnesemia	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0004921	HP:0002917	Hypomagnesemia	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0004921	HP:0002918	Hypermagnesemia	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040283 - Occasional	145
HP:0004921	HP:0002917	Hypomagnesemia	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome	.	145
HP:0004921	HP:0002917	Hypomagnesemia	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent	145
HP:0004921	HP:0002917	Hypomagnesemia	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0004921	HP:0002917	Hypomagnesemia	1	TIAM1 CL E G H	7074	11805	OMIM:619908			2
HP:0004921	HP:0002917	Hypomagnesemia	1	TRPM6 CL E G H	140803	17995	OMIM:602014	Hypomagnesemia 1, intestinal	.	85

Genes (32) :ALDOB AP2S1 ATP1A1 BSND CACNA1S CASR CLCNKA CLCNKB CLDN10 CLDN16 CLDN19 CNNM2 CTNS DBH EGF FOXP3 FXYD2 GABRA3 GCM2 GNA11 GNB2 KCNJ1 KCNJ10 KCNJ18 PCBD1 PLVAP POLRMT SARS2 SLC12A3 TBCE TIAM1 TRPM6

Diseases (34) :ORPHA:469 OMIM:600740 OMIM:618314 ORPHA:564178 ORPHA:89938 ORPHA:79102 ORPHA:428 OMIM:601198 OMIM:145980 ORPHA:358 OMIM:617671 OMIM:248250 OMIM:248190 OMIM:613882 OMIM:616418 OMIM:219800 OMIM:223360 OMIM:611718 ORPHA:37042 OMIM:154020 ORPHA:2239 OMIM:145981 OMIM:619503 OMIM:241200 ORPHA:199343 OMIM:612780 ORPHA:1578 OMIM:618183 OMIM:619743 OMIM:613845 OMIM:263800 OMIM:244460 OMIM:619908 OMIM:602014

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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