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:
Hypopituitarism (HP:0040075)

Parent Node:
Anterior hypopituitarism (HP:0000830)

..Starting node
..Abnormal prolactin level (HP:0040086)

Term ID:

40086

Name:

Abnormal prolactin level

Synonym:

Abnormal prolactin level

Definition:

Comments:

Reference:

HP:0040086

Genes and Diseases:

Child Nodes:

........

Prolactin deficiency (HP:0008202)

Sister Nodes:

Adrenocorticotropic hormone deficiency (HP:0011748)

Decreased response to growth hormone stimulation test (HP:0000824)

Gonadotropin deficiency (HP:0008213)

Panhypopituitarism (HP:0000871)

Pituitary hypothyroidism (HP:0008245)

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:0040086	HP:0040086	Abnormal prolactin level	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0040086	HP:0040086	Abnormal prolactin level	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0040086	HP:0040086	Abnormal prolactin level	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0040086	HP:0040086	Abnormal prolactin level	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0040086	HP:0040086	Abnormal prolactin level	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0040086	HP:0040086	Abnormal prolactin level	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0040086	HP:0040086	Abnormal prolactin level	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0040086	HP:0040086	Abnormal prolactin level	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0040086	HP:0040086	Abnormal prolactin level	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0040086	HP:0040086	Abnormal prolactin level	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0040086	HP:0040086	Abnormal prolactin level	0	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement		12
HP:0040086	HP:0040086	Abnormal prolactin level	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0040086	HP:0040086	Abnormal prolactin level	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0040086	HP:0040086	Abnormal prolactin level	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0040086	HP:0040086	Abnormal prolactin level	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0040086	HP:0040086	Abnormal prolactin level	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0040086	HP:0040086	Abnormal prolactin level	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0040086	HP:0040086	Abnormal prolactin level	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0040086	HP:0040086	Abnormal prolactin level	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0040086	HP:0040086	Abnormal prolactin level	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0040086	HP:0040086	Abnormal prolactin level	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0040086	HP:0040086	Abnormal prolactin level	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0040086	HP:0040086	Abnormal prolactin level	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0040086	HP:0040086	Abnormal prolactin level	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0040086	HP:0040086	Abnormal prolactin level	0	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2		54
HP:0040086	HP:0040086	Abnormal prolactin level	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome		1
HP:0040086	HP:0040086	Abnormal prolactin level	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0040086	HP:0040086	Abnormal prolactin level	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0040086	HP:0040086	Abnormal prolactin level	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0040086	HP:0040086	Abnormal prolactin level	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0040086	HP:0040086	Abnormal prolactin level	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0040086	HP:0040086	Abnormal prolactin level	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0040086	HP:0040086	Abnormal prolactin level	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0040086	HP:0040086	Abnormal prolactin level	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040284 - Very rare	101
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040284 - Very rare	101
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	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:0040086	HP:0008202	Reduced circulating prolactin concentration	1	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement		12
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	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:0040086	HP:0008202	Reduced circulating prolactin concentration	1	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:0040086	HP:0008202	Reduced circulating prolactin concentration	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	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:0040086	HP:0008202	Reduced circulating prolactin concentration	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	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:0040086	HP:0008202	Reduced circulating prolactin concentration	1	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.	54
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040283 - Occasional	1
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0040086	HP:0008202	Reduced circulating prolactin concentration	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2

Genes (26) :AKT1 BAP1 DBH FOXA2 GLI2 GLI3 GNAS HESX1 IGSF1 LHX3 LHX4 NF2 OTX2 PDGFB PIK3CA POU1F1 PROP1 RBM28 SMARCB1 SMARCE1 SMO SOX3 SUFU TERT TRAF7 TRHR

Diseases (13) :ORPHA:2495 OMIM:223360 ORPHA:95494 ORPHA:672 ORPHA:79443 ORPHA:79444 ORPHA:226307 OMIM:300888 OMIM:613038 ORPHA:90695 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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