Pituitary Hypoplasia malady

MalaCards: Pituitary Hypoplasia, also known as pituitary gland hypoplasia, is related to septooptic dysplasia and anophthalmia. An important gene associated with Pituitary Hypoplasia is SOX3 (SRY (sex determining region Y)-box 3), and among its related pathways are Transcription factors in neurogenesis and Selected targets of ESR1. The compounds ptx1 and alendronate have been mentioned in the context of this disorder. Affiliated tissues include t cells and pituitary, and related mouse phenotypes are skeleton and respiratory system.

Aliases & Descriptions:

pituitary hypoplasia 6 8 pituitary gland hypoplasia 43

Diseases related to pituitary hypoplasia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 141)

id	Related Disease	Score	Top Affiliating Genes
1	septooptic dysplasia	30.2	HESX1, SOD1
2	anophthalmia	25.8	POU1F1, SOX3, SOD1, PRL, HESX1, OTX2
3	panhypopituitarism	25.1	GH1, LHX4, LHX3, HESX1, PRL, POU1F1
4	pituitary hormone deficiency	24.5	POU1F1, POMC, SOX3, SOD1, PROP1, PRL
5	combined pituitary hormone deficiency	24.5	HESX1, OTX2, GH1, LHX4, LHX3, PBX1
6	hypopituitarism	23.2	SOX3, SOD1, PROP1, PRL, HESX1, OTX2
7	neuronitis	21.2	OTX2, PITX1, PRL, SOD1, SOX3, POMC
8	neonatal thyrotoxicosis	13.4	PROP1, LHX3
9	growth hormone deficient dwarfism	13.3	GH1, POU1F1
10	kallmann syndrome	13.3	PROP1, HESX1, LHX3
11	isolated growth hormone deficiency, type ib	13.2	GH1, GHRHR
12	pilomatrixoma	13.2	BMP4, BMP2
13	pancreatic islet cell tumors	13.1	POU1F1, GHRHR, GHRH
14	mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes	13.0	GHRH, GH1
15	growth disorders	13.0	GH1, GHRHR, POU1F1
16	adrenocorticotropic hormone deficiency	12.9	POMC, GHRH
17	progressive osseous heteroplasia	12.9	BMP2, BMP4
18	avascular necrosis of femoral head	12.9	SOD1, BMP2
19	gonadal disease	12.8	POMC, GH1
20	cushing's syndrome	12.8	POMC, GH1
21	growth retardation with deafness and mental retardation due to igf1 deficiency	12.7	PROP1, GHRH, GH1
22	tsh producing pituitary tumor	12.7	GH1, PRL
23	chromophobe adenoma	12.7	GH1, PRL
24	mccune albright syndrome	12.7	PRL, GH1
25	pituitary gland disease	12.7	PRL, GH1
26	borjeson-forssman-lehmann syndrome	12.7	LHX3, LHX4, HESX1, PROP1, SOX3, POU1F1
27	hypothalamic disease	12.7	PRL, GH1
28	pseudohypoparathyroidism type ia	12.6	PRL, GH1
29	hypoadrenalism	12.6	POMC, GH1
30	wermer syndrome	12.5	PRL, GHRHR, GHRH
31	prolactin producing pituitary tumor	12.5	POMC, PRL
32	empty sella syndrome	12.5	POMC, PRL
33	coloboma	12.5	BMP4, OTX2, SOD1
34	lymphocytic hypophysitis	12.5	POMC, PRL
35	nelson syndrome	12.4	POMC, PRL
36	growth hormone secreting pituitary adenoma	12.4	PRL, GHRHR, GH1
37	melancholia	12.4	POMC, PRL
38	fetal adenoma	12.4	GH1, GHRH, PRL
39	sheehan syndrome	12.4	POMC, PRL
40	neurogenic diabetes insipidus	12.4	POMC, PRL
41	pseudohypoparathyroidism	12.3	PRL, GHRH, GH1
42	fibrous dysplasia	12.3	GH1, GHRH, PRL
43	isolated acth deficiency	12.3	POMC, PRL, PITX1
44	endogenous depression	12.3	POMC, PRL
45	pituitary carcinoma	12.2	POMC, PRL, GHRH
46	tetrahydrobiopterin deficiency	12.2	SOD1, PRL, GH1
47	hypogonadotropism	12.2	PROP1, PRL, HESX1, GHRH, LHX3
48	klinefelter's syndrome	12.1	PRL, PROP1, POMC
49	somatotrophinoma	12.1	PRL, GHRHR, GHRH, GH1
50	pituitary-dependent cushing's disease	12.1	GH1, PRL, POMC

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to pituitary hypoplasia:

²²

MGI Mouse Phenotypes related to pituitary hypoplasia:

²⁵ (show all 13)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	skeleton phenotype	MP:0005390	8.6	OTX2, GHRHR, PBX1, BMP4, BMP2
2	respiratory system phenotype	MP:0005388	8.0	PROP1, HESX1, OTX2, PTPRS, LHX4, PBX1
3	hearing/vestibular/ear phenotype	MP:0005377	7.8	SOD1, HESX1, PITX1, OTX2, LHX3, PBX1
4	craniofacial phenotype	MP:0005382	7.6	POU1F1, SOX3, HESX1, PITX1, OTX2, PTPRS
5	cardiovascular system phenotype	MP:0005385	7.4	SOD1, PITX1, OTX2, ESX1, PBX1, BMP4
6	embryogenesis phenotype	MP:0005380	7.2	PRL, HESX1, PITX1, OTX2, ESX1, PBX1
7	behavior/neurological phenotype	MP:0005386	6.5	POMC, SOX3, SOD1, PROP1, PRL, OTX2
8	mortality/aging	MP:0010768	6.1	HESX1, PROP1, SOD1, SOX3, POMC, POU1F1
9	growth/size phenotype	MP:0005378	5.7	OTX2, PITX1, PROP1, SOX3, POMC, POU1F1
10	reproductive system phenotype	MP:0005389	5.3	OTX2, PRL, PROP1, SOD1, SOX3, POU1F1
11	homeostasis/metabolism phenotype	MP:0005376	4.6	OTX2, PRL, PROP1, SOD1, SOX3, POMC
12	endocrine/exocrine gland phenotype	MP:0005379	4.6	BMP4, POU1F1, POMC, SOX3, SOD1, PROP1
13	nervous system phenotype	MP:0003631	4.2	PITX1, HESX1, PRL, PROP1, SOD1, SOX3

Articles related to pituitary hypoplasia:

(show all 11)

id	Title	Authors	Year	Affiliating Genes
1	Mechanisms underlying pituitary hypoplasia and failed cell specification in Lhx3-deficient mice. (18037398)	Ellsworth B.S.... Camper S.A.	2008	LHX3
2	A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. (17527005)	Tajima T.... Fujieda K.	2007	PBX1, GH1, LHX4
3	Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. (16835935)	Nolen L.D.... Jamieson R.V.	2006	OTX2
4	Worster-Drought syndrome (congenital bilateral perisylvian syndrome) with posterior pituitary ectopia, pituitary hypoplasia, empty sella and panhypopituitarism: a patient report. (16759040)	BaA9 F.... GA1nAPz H.	2006	POMC
5	Lack of aberrations of the BMP4, BMP2, and PTX1 genes in a patient with pituitary hypoplasia, os odontoideum, renal dysplasia, and right leg anomalies. (12165803)	Goto M.... Hayashi Y.	2002	BMP4, BMP2
6	Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. (11136712)	Thomas P.Q.... Beddington R.S.	2001	SOD1, HESX1
7	Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. (10792348)	Frisch H.... PfAoffle R.	2000	POU1F1
8	Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. (10782778)	Murray R.A.... Baumann G.	2000	GHRHR
9	Neuronal defects and posterior pituitary hypoplasia in mice lacking the receptor tyrosine phosphatase PTPsigma. (10080192)	Wallace M.J.... Rotin D.	1999	PTPRS
10	Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation. (9627600)	Ward L.... Van Vliet G.	1998	PRL, POU1F1
11	Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. (1509263)	Pfaeffle R.W.... Ingraham H.A.	1992	PRL, POU1F1

Genes related to pituitary hypoplasia according to GeneCards:

(show all 20)

id	Symbol	Description	Score	GeneCards Section Context
1	SOX3	SRY (sex determining region Y)-box 3	11.0
2	HESX1	HESX homeobox 1	11.0	Publications
3	LHX3	LIM homeobox 3	11.0	Publications
4	LIM2	lens intrinsic membrane protein 2, 19kDa	11.0
5	OTX2	orthodenticle homeobox 2	11.0	Publications
6	LHX4	LIM homeobox 4	11.0	Publications
7	POU1F1	POU class 1 homeobox 1	11.0	Publications
8	ESX1	ESX homeobox 1	11.0	Disorders
9	PITX1	paired-like homeodomain 1	11.0
10	PROP1	PROP paired-like homeobox 1	11.0
11	GHRHR	growth hormone releasing hormone receptor	11.0	Publications
12	PTPRS	protein tyrosine phosphatase, receptor type, S	11.0	Publications
13	BMP4	bone morphogenetic protein 4	11.0	Publications
14	GHRH	growth hormone releasing hormone	11.0
15	BMP2	bone morphogenetic protein 2	11.0	Publications
16	POMC	proopiomelanocortin	11.0	Publications
17	GH1	growth hormone 1	11.0	Publications
18	PBX1	pre-B-cell leukemia homeobox 1	11.0	Publications
19	PRL	prolactin	11.0	Publications
20	SOD1	superoxide dismutase 1, soluble	11.0	Publications

Pathways related to pituitary hypoplasia according to GeneDecks:

(show all 35)

id	Pathway	Score	Top Affiliating Genes
1	Transcription factors in neurogenesis10	9.8	PBX1, OTX2, SOX3
2	Selected targets of ESR110	9.8	BMP4, SOD1, SOX3
3	Development_Role of Activin A in cell differentiation and proliferation41	9.8	PITX1, LHX3, PBX1
4	Development Role of Activin A in cell differentiation and proliferation10	9.8	PITX1, LHX3, PBX1
5	PPAR Pathway36	9.5	GH1, BMP4, BMP2
6	Apoptotic Pathways in Synovial Fibroblasts36	9.2	GHRH, GH1, BMP4, BMP2
7	p53 Mediated Apoptosis36	9.2	BMP2, BMP4, GH1, GHRH
8	Glioma Invasiveness36	9.2	BMP2, BMP4, GH1, GHRH
9	Telomerase Components in Cell Signaling36	9.2	GHRH, GH1, BMP4, BMP2
10	Mitochondrial Apoptosis36	9.2	GHRH, GH1, BMP4, BMP2
11	NF-KappaB (p50-p65) Pathway36	9.2	GHRH, GH1, BMP4, BMP2
12	DHA Signaling36	9.2	GHRH, GH1, BMP4, BMP2
13	NF-KappaB Family Pathway36	9.2	GHRH, GH1, BMP4, BMP2
14	mTOR Pathway36	9.2	GHRH, GH1, BMP4, BMP2
15	ERK5 Signaling36	9.2	GHRH, GH1, BMP4, BMP2
16	Cellular Apoptosis Pathway36	9.2	BMP2, BMP4, GH1, GHRH
17	eIF2 Pathway36	9.1	BMP2, BMP4, GH1, GHRH
18	Nanog in Mammalian ESC Pluripotency36	9.1	GHRH, GH1, BMP4, BMP2
19	Nuclear Receptor Activation by Vitamin-A36	9.1	GHRH, GH1, BMP4, BMP2
20	Rac1 Pathway36	9.1	BMP2, BMP4, GH1, GHRH
21	Actin-Based Motility by Rho Family GTPases36	9.1	GHRH, GH1, BMP4, BMP2
22	p70S6K Signaling36	9.1	BMP2, BMP4, GH1, GHRH
23	IP3 Pathway36	9.1	GHRH, GH1, BMP4, BMP2
24	Activation of PKC through GPCR36	9.0	BMP2, BMP4, GH1, GHRH
25	Paxillin Interactions36	9.0	GHRH, GH1, BMP4, BMP2
26	Renin-Angiotensin Pathway36	9.0	BMP2, BMP4, GH1, GHRH
27	14-3-3 Induced Intracellular Signaling36	9.0	GHRH, GH1, BMP4, BMP2
28	Rap1 Pathway36	8.9	BMP2, BMP4, GH1, GHRH
29	Epithelial Adherens Junctions36	8.9	BMP2, BMP4, GH1, GHRH, PTPRS
30	TGF-Beta Pathway36	8.9	GHRH, GH1, BMP4, BMP2
31	Ras Pathway36	8.8	BMP2, BMP4, GH1, GHRH
32	CREB Pathway36	8.8	BMP2, BMP4, GH1, GHRH
33	Pancreatic Adenocarcinoma36	8.7	GHRH, GH1, BMP4, BMP2
34	eNOS Signaling36	8.5	GHRH, GH1, BMP4, BMP2
35	JAK-STAT Pathway36	8.4	PRL, GHRH, GH1, BMP4, BMP2

Compounds related to pituitary hypoplasia according to GeneDecks:

(show all 45)

id	Compound	Score	Top Affiliating Genes
1	ptx132	9.9	POU1F1, POMC, PITX1
2	alendronate32 9 9	11.5	BMP2, GH1, PTPRS
3	flesinoxan32	9.5	PRL, POMC
4	quinagolide32	9.4	GH1, PRL
5	ipsapirone32	9.4	POMC, PRL
6	acth 1-2432	9.3	POMC, PRL
7	fenfluramine32 9 9	11.2	GHRH, PRL, POMC
8	pyridostigmine32 9 9	11.1	GH1, GHRH, PRL
9	lanreotide32	9.1	GH1, GHRH, PRL
10	17-hydroxyprogesterone32 18	9.9	PBX1, PRL, POMC
11	dhea32	8.9	GH1, PRL, POMC
12	polyethylene glycol32	8.9	BMP2, GHRH, PRL
13	metoclopramide32 9 9	10.8	PBX1, GH1, PRL
14	naltrexone32 34 9 9	11.7	POMC, PRL, GHRH, GH1
15	testosterone32 9 18 9	11.7	PROP1, PRL, PBX1, BMP2
16	naloxone32 34 9 9	11.7	POMC, PRL, GHRH, GH1
17	clonidine32 9 9	10.7	GH1, GHRH, PRL, POMC
18	octreotide32 42 9 9	11.7	POMC, PRL, GHRH, GH1
19	opiate32	8.7	POMC, PRL, GHRH, GH1
20	triiodothyronine32	8.7	POMC, PRL, GHRH, GH1
21	thyroxine32 18	9.6	POMC, PRL, GHRH, GH1
22	levodopa32 9 9	10.6	SOD1, PRL, GHRH, GH1
23	adenylate32	8.5	POMC, GHRHR, GHRH, GH1, BMP4
24	bromocriptine32 9 9	10.5	POU1F1, POMC, PRL, GHRH, GH1
25	indomethacin32 9 9	10.5	BMP2, GH1, SOD1, POMC
26	dehydroepiandrosterone sulfate32	8.4	PBX1, GH1, PRL, POMC
27	ascorbic acid32 18	9.4	POMC, SOD1, BMP4, BMP2
28	androstenedione32 18	9.4	POMC, PRL, GH1, PBX1
29	cycloheximide32	8.4	POMC, GHRH, GH1, BMP4, BMP2
30	hydrocortisone32 9 9	10.4	POMC, PRL, GH1, PBX1
31	ghrp32	8.3	PRL, GHRHR, GHRH, GH1, PBX1
32	alanine32	8.3	POU1F1, POMC, SOX3, SOD1, GH1, BMP2
33	forskolin32 42 9 9	11.2	POU1F1, POMC, GHRHR, GHRH, GH1, BMP4
34	gnrh32	8.0	POMC, PROP1, HESX1, PITX1, GHRH, GH1
35	estradiol32 9 18 9	10.9	POMC, PRL, GHRH, GH1, PBX1
36	hexarelin32	7.8	PBX1, POMC, PRL, GHRHR, GHRH, GH1
37	dopamine32 9 18 9	10.7	POU1F1, POMC, PRL, GHRH, GH1, BMP4
38	ribonucleic acid32	7.4	POU1F1, POMC, PRL, GHRHR, GHRH, GH1
39	acth32	7.4	POU1F1, POMC, PROP1, PRL, HESX1, GHRH
40	glucose32	7.2	POMC, PRL, GHRHR, GHRH, GH1, PBX1
41	progesterone32 42 9 18 9	11.1	POU1F1, POMC, PRL, GHRH, GH1, PBX1
42	estrogen32	7.0	POU1F1, POMC, PRL, GHRH, GH1, PBX1
43	steroid32	6.8	POU1F1, POMC, PROP1, PRL, GHRH, GH1
44	dexamethasone32 42 34 9 9	10.8	POU1F1, POMC, PRL, GHRHR, GHRH, GH1
45	arginine32	6.6	POU1F1, POMC, SOD1, PRL, GHRHR, GHRH

Cellular components related to pituitary hypoplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	membrane-bounded vesicle	GO:031988	9.4	BMP2, BMP4
2	extracellular space	GO:005615	7.8	BMP2, BMP4, GH1, GHRH, SOD1, POMC

Biological processes related to pituitary hypoplasia according to GeneDecks:

(show all 16)

id	Name	GO ID	Score	Top Affiliating Genes
1	medial motor column neuron differentiation	GO:021526	10.3	LHX3, LHX4
2	pituitary gland development	GO:021983	10.0	SOX3, LHX3, BMP4
3	mesenchymal cell proliferation involved in ureteric bud development	GO:072138	9.9	BMP4, BMP2
4	positive regulation of growth hormone secretion	GO:060124	9.9	GHRHR, GHRH
5	BMP signaling pathway involved in heart induction	GO:003130	9.9	BMP4, BMP2
6	telencephalon regionalization	GO:021978	9.9	BMP2, BMP4
7	growth hormone secretion	GO:030252	9.8	GHRH, GHRHR
8	regulation of odontogenesis of dentin-containing tooth	GO:042487	9.8	BMP4, BMP2
9	organ morphogenesis	GO:009887	9.7	SOX3, LHX4, LHX3, BMP2
10	positive regulation of cartilage development	GO:061036	9.6	BMP4, BMP2
11	positive regulation of insulin-like growth factor receptor signaling pathway	GO:043568	9.6	GH1, GHRH, GHRHR
12	positive regulation of multicellular organism growth	GO:040018	9.5	GHRHR, GHRH, GH1
13	positive regulation of ossification	GO:045778	9.4	BMP4, BMP2
14	positive regulation of JAK-STAT cascade	GO:046427	9.1	GH1, PRL
15	positive regulation of transcription, DNA-dependent	GO:045893	8.9	POU1F1, OTX2, GHRH, LHX3, BMP4, BMP2
16	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.6	POU1F1, POMC, PROP1, OTX2, LHX3, BMP4

Molecular functions related to pituitary hypoplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	BMP receptor binding	GO:070700	9.4	BMP2, BMP4
2	prolactin receptor binding	GO:005148	9.0	PRL, GH1
3	hormone activity	GO:005179	8.7	GH1, PRL, POMC
4	sequence-specific DNA binding	GO:043565	8.3	PBX1, POU1F1, HESX1, PITX1, OTX2, ESX1
5	sequence-specific DNA binding transcription factor activity	GO:003700	8.0	POU1F1, PROP1, HESX1, PITX1, OTX2, ESX1