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:
Hypothyroidism (HP:0000821)

Parent Node:
Anterior hypopituitarism (HP:0000830)

Parent Node:
Central hypothyroidism (HP:0011787)

..Starting node
..Pituitary hypothyroidism (HP:0008245)

Term ID:

8245

Name:

Pituitary hypothyroidism

Synonym:

Low thyroid gland function due to abnormal pituitary gland; Secondary hypothyroidism; Thyroid stimulating hormone deficiency; Thyrotropin deficiency; TSH deficient hypothyroidism

Definition:

A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.

Comments:

Reference:

HP:0008245

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypothalamic hypothyroidism (HP:0008237)

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:0008245	HP:0008245	Pituitary hypothyroidism	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	276
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	88
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	21
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.	46
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	51
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent	51
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	43
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional	65
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional	27
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	36
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	54
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040283 - Occasional	1
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0008245	HP:0008245	Pituitary hypothyroidism	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040281 - Very frequent	9

Genes (37) :AIP AKT1 ARNT2 BAP1 BRAF CDH23 CTNNB1 FOXA2 GLI2 GLI3 HESX1 HID1 LEP LEPR LHX3 LHX4 MEN1 NF2 OTX2 PCSK1 PDGFB PIK3CA POMC POU1F1 POU3F4 PROP1 RBM28 SMARCB1 SMARCE1 SMO SOX3 SUFU TERT TMEM67 TRAF7 TRHR TSHB

Diseases (20) :ORPHA:2965 ORPHA:2495 OMIM:615926 ORPHA:54595 ORPHA:95494 ORPHA:672 ORPHA:226307 OMIM:619983 ORPHA:66628 OMIM:614963 ORPHA:179494 ORPHA:231720 ORPHA:71528 ORPHA:71526 ORPHA:1435 ORPHA:90695 ORPHA:157954 OMIM:602152 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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