CPHD
MCID: CMB021
MIFTS: 36

Combined Pituitary Hormone Deficiency (CPHD) malady

Endocrine diseases category
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Summaries for Combined Pituitary Hormone Deficiency

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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 dwarfism. An important gene associated with Combined Pituitary Hormone Deficiency is PROP1 (PROP paired-like homeobox 1). The compounds gnrh and acth have been mentioned in the context of this disorder. Affiliated tissues include pituitary and bone, and related mouse phenotypes are reproductive system and hearing/vestibular/ear.

Aliases & Classifications for Combined Pituitary Hormone Deficiency

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21Genetics Home Reference
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Classifications:

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


Aliases & Descriptions:

combined pituitary hormone deficiency 21
panhypopituitarism 21
cphd 21


Related Diseases for Combined Pituitary Hormone Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Combined Pituitary Hormone Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 147)
idRelated DiseaseScoreTop Affiliating Genes
1panhypopituitarism31.4LHX3, LHX4, POU1F1, HESX1, PROP1
2dwarfism30.6POU1F1, PROP1
3septo-optic dysplasia30.5PROP1, HESX1, POU1F1, LHX3
4pituitary hypoplasia30.3PROP1, LHX3, LHX4, POU1F1, HESX1
5empty sella syndrome30.3PROP1, POU1F1, LHX3
6acth deficiency30.2POU1F1, HESX1, PROP1
7growth hormone deficiency30.2POU1F1, HESX1, PROP1
8kallmann syndrome30.2PROP1, HESX1, LHX3
9hypogonadism30.1PROP1, POU1F1
10hypothyroidism30.1LHX3, POU1F1, HESX1, PROP1
11hypopituitarism30.1LHX3, LHX4, POU1F1, HESX1, PROP1
12short stature30.0LHX4, POU1F1, HESX1, PROP1
13pituitary tumors30.0PROP1, POU1F1
14pituitary adenoma29.8PROP1, POU1F1
15diabetes insipidus10.6
16prop1-related combined pituitary hormone deficiency10.5
17non-acquired combined pituitary hormone deficiency10.5
18pituitary hormone deficiency, combined 110.4
19lhx4-related combined pituitary hormone deficiency10.4
20lhx3-related combined pituitary hormone deficiency10.4
21otx2-related combined pituitary hormone deficiency10.4
22pou1f1-related combined pituitary hormone deficiency10.4
23hesx1-related combined pituitary hormone deficiency10.4
24aneurysm10.3
25addison's disease10.3
26situs inversus10.2
27sensorineural hearing loss10.2
28hemangioma10.2
29kabuki syndrome10.2
30pituitary hormone deficiency, combined 310.2
31optic nerve hypoplasia10.2
32craniopharyngioma10.2
33pituitary apoplexy10.2
34cushing's syndrome10.2
35breast cancer10.2
36germinoma10.2
37panhypopituitarism x-linked10.2
38hodgkin's lymphoma10.1
39thyroiditis10.1
40thyrotropin deficiency, isolated10.0PROP1, POU1F1
41intracranial aneurysm10.0
42sheehan syndrome10.0
43acromegaly10.0
44cleft lip10.0
45hypogonadotropism10.0
46central nervous system lymphoma10.0
47graves' disease10.0
48arthritis10.0
49diabetes mellitus10.0
50encephalitis10.0

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



Diseases related to combined pituitary hormone deficiency

Symptoms for Combined Pituitary Hormone Deficiency

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Drugs & Therapeutics for Combined Pituitary Hormone Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Combined Pituitary Hormone Deficiency

Search NIH Clinical Center for Combined Pituitary Hormone Deficiency

Genetic Tests for Combined Pituitary Hormone Deficiency

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Anatomical Context for Combined Pituitary Hormone Deficiency

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

33
Pituitary, Bone

Animal Models for Combined Pituitary Hormone Deficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Combined Pituitary Hormone Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.9PROP1, POU1F1, LHX3
2MP:00053778.6LHX3, POU1F1, HESX1
3MP:00053888.6PROP1, HESX1, LHX4
4MP:00053828.5HESX1, POU1F1, LHX3
5MP:00053768.1LHX3, LHX4, POU1F1, PROP1
6MP:00053797.7PROP1, HESX1, POU1F1, LHX4, LHX3
7MP:00036317.7LHX3, LHX4, POU1F1, HESX1, PROP1
8MP:00107687.6PROP1, HESX1, POU1F1, LHX4, LHX3

Publications for Combined Pituitary Hormone Deficiency

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52PubMed
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Articles related to Combined Pituitary Hormone Deficiency:

