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 circulating calcium concentration (HP:0004363)

Parent Node:
obsolete Abnormal concentration of calcium in blood (HP:0040077)

..Starting node
..Hypercalcemia (HP:0003072)

Term ID:

3072

Name:

Hypercalcemia

Synonym:

High blood calcium levels; Hypercalcaemia; Increased calcium in blood

Definition:

An abnormally increased calcium concentration in the blood.

Comments:

Reference:

HP:0003072

Genes and Diseases:

Child Nodes:

........

Infantile hypercalcemia (HP:0008250)

Sister Nodes:

Hypocalcemia (HP:0002901)

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:0003072	HP:0003072	Hypercalcemia	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0003072	HP:0003072	Hypercalcemia	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.	6
HP:0003072	HP:0003072	Hypercalcemia	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0003072	HP:0003072	Hypercalcemia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0003072	HP:0003072	Hypercalcemia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0003072	HP:0003072	Hypercalcemia	0	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.	272
HP:0003072	HP:0003072	Hypercalcemia	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040283 - Occasional	1
HP:0003072	HP:0003072	Hypercalcemia	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0003072	HP:0003072	Hypercalcemia	0	CDC73 CL E G H	79577	16783	OMIM:145000	Hyperparathyroidism 1	.	169
HP:0003072	HP:0003072	Hypercalcemia	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0003072	HP:0003072	Hypercalcemia	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040280 - Obligate	169
HP:0003072	HP:0003072	Hypercalcemia	0	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma	.	169
HP:0003072	HP:0003072	Hypercalcemia	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040280 - Obligate	169
HP:0003072	HP:0003072	Hypercalcemia	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	2
HP:0003072	HP:0003072	Hypercalcemia	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	102
HP:0003072	HP:0003072	Hypercalcemia	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040281 - Very frequent	102
HP:0003072	HP:0003072	Hypercalcemia	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies	.	114
HP:0003072	HP:0003072	Hypercalcemia	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	1
HP:0003072	HP:0003072	Hypercalcemia	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1		73
HP:0003072	HP:0003072	Hypercalcemia	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0003072	HP:0003072	Hypercalcemia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0003072	HP:0003072	Hypercalcemia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0003072	HP:0003072	Hypercalcemia	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0003072	HP:0003072	Hypercalcemia	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0003072	HP:0003072	Hypercalcemia	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0003072	HP:0003072	Hypercalcemia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0003072	HP:0003072	Hypercalcemia	0	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4	.	51
HP:0003072	HP:0003072	Hypercalcemia	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II	.	16
HP:0003072	HP:0003072	Hypercalcemia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003072	HP:0003072	Hypercalcemia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003072	HP:0003072	Hypercalcemia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003072	HP:0003072	Hypercalcemia	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0003072	HP:0003072	Hypercalcemia	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0003072	HP:0003072	Hypercalcemia	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0003072	HP:0003072	Hypercalcemia	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0003072	HP:0003072	Hypercalcemia	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040283 - Occasional	35
HP:0003072	HP:0003072	Hypercalcemia	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0003072	HP:0003072	Hypercalcemia	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0003072	HP:0003072	Hypercalcemia	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0003072	HP:0003072	Hypercalcemia	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0003072	HP:0003072	Hypercalcemia	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0003072	HP:0003072	Hypercalcemia	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	462
HP:0003072	HP:0003072	Hypercalcemia	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003072	HP:0003072	Hypercalcemia	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0003072	HP:0003072	Hypercalcemia	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0003072	HP:0003072	Hypercalcemia	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0003072	HP:0003072	Hypercalcemia	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0003072	HP:0003072	Hypercalcemia	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional	144
HP:0003072	HP:0003072	Hypercalcemia	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0003072	HP:0003072	Hypercalcemia	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional	28
HP:0003072	HP:0003072	Hypercalcemia	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent	12
HP:0003072	HP:0003072	Hypercalcemia	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040282 - Frequent
HP:0003072	HP:0003072	Hypercalcemia	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0003072	HP:0003072	Hypercalcemia	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0003072	HP:0003072	Hypercalcemia	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0003072	HP:0003072	Hypercalcemia	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0003072	HP:0003072	Hypercalcemia	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0003072	HP:0003072	Hypercalcemia	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0003072	HP:0003072	Hypercalcemia	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0003072	HP:0003072	Hypercalcemia	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0003072	HP:0003072	Hypercalcemia	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0003072	HP:0003072	Hypercalcemia	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0003072	HP:0003072	Hypercalcemia	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0003072	HP:0003072	Hypercalcemia	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0003072	HP:0003072	Hypercalcemia	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0003072	HP:0003072	Hypercalcemia	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0003072	HP:0003072	Hypercalcemia	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0003072	HP:0003072	Hypercalcemia	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0003072	HP:0003072	Hypercalcemia	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0003072	HP:0003072	Hypercalcemia	0	SLC34A1 CL E G H	6569	11019	OMIM:616963	HYPERCALCEMIA, INFANTILE, 2; HCINF2		47
HP:0003072	HP:0003072	Hypercalcemia	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040283 - Occasional	74
HP:0003072	HP:0003072	Hypercalcemia	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0003072	HP:0003072	Hypercalcemia	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0003072	HP:0003072	Hypercalcemia	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0003072	Hypercalcemia	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0003072	HP:0003072	Hypercalcemia	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0003072	HP:0003072	Hypercalcemia	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0003072	HP:0003072	Hypercalcemia	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0003072	HP:0003072	Hypercalcemia	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0003072	HP:0003072	Hypercalcemia	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0003072	HP:0008250	Infantile hypercalcemia	1	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0003072	HP:0008250	Infantile hypercalcemia	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent	169
HP:0003072	HP:0008250	Infantile hypercalcemia	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent	169
HP:0003072	HP:0008250	Infantile hypercalcemia	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0003072	HP:0008250	Infantile hypercalcemia	1	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0003072	HP:0008250	Infantile hypercalcemia	1	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462

Genes (68) :ALPL AP2S1 APC2 BAZ1B BCL7B BTNL2 BUD23 CASR CCND1 CDC73 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CLIP2 CYP24A1 DLST DNAJC30 DNMT3A EIF4H ELN EPAS1 FH FKBP6 GCM2 GNA11 GTF2I GTF2IRD1 GTF2IRD2 HLA-DRB1 KIF1B KL LDHA LIMK1 MAX MDH2 MEN1 METTL27 MLXIPL NCF1 NF1 NOTCH3 NSD1 PDGFRB PIGT PIK3C2A PTH1R RET RFC2 SDHA SDHAF2 SDHB SDHC SDHD SETD2 SLC12A1 SLC25A11 SLC34A1 SLC5A1 STX1A TBL2 TMEM127 TMEM270 TNFRSF11A TRIO VHL VPS37D

Diseases (37) :OMIM:241500 OMIM:600740 ORPHA:821 ORPHA:904 ORPHA:797 OMIM:239200 OMIM:145980 ORPHA:29073 ORPHA:99879 OMIM:145000 OMIM:145001 ORPHA:99880 OMIM:608266 ORPHA:143 ORPHA:652 ORPHA:276152 OMIM:614732 OMIM:143880 ORPHA:29072 ORPHA:276621 OMIM:194050 OMIM:617343 OMIM:145981 OMIM:171300 OMIM:617994 ORPHA:284426 OMIM:131100 ORPHA:2591 ORPHA:369837 ORPHA:557003 OMIM:618440 OMIM:156400 OMIM:601678 OMIM:616963 ORPHA:35710 OMIM:602080 ORPHA:476126

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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