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:
Abnormality of adrenal physiology (HP:0011733)

Parent Node:
Adrenal insufficiency (HP:0000846)

..Starting node
..Central adrenal insufficiency (HP:0011734)

Term ID:

11734

Name:

Central adrenal insufficiency

Synonym:

Secondary adrenal insufficiency

Definition:

A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.

Comments:

Reference:

HP:0011734

Genes and Diseases:

Child Nodes:

........

Adrenocorticotropin receptor defect (HP:0008259)

........

Adrenocorticotropin deficient adrenal insufficiency (HP:0011735)

........

Corticotropin-releasing hormone deficient adrenal insufficiency (HP:0011737)

........

Corticotropin-releasing hormone receptor defect (HP:0011738)

Sister Nodes:

Primary adrenal insufficiency (HP:0008207)

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:0011734	HP:0011734	Central adrenal insufficiency	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0011734	HP:0011734	Central adrenal insufficiency	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0011734	HP:0011734	Central adrenal insufficiency	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	276
HP:0011734	HP:0011734	Central adrenal insufficiency	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0011734	HP:0011734	Central adrenal insufficiency	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0011734	HP:0011734	Central adrenal insufficiency	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	88
HP:0011734	HP:0011734	Central adrenal insufficiency	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0011734	HP:0011734	Central adrenal insufficiency	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.	25
HP:0011734	HP:0011734	Central adrenal insufficiency	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	63
HP:0011734	HP:0011734	Central adrenal insufficiency	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0011734	HP:0011734	Central adrenal insufficiency	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0011734	HP:0011734	Central adrenal insufficiency	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0011734	HP:0011734	Central adrenal insufficiency	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0011734	HP:0011734	Central adrenal insufficiency	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0011734	HP:0011734	Central adrenal insufficiency	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0011734	HP:0011734	Central adrenal insufficiency	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0011734	HP:0011734	Central adrenal insufficiency	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0011734	HP:0011734	Central adrenal insufficiency	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	121
HP:0011734	HP:0011734	Central adrenal insufficiency	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0011734	HP:0011734	Central adrenal insufficiency	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0011734	HP:0011734	Central adrenal insufficiency	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040282 - Frequent	65
HP:0011734	HP:0011734	Central adrenal insufficiency	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040282 - Frequent	27
HP:0011734	HP:0011734	Central adrenal insufficiency	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome	.	1
HP:0011734	HP:0011734	Central adrenal insufficiency	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome		1
HP:0011734	HP:0011734	Central adrenal insufficiency	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	37
HP:0011734	HP:0011734	Central adrenal insufficiency	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0011734	HP:0011734	Central adrenal insufficiency	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0011734	HP:0011734	Central adrenal insufficiency	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare	13
HP:0011734	HP:0011734	Central adrenal insufficiency	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency		57
HP:0011734	HP:0011738	Corticotropin-releasing hormone receptor defect	1	CL E G H
HP:0011734	HP:0011737	Corticotropin-releasing hormone deficient adrenal insufficiency	1	CL E G H
HP:0011734	HP:0008259	Adrenocorticotropin receptor defect	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0011734	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0011734	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0011734	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0011734	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0011734	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0011734	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040282 - Frequent	1
HP:0011734	HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	1	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040280 - Obligate	57

Genes (18) :AAAS AIP BRAF CDH23 CTNNB1 GLI3 IARS2 MAGEL2 MEN1 NDN NFKB2 OCA2 PCSK1 POMC RBM28 SNRPN TBCK TBX19

Diseases (17) :OMIM:231550 ORPHA:2965 ORPHA:54595 ORPHA:91347 ORPHA:672 OMIM:616007 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:293978 OMIM:615577 ORPHA:71528 ORPHA:71526 OMIM:612079 ORPHA:157954 ORPHA:488632 ORPHA:199296

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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