CPHD
MCID: CMB021
MIFTS: 37

Combined Pituitary Hormone Deficiency (CPHD) malady

Categories: Endocrine diseases

Aliases & Classifications for Combined Pituitary Hormone Deficiency

Aliases & Descriptions for Combined Pituitary Hormone Deficiency:

Name: Combined Pituitary Hormone Deficiency 25 29
Panhypopituitarism 25 69
Cphd 25

Classifications:



Summaries for Combined Pituitary Hormone Deficiency

Genetics Home Reference : 25 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 based summary : Combined Pituitary Hormone Deficiency, also known as panhypopituitarism, is related to prop1-related combined pituitary hormone deficiency and panhypopituitarism, x-linked. An important gene associated with Combined Pituitary Hormone Deficiency is PROP1 (PROP Paired-Like Homeobox 1). The drugs Testosterone and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and bone, and related phenotypes are endocrine/exocrine gland and craniofacial

Wikipedia : 71 Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced... more...

Related Diseases for Combined Pituitary Hormone Deficiency

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

(show all 50)
id Related Disease Score Top Affiliating Genes
1 prop1-related combined pituitary hormone deficiency 12.2
2 panhypopituitarism, x-linked 12.2
3 otx2-related combined pituitary hormone deficiency 12.2
4 hesx1-related combined pituitary hormone deficiency 12.2
5 lhx3-related combined pituitary hormone deficiency 12.1
6 lhx4-related combined pituitary hormone deficiency 12.1
7 pou1f1-related combined pituitary hormone deficiency 12.1
8 combined pituitary hormone deficiencies, genetic forms 12.1
9 pituitary hormone deficiency, combined, 3 11.8
10 pituitary hormone deficiency, combined, 1 11.7
11 pituitary hormone deficiency, combined, 4 11.6
12 pituitary hormone deficiency, combined, 2 11.6
13 mental retardation, x-linked, with isolated growth hormone deficiency 11.5
14 septooptic dysplasia 11.0
15 pituitary hormone deficiency, combined, 6 11.0
16 mental retardation, x-linked syndromic, christianson type 10.1 POU1F1 PROP1
17 caudal regression syndrome 10.0 POU1F1 PROP1
18 pagod syndrome 10.0 HESX1 OTX2
19 cholesterol embolism 10.0 POU1F1 PROP1
20 potter's syndrome 10.0 LHX3 PROP1
21 rheumatic encephalitis 10.0 POU1F1 PROP1
22 microvascular complications of diabetes 3 10.0 HESX1 POU1F1
23 gynandroblastoma 9.9 HESX1 POU1F1
24 pituitary hypoplasia 9.8
25 dwarfism 9.8
26 growth hormone deficiency 9.8
27 epidural neoplasm 9.8 HESX1 LHX3 PROP1
28 plasmalogens synthesis deficiency isolated 9.7 HESX1 LHX4 POU1F1
29 hemangioma 9.7
30 isolated growth hormone deficiency 9.7
31 sensorineural hearing loss 9.7
32 microphthalmia 9.7
33 hypogonadism 9.7
34 kallmann syndrome 9.7
35 hypogonadotropism 9.7
36 situs inversus 9.7
37 hypopituitarism 9.7
38 optic nerve hypoplasia 9.7
39 acth deficiency 9.7
40 shaver's disease 9.7 HESX1 LHX3 POU1F1 PROP1
41 adult i blood group with or without congenital cataract 9.7 HESX1 LHX3 POU1F1 PROP1
42 congenital amputation 9.4 HESX1 LHX4 OTX2 POU1F1 PROP1
43 idiopathic hypersomnia without long sleep time 9.4 HESX1 LHX3 LHX4 POU1F1 PROP1
44 aminoacylase 1 deficiency 9.4 HESX1 LHX3 LHX4 POU1F1 PROP1
45 mucopolysaccharidosis type vi 9.4 HESX1 LHX3 LHX4 POU1F1 PROP1
46 urethra clear cell adenocarcinoma 9.4 HESX1 LHX3 LHX4 POU1F1 PROP1
47 cervix squamous papilloma 9.4 HESX1 LHX3 LHX4 POU1F1 PROP1
48 l-cell glucagon-like peptide producing tumor 9.3 HESX1 LHX3 LHX4 OTX2 POU1F1
49 early-onset glaucoma 9.2 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
50 ossification of the posterior longitudinal ligament of spine 9.2 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1

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



Diseases related to Combined Pituitary Hormone Deficiency

Symptoms & Phenotypes for Combined Pituitary Hormone Deficiency

MGI Mouse Phenotypes related to Combined Pituitary Hormone Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.8 LHX3 LHX4 OTX2 POU1F1 PROP1 HESX1
2 craniofacial MP:0005382 9.67 LHX3 OTX2 POU1F1 HESX1
3 mortality/aging MP:0010768 9.63 LHX3 LHX4 OTX2 POU1F1 PROP1 HESX1
4 hearing/vestibular/ear MP:0005377 9.56 LHX3 OTX2 POU1F1 HESX1
5 nervous system MP:0003631 9.43 LHX3 LHX4 OTX2 POU1F1 PROP1 HESX1
6 respiratory system MP:0005388 8.92 LHX4 OTX2 PROP1 HESX1

Drugs & Therapeutics for Combined Pituitary Hormone Deficiency

Drugs for Combined Pituitary Hormone Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 109)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 4 58-22-0 6013
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
4
Methyltestosterone Approved Phase 4 58-18-4 6010
5
Cosyntropin Approved Phase 4 16960-16-0 16129617
6 Testosterone undecanoate Phase 4
7 Cortisol succinate Phase 4
8 Testosterone 17 beta-cypionate Phase 4
9
Testosterone enanthate Phase 4 315-37-7 9416
10 Anabolic Agents Phase 4
11 Hormone Antagonists Phase 4,Phase 3,Phase 2
12 Androgens Phase 4
13 Hormones Phase 4,Phase 3,Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
15 Hydrocortisone 17-butyrate 21-propionate Phase 4
16 Hydrocortisone acetate Phase 4
17 Epinephryl borate Phase 4
18 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3
19 Racepinephrine Phase 4
20 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
21
Vinblastine Approved Phase 2, Phase 3 865-21-4 13342 241903
22
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
23
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
24
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
25
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
26
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
27
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
28
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
29
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
30
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 54575, 6560146 143
31
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
32 insulin Phase 3,Phase 2
33 Insulin, Globin Zinc Phase 3,Phase 2
34 Analgesics Phase 2, Phase 3
35 Growth Hormone-Releasing Hormone Phase 3
36 Analgesics, Non-Narcotic Phase 2, Phase 3
37 Peripheral Nervous System Agents Phase 2, Phase 3
38 Prednisolone acetate Phase 2, Phase 3
39 glucocorticoids Phase 2, Phase 3
40 Folic Acid Antagonists Phase 2, Phase 3
41 Cyclooxygenase Inhibitors Phase 2, Phase 3
42 Tocolytic Agents Phase 2, Phase 3
43 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
44 Dermatologic Agents Phase 2, Phase 3
45 Vitamin B Complex Phase 2, Phase 3
46 Immunoglobulins Phase 2, Phase 3
47 gamma-Globulins Phase 2, Phase 3
48 Prednisolone hemisuccinate Phase 2, Phase 3
49 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
50 6-Mercaptopurine Phase 2, Phase 3

Interventional clinical trials:

(show all 16)
id Name Status NCT ID Phase
1 Testosterone Gel Applied to Women With Pituitary Gland Problems Unknown status NCT00144391 Phase 4
2 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Unknown status NCT00851942 Phase 4
3 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4
4 Comparative Validation of the Growth Hormone Releasing Hormone and Arginine Test for the Diagnosis of Adult Growth Hormone Deficiency Completed NCT01060488 Phase 3
5 Investigation of a New, Oral Growth Hormone Secretagogue, Macimorelin (AEZS-130) as a Growth Hormone Stimulation Test. Completed NCