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:
Abnormality of the anterior pituitary (HP:0011747)

Parent Node:
Hyperpituitarism (HP:0010514)

..Starting node
..Increased circulating prolactin concentration (HP:0000870)

Term ID:

870

Name:

Increased circulating prolactin concentration

Synonym:

Hyperprolactinaemia; Hyperprolactinemia; Prolactin excess

Definition:

The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.

Comments:

Reference:

HP:0000870

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adrenocorticotropic hormone excess (HP:0011749)

Elevated circulating growth hormone concentration (HP:0000845)

Increased circulating gonadotropin level (HP:0000837)

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:0000870	HP:0000870	Increased circulating prolactin concentration	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040282 - Frequent	95
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	276
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	88
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040282 - Frequent	462
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	PRLR CL E G H	5618	9446	OMIM:615555	HYPERPROLACTINEMIA	.	2
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0000870	HP:0000870	Increased circulating prolactin concentration	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9

Genes (26) :AIP AKT1 BAP1 BRAF CDH23 CTNNB1 GNAS GPR101 MEN1 MSTO1 NF2 PDE11A PDGFB PIK3CA PMM2 POLR3A PRKAR1A PRLR SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 TRHR TSHB

Diseases (17) :OMIM:102200 ORPHA:99725 ORPHA:2495 ORPHA:54595 ORPHA:91347 ORPHA:562 OMIM:174800 OMIM:300942 OMIM:131100 ORPHA:502423 OMIM:617675 ORPHA:1359 ORPHA:79318 ORPHA:3455 OMIM:615555 ORPHA:99832 ORPHA:90674

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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