(show top 50)    (show all 103)
idTitleAuthorsYear
1
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. (23657145)
2013
2
A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. (24346842)
2013
3
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency. (24289245)
2013
4
Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency. (21722153)
2012
5
Novel mutations associated with combined pituitary hormone deficiency. (21447626)
2011
6
A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature. (21249393)
2011
7
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. (21396574)
2011
8
A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees. (20395664)
2010
9
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. (20534763)
2010
10
Growth without growth hormone and similar dysmorphic features in three patients with sporadic combined pituitary hormone deficiencies. (19844116)
2009
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
Clinical and genetic aspects of combined pituitary hormone deficiencies]. (18291347)
2008
14
A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency. (18059085)
2008
15
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. (18728160)
2008
16
Laterality disturbance and hypopituitarism. A case report of co-existing situs inversus totalis and combined pituitary hormone deficiency. (18296909)
2008
17
Combined pituitary hormone deficiency and PROP-1 mutation in two siblings: a distinct MR imaging pattern of pituitary enlargement. (17698542)
2007
18
Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency. (18157385)
2007
19
Congenital combined pituitary hormone deficiency attributable to a novel PROP1 mutation (467insT). (16759034)
2006
20
Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation. (17162714)
2006
21
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? (16060904)
2005
22
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. (15928241)
2005
23
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
24
Chromosomal translocation t(10;11)(q26;q13) in a woman with combined pituitary hormone deficiency. (15192287)
2004
25
Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development. (15567726)
2004
26
Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging. (14646405)
2003
27
Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates. (12780757)
2003
28
Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency. (12717343)
2003
29
New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype. (12932747)
2003
30
The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient. (12904605)
2003
31
PROP-1 gene mutation (R120C) causing combined pituitary hormone deficiencies with variable clinical course in eight siblings of one Jewish Moroccan family. (14614227)
2003
32
A novel mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies. (11924936)
2002
33
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
34
Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates. (11222742)
2001
35
Insufficient adrenarche in patients with combined pituitary hormone deficiency caused by a PROP-1 gene defect. (11592567)
2001
36
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. (11549674)
2001
37
Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. (10792348)
2000
38
MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations. (10658742)
2000
39
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
40
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. (10946881)
2000
41
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
42
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. (11134108)
2000
43
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
44
Mutations in PROP1 cause familial combined pituitary hormone deficiency. (9462743)
1998
45
Lack of normal MR enhancement of the pituitary gland: findings in three siblings with combined pituitary hormone deficiency. (9504480)
1998
46
Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency. (9632165)
1998
47
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
48
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency. (9745452)
1998
49
Pituitary specific transcription factor Pit-1/GHF-1 and combined pituitary hormone deficiency]. (8196186)
1994
50
A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. (1509262)
1992

Variations for Combined Pituitary Hormone Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Combined Pituitary Hormone Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1PROP1NM_006261.4(PROP1): c.301_302delAG (p.Leu102Cysfs)deletionPathogenicrs193922688GRCh37Chr 5, 177421147: 177421148

Expression for genes affiliated with Combined Pituitary Hormone Deficiency

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2BioGPS, 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

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Compounds for genes affiliated with Combined Pituitary Hormone Deficiency

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45Novoseek
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Compounds related to Combined Pituitary Hormone Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gnrh458.6PROP1, HESX1, LHX3
2acth458.4PROP1, HESX1, POU1F1

GO Terms for genes affiliated with Combined Pituitary Hormone Deficiency

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16Gene Ontology
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Cellular components related to Combined Pituitary Hormone Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.4PROP1, LHX3
2nucleusGO:0056347.2PROP1, HESX1, POU1F1, LHX4, LHX3

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

idNameGO IDScoreTop Affiliating Genes
1medial motor column neuron differentiationGO:0215269.4LHX4, LHX3
2motor neuron axon guidanceGO:0080459.4LHX4, LHX3
3placenta developmentGO:0018909.3LHX4, LHX3
4organ morphogenesisGO:0098879.0LHX4, LHX3
5positive regulation of transcription from RNA polymerase II promoterGO:0459448.9PROP1, POU1F1, LHX3
6negative regulation of apoptotic processGO:0430668.8LHX3, LHX4, PROP1

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

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:0080229.2PROP1, HESX1
2chromatin bindingGO:0036828.4PROP1, HESX1, POU1F1
3sequence-specific DNA bindingGO:0435657.9LHX3, LHX4, POU1F1, HESX1
4sequence-specific DNA binding transcription factor activityGO:0037007.5PROP1, HESX1, POU1F1, LHX4, LHX3

Products for genes affiliated with Combined Pituitary Hormone Deficiency

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Sources for Combined Pituitary Hormone Deficiency

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet