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 the anterior pituitary (HP:0011747)

Parent Node:
Hyperpituitarism (HP:0010514)

..Starting node
..Elevated circulating growth hormone concentration (HP:0000845)

Term ID:

845

Name:

Elevated circulating growth hormone concentration

Synonym:

Elevated circulating somatotropin concentration; Growth hormone excess; Somatotropin excess

Definition:

Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.

Comments:

Reference:

HP:0000845

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adrenocorticotropic hormone excess (HP:0011749)

Increased circulating gonadotropin level (HP:0000837)

Increased circulating prolactin concentration (HP:0000870)

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:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.	95
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	95
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	636
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional	636
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV	.	102
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome		5
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	GPR101 CL E G H	83550	14963	OMIM:300943	PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA2		5
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	55
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency		91
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional	462
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent	13
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent	134
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1	.	134
HP:0000845	HP:0000845	Elevated circulating growth hormone concentration	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	13

Genes (16) :AIP CDH23 CDKN1A CDKN1B CDKN2B CDKN2C GNAS GPR101 HPGD IGF1 KCNJ11 MEN1 PDE11A PMM2 PRKAR1A SLCO2A1

Diseases (19) :ORPHA:963 OMIM:102200 ORPHA:99725 ORPHA:2965 ORPHA:91347 ORPHA:652 ORPHA:276152 OMIM:610755 ORPHA:562 OMIM:174800 OMIM:300942 OMIM:300943 ORPHA:2796 OMIM:608747 ORPHA:79644 OMIM:131100 ORPHA:1359 ORPHA:79318 OMIM:160980

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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