CPHD
MCID: CMB021
MIFTS: 46

Combined Pituitary Hormone Deficiency (CPHD) malady

Endocrine category

Summaries for Combined Pituitary Hormone Deficiency

Sources:
21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood.

MalaCards: Combined Pituitary Hormone Deficiency, also known as panhypopituitarism, is related to panhypopituitarism and diabetes insipidus. An important gene associated with Combined Pituitary Hormone Deficiency is PROP1 (PROP paired-like homeobox 1), and among its related pathways are Glucocorticoid Pathway (HPA Axis), Pharmacodynamics and Insulin Processing. The compounds estrogen and norepinephrine have been mentioned in the context of this disorder. Affiliated tissues include brain, adrenal gland and pituitary, and related mouse phenotypes are hearing/vestibular/ear and adipose tissue.

Aliases & Classifications for Combined Pituitary Hormone Deficiency

Sources:
21Genetics Home Reference
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine


Aliases & Descriptions:

combined pituitary hormone deficiency 21
panhypopituitarism 21
cphd 21


Related Diseases for Combined Pituitary Hormone Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Combined Pituitary Hormone Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 223)
idRelated DiseaseScoreTop Affiliating Genes
1panhypopituitarism31.6TSHB, POMC, POU1F1, IGF1, PROP1, PRL
2diabetes insipidus30.8PRL, POMC
3growth hormone deficiency30.8GH1, CRH, SOX3, HESX1, PRL, PROP1
4pituitary hypoplasia30.7OTX2, POU1F1, PROP1, SOX3, HESX1, LHX3
5septo-optic dysplasia30.6HESX1, SOD1
6dwarfism30.5GH1, PROP1, IGFBP3, IGF1, POU1F1
7sheehan syndrome30.5POMC, IGF1, PRL, CRH
8empty sella syndrome30.3PRL, POMC
9pituitary apoplexy30.3POMC, PRL
10kallmann syndrome30.3LHX3, HESX1, PROP1, PROKR2, FGF8
11acth deficiency30.3PROP1, PRL, GH1, CRH, HESX1, POU1F1
12cushing's syndrome30.2CRH, GH1, POMC
13addison's disease30.1CRH, POMC
14short stature30.1IGFBP3, PROP1, PRL, GH1, HESX1, LHX4
15acromegaly30.0PBX1, INS, POMC, IGF1, IGFBP3, PRL
16mental retardation29.8SOX3
17azoospermia29.8PRL
18blindness29.8INS
19thyrotoxicosis29.8INS
20isolated growth hormone deficiency29.8GH1, POU1F1
21hypoadrenalism29.8POMC, GH1, CRH
22noonan syndrome29.8IGF1, IGFBP3
23amenorrhea29.7CRH, PRL, IGF1, POMC, INS
24anorexia nervosa29.7CRH, GH1, PRL, IGFBP3, IGF1, POMC
25adenoma29.7CRH, GH1, PRL, PROP1, IGFBP3, IGF1
26prop1-related combined pituitary hormone deficiency10.5
27pituitary hormone deficiency, combined 310.4
28nonacquired combined pituitary hormone deficiency10.4
29pituitary hormone deficiency, combined 110.3
30lhx4-related combined pituitary hormone deficiency10.3
31lhx3-related combined pituitary hormone deficiency10.3
32otx2-related combined pituitary hormone deficiency10.3
33pou1f1-related combined pituitary hormone deficiency10.3
34hesx1-related combined pituitary hormone deficiency10.3
35panhypopituitarism x-linked10.2
36sensorineural hearing loss10.2
37situs inversus10.2
38protein c deficiency10.2
39kabuki syndrome10.2
40internal carotid agenesis10.2
41pituitary hormone deficiency, combined 410.2
42optic nerve hypoplasia10.2
43n syndrome10.2
44germinoma10.2
45central nervous system lymphoma10.1
46cleft palate10.1
47central nervous system lymphoma, primary10.1
48prss1-related hereditary pancreatitis10.0
49small cell carcinoma10.0
50intracranial aneurysm10.0

Graphical network of the top 20 diseases related to Combined Pituitary Hormone Deficiency:



Diseases related to combined pituitary hormone deficiency

Clinical Features for Combined Pituitary Hormone Deficiency

Drugs & Therapeutics for Combined Pituitary Hormone Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Combined Pituitary Hormone Deficiency

Drug clinical trials:

Search ClinicalTrials for Combined Pituitary Hormone Deficiency

Search NIH Clinical Center for Combined Pituitary Hormone Deficiency

Search CenterWatch for Combined Pituitary Hormone Deficiency

Genetic Tests for Combined Pituitary Hormone Deficiency

Anatomical Context for Combined Pituitary Hormone Deficiency

Sources:
33MalaCards
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MalaCards organs/tissues related to Combined Pituitary Hormone Deficiency:

33
Brain, Adrenal gland, Pituitary

Animal Models for Combined Pituitary Hormone Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Combined Pituitary Hormone Deficiency:

37 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2LHX3, HESX1, FGF8, PBX1, OTX2
2MP:00053759.0INS, POMC, IGF1, IGFBP3, GH1
3MP:00053798.7OTX2, LHX3, HESX1, SOX3, PROP1, PROKR2
4MP:00053828.7LHX3, HESX1, SOX3, POU1F1, FGF8, PBX1
5MP:00053888.7LHX4, HESX1, CRH, PROP1, IGF1, PBX1
6MP:00053708.3SOD1, GH1, PRL, IGFBP3, POMC, INS
7MP:00053808.2HESX1, SOX3, PRL, FGF8, INS, PBX1
8MP:00107718.1CRH, PRL, PROKR2, IGF1, POMC, INS
9MP:00053877.6SOD1, CRH, PRL, IGF1, POU1F1, POMC
10MP:00053977.4SOD1, CRH, IGF1, POU1F1, POMC, FGF8
11MP:00053867.0SOX3, SOD1, CRH, PRL, PROP1, PROKR2
12MP:00053846.9LHX4, SOX3, SOD1, CRH, PROP1, PROKR2
13MP:00053896.9LHX3, SOX3, SOD1, GH1, PRL, PROP1
14MP:00107686.7PROP1, SOD1, SOX3, HESX1, LHX3, LHX4
15MP:00053786.6PROKR2, PROP1, GH1, CRH, SOX3, LHX3
16MP:00036316.0GH1, CRH, SOD1, SOX3, HESX1, LHX3
17MP:00053765.9PRL, GH1, CRH, SOD1, SOX3, LHX3

Publications for Combined Pituitary Hormone Deficiency

Sources:
51PubMed
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Articles related to Combined Pituitary Hormone Deficiency:

(show top 50)    (show all 105)
idTitleAuthorsYear
1
Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency. (24025721)
2014
2
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. (23657145)
2013
3
Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency. (22897141)
2013
4
Comparison of response to 2-years' growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large observational studies. (22788856)
2012
5
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. (22319038)
2012
6
Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report. (22797803)
2012
7
Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency. (23692781)
2012
8
X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family. (22001696)
2011
9
A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood. (21521297)
2011
10
A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees. (20395664)
2010
11
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). (19128366)
2009
12
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency. (19498317)
2009
13
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. (18854396)
2009
14
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. (18728160)
2008
15
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)
2007
16
The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency. (17526949)
2006
17
The role of CBP/p300 interactions and Pit-1 dimerization in the pathophysiological mechanism of combined pituitary hormone deficiency. (16263824)
2006
18
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. (15928241)
2005
19
Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. (15670191)
2005
20
Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency. (15844473)
2005
21
Chromosomal translocation t(10;11)(q26;q13) in a woman with combined pituitary hormone deficiency. (15192287)
2004
22
Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency. (12717343)
2003
23
Diagnosis of growth hormone deficiency after pituitary surgery: the combined acipimox/GH-releasing hormone test. (12580930)
2003
24
New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype. (12932747)
2003
25
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. (12519827)
2003
26
Adrenocorticotrope deficiency with clinical evidence for late onset in combined pituitary hormone deficiency caused by a homozygous 301-302delAG mutation of the PROP1 gene. (12812307)
2002
27
Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects. (12006708)
2002
28
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty. (12153609)
2002
29
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. (11549674)
2001
30
LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes. (11255008)
2001
31
Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. (10792348)
2000
32
Cloning, characterization, and physical mapping of the canine Prop-1 gene (PROP1): exclusion as a candidate for combined pituitary hormone deficiency in German shepherd dogs. (10773688)
2000
33
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. (10946881)
2000
34
Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene. (10634415)
2000
35
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. (11134108)
2000
36
Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene. (11022176)
2000
37
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. (10835633)
2000
38
Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene. (10084575)
1999
39
Combined pituitary hormone deficiency in an inbred Brazilian kindred associated with a mutation in the PROP-1 gene. (10329025)
1999
40
"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. (10323394)
1999
41
Mutations in PROP1 cause familial combined pituitary hormone deficiency. (9462743)
1998
42
Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C). (9768691)
1998
43
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. (9745452)
1998
44
A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency. (11081182)
1998
45
A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency. (7670563)
1995
46
A 'hot spot' in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates. (7852536)
1995
47
PROP1-Related Combined Pituitary Hormone Deficiency (20301521)
1993
48
A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. (1509262)
1992
49
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. (1472057)
1992
50
A new test for the diagnosis of growth hormone deficiency due to primary pituitary impairment: combined administration of pyridostigmine and growth hormone-releasing hormone. (2115060)
1990

