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:
Anterior hypopituitarism (HP:0000830)

Parent Node:
Abnormal prolactin level (HP:0040086)

..Starting node
..Reduced circulating prolactin concentration (HP:0008202)

Term ID:

8202

Name:

Reduced circulating prolactin concentration

Synonym:

Prolactin deficiency

Definition:

A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.

Comments:

Reference:

HP:0008202

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:0008202	HP:0008202	Reduced circulating prolactin concentration	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040284 - Very rare	101
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040284 - Very rare	101
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement		12
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.	54
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040283 - Occasional	1
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0008202	HP:0008202	Reduced circulating prolactin concentration	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2

Genes (21) :AKT1 BAP1 DBH GNAS HESX1 IGSF1 LHX3 LHX4 NF2 PDGFB PIK3CA POU1F1 PROP1 RBM28 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 TRHR

Diseases (10) :ORPHA:2495 OMIM:223360 ORPHA:79443 ORPHA:79444 ORPHA:226307 OMIM:300888 OMIM:613038 OMIM:262600 ORPHA:157954 ORPHA:99832

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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