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:
Abnormality of brain morphology (HP:0012443)

Grandparent Node:
Abnormality of the hypothalamus-pituitary axis (HP:0000864)

Parent Node:
Abnormality of the pituitary gland (HP:0012503)

..Starting node
..Abnormal thyroid-stimulating hormone level (HP:0031097)

Term ID:

31097

Name:

Abnormal thyroid-stimulating hormone level

Synonym:

Abnormal circulating thyrotropin concentration; Abnormal thyrotropin level; Abnormal TSH level

Definition:

Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.

Comments:

Reference:

HP:0031097

Genes and Diseases:

Child Nodes:

........

Increased thyroid-stimulating hormone level (HP:0002925)

........

Decreased thyroid-stimulating hormone level (HP:0031098)

Sister Nodes:

Abnormal size of pituitary gland (HP:0012504)

Abnormality of the anterior pituitary (HP:0011747)

Abnormality of the posterior pituitary (HP:0011751)

Prolactinoma (HP:0040278)

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:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome		87
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone 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:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement		12
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone 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:0031097	HP:0031097	Abnormal thyroid-stimulating hormone 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:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type		28
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone 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:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone 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:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal		3
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis		59
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis		155
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	THRB CL E G H	7068	11799	OMIM:145650	Thyroid hormone resistance, selective pituitary		161
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis		92
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL		97
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0031097	HP:0031097	Abnormal thyroid-stimulating hormone level	0	TSHR CL E G H	7253	12373	OMIM:275200	Hypothyroidism, congenital, nongoitrous, 1		97
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040281 - Very frequent	636
HP:0031097	HP:0031098	Decreased thyroid-stimulating hormone level	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	DCAF17 CL E G H	80067	25784	OMIM:241080	Woodhouse-Sakati syndrome	.	87
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	121
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040282 - Frequent	121
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	11
HP:0031097	HP:0031098	Decreased thyroid-stimulating hormone level	1	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:0031097	HP:0033075	Inappropriately normal thyroid-stimulating hormone level	1	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement		12
HP:0031097	HP:0033075	Inappropriately normal thyroid-stimulating hormone level	1	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	130
HP:0031097	HP:0031098	Decreased thyroid-stimulating hormone level	1	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0031097	HP:0031098	Decreased thyroid-stimulating hormone level	1	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:0031097	HP:0031098	Decreased thyroid-stimulating hormone level	1	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:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress		51
HP:0031097	HP:0031098	Decreased thyroid-stimulating hormone level	1	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.	28
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0031097	HP:0031098	Decreased thyroid-stimulating hormone level	1	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:0031097	HP:0031098	Decreased thyroid-stimulating hormone level	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0031097	HP:0031098	Decreased thyroid-stimulating hormone level	1	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:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency		3
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	SECISBP2 CL E G H	79048	30972	OMIM:609698	Thyroid hormone metabolism, abnormal	.	3
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	59
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0031097	HP:0033075	Inappropriately normal thyroid-stimulating hormone level	1	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	155
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive		161
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	THRB CL E G H	7068	11799	OMIM:145650	Thyroid hormone resistance, selective pituitary	.	161
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040281 - Very frequent	92
HP:0031097	HP:0031098	Decreased thyroid-stimulating hormone level	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040281 - Very frequent	9
HP:0031097	HP:0031098	Decreased thyroid-stimulating hormone level	1	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL		97
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040281 - Very frequent	97
HP:0031097	HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	1	TSHR CL E G H	7253	12373	OMIM:275200	Hypothyroidism, congenital, nongoitrous, 1	.	97

Genes (33) :ALMS1 CDH23 CPE DCAF17 DUOX2 DUOXA2 HESX1 IGSF1 IRS4 IYD KCNJ18 LHX3 LHX4 NKX2-1 OTX2 PAX8 PDGFRB PMM2 POU1F1 PRKAR1A PROP1 PSMB8 SECISBP2 SLC16A2 SLC35A2 SLC5A5 SMARCAL1 TBL1X TG THRB TPO TSHB TSHR

Diseases (31) :ORPHA:64 ORPHA:91347 OMIM:619326 OMIM:241080 ORPHA:95716 ORPHA:226316 ORPHA:226307 OMIM:300888 OMIM:301035 OMIM:613239 ORPHA:209905 OMIM:610978 OMIM:613986 OMIM:218700 OMIM:601812 ORPHA:79318 OMIM:613038 OMIM:101800 OMIM:256040 ORPHA:171706 OMIM:609698 OMIM:300523 ORPHA:356961 OMIM:242900 OMIM:301033 OMIM:274300 OMIM:145650 ORPHA:90674 OMIM:603373 ORPHA:90673 OMIM:275200

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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