Genetic Variations for Combined Pituitary Hormone Deficiency

Expression for genes affiliated with Combined Pituitary Hormone Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Combined Pituitary Hormone Deficiency

Search GEO for disease gene expression data for Combined Pituitary Hormone Deficiency.

Pathways for genes affiliated with Combined Pituitary Hormone Deficiency

Sources:
50PharmGKB, 54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 52QIAGEN
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Compounds for genes affiliated with Combined Pituitary Hormone Deficiency

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
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Compounds related to Combined Pituitary Hormone Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 100)
idCompoundScoreTop Affiliating Genes
1estrogen4510.6TSHB
2norepinephrine45 11 2412.2PRL, POMC
3quinagolide4510.0PRL, IGF1, GH1
4acth 1-244510.0POMC, PRL, CRH
5bromocriptine29 45 1111.9PRL, IGFBP3, POU1F1, POMC
611 deoxycortisol459.9PRL, CRH, POMC
7mecasermin45 1110.8INS, IGFBP3, IGF1
8lanreotide45 2910.8IGF1, IGFBP3, GH1, PRL
9fenfluramine29 45 1111.8CRH, PRL, IGFBP3, POMC
10dopamine45 29 11 2412.7IGF1, FGF8, CRH
11cabergoline29 45 1111.7IGFBP3, IGF1, PRL, GH1
125-hydroxytryptophan459.7CRH, GH1, PRL
13naloxone45 50 29 1112.7CRH, GH1, PRL, POMC
14oxandrolone45 1110.6IGFBP3, IGF1, INS, GH1
15pegvisomant45 1110.6IGF1, IGFBP3, GH1
16carbamazepine45 50 1111.6PRL, IGFBP3, POMC, CRH
17l-nmma459.5IGF1, GH1, CRH, SOD1
18pyridostigmine45 1110.5IGFBP3, GH1, CRH, PRL, IGF1
19opiate459.5CRH, PRL, POMC, GH1
2017-hydroxyprogesterone45 2410.5PRL, PBX1, CRH, POMC
21clonidine45 29 1111.5IGFBP3, POMC, IGF1, PRL, GH1
22megestrol acetate459.5POMC, IGF1, IGFBP3
23metformin45 50 1111.4GH1, IGF1, POMC, INS
24sulpiride45 29 1111.4PRL, GH1, CRH
25cortisone45 2410.4CRH, INS, GH1, IGF1, POMC
26c-peptide459.4INS, GH1, IGF1, IGFBP3
27gnrh459.3LHX3, PBX1, IGFBP3, PROP1, GH1, HESX1
28dehydroepiandrosterone sulfate459.3GH1, CRH, IGFBP3, POMC, PBX1
29triiodothyronine459.3IGFBP3, GH1, TSHB, POMC, IGF1, PRL
30ghrp459.3IGF1, PBX1, IGFBP3, PRL, GH1
31naltrexone45 50 29 1112.3POMC, IGF1, IGFBP3, PRL, GH1, CRH
32glycerol45 11 2411.2CRH, GH1, POMC, INS, IGFBP3
33clomiphene citrate459.2CRH, GH1, IGFBP3, IGF1, INS, PRL
34epinephrine45 11 2411.1POMC, CRH, GH1, IGFBP3, INS, PRL
35octreotide45 60 29 1111.9POMC, INS, IGF1, IGFBP3, CRH, PRL
36dhea458.9IGFBP3, INS, POMC, CRH, IGF1, PRL
37alanine458.9SOX3, CRH, GH1, POU1F1, SOD1, INS
38ribonucleic acid458.8POMC, CRH, IGFBP3, TSHB, GH1, POU1F1
39hexarelin45 299.8IGF1, IGFBP3, GH1, CRH, PRL, POMC
40thyroxine45 249.7TSHB, INS, POMC, IGFBP3, PRL, GH1
41estradiol45 11 2410.7PBX1, CRH, IGF1, GH1, PRL, POMC
42creatinine458.7GH1, CRH, IGF1, SOD1, IGFBP3, POMC
43hydrocortisone45 2 60 1111.7PBX1, POMC, IGF1, PRL, CRH, INS
44progesterone45 60 29 11 2412.5GH1, PBX1, CRH, PRL, IGFBP3, IGF1
45androstenedione45 249.4INS, CRH, PRL, GH1, IGFBP3, IGF1
46steroid458.4IGFBP3, PBX1, POU1F1, IGF1, PROP1, PRL
47dexamethasone45 50 29 1111.1GH1, IGF1, POU1F1, POMC, INS, CRH
48acth458.0PBX1, POMC, POU1F1, PRL, GH1, CRH
49arginine457.8POU1F1, INS, IGF1, PRL, IGFBP3, GH1
50testosterone45 60 11 2410.7CRH, PROP1, IGFBP3, PBX1, INS, FGF8

GO Terms for genes affiliated with Combined Pituitary Hormone Deficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to Combined Pituitary Hormone Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:0347749.8INS, POMC
2insulin-like growth factor binding protein complexGO:0169429.6IGF1, IGFBP3
3extracellular spaceGO:0056157.8SOD1, CRH, GH1, IGFBP3, IGF1, POMC
4extracellular regionGO:0055767.4TSHB, SOD1, CRH, GH1, PRL, IGFBP3

Biological processes related to Combined Pituitary Hormone Deficiency according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1medial motor column neuron differentiationGO:02152610.4LHX3, LHX4
2parturitionGO:00756710.1CRH, PRL
3otic vesicle formationGO:03091610.1HESX1, FGF8
4placenta developmentGO:00189010.1LHX4, LHX3, SOD1
5positive regulation of insulin-like growth factor receptor signaling pathwayGO:04356810.0IGF1, IGFBP3, GH1
6regulation of ossificationGO:0302789.9PRL, PBX1
7regulation of multicellular organism growthGO:0400149.9SOD1, PRL, IGF1
8hypothalamus developmentGO:0218549.9CRH, SOX3
9positive regulation of glycolysisGO:0458219.8INS, IGF1
10forebrain morphogenesisGO:0488539.8HESX1, FGF8
11positive regulation of phosphatidylinositol 3-kinase cascadeGO:0140689.8INS, IGF1, GH1
12positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.8INS, IGF1, GH1
13positive regulation of glycogen biosynthetic processGO:0457259.8INS, IGF1
14positive regulation of MAPK cascadeGO:0434109.7IGFBP3, IGF1, INS
15response to ethanolGO:0454719.7PRL, CRH, SOD1
16positive regulation of JAK-STAT cascadeGO:0464279.7PRL, GH1
17organ morphogenesisGO:0098879.7PBX1, SOX3, LHX3, LHX4
18positive regulation of mitosisGO:0458409.6INS, FGF8, IGF1
19positive regulation of transcription from RNA polymerase II promoterGO:0459449.4LHX3, PROP1, IGF1, POU1F1, POMC, OTX2
20cellular protein metabolic processGO:0442679.2TSHB, INS, POMC, IGF1, IGFBP3
21positive regulation of cell proliferationGO:0082848.7CRH, IGF1, POU1F1, FGF8, INS, PBX1

Molecular functions related to Combined Pituitary Hormone Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1prolactin receptor bindingGO:0051489.9PRL, GH1
2insulin-like growth factor receptor bindingGO:0051599.8INS, IGF1
3RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positiveGO:0010779.3POU1F1, PBX1, OTX2
4sequence-specific DNA bindingGO:0435659.1LHX4, LHX3, HESX1, POU1F1, PBX1, OTX2
5sequence-specific DNA binding transcription factor activityGO:0037008.9LHX4, LHX3, HESX1, PROP1, POU1F1, PBX1
6hormone activityGO:0051798.7TSHB, CRH, GH1, PRL, IGF1, POMC

Products for genes affiliated with Combined Pituitary Hormone Deficiency

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Sources for Combined Pituitary Hormone Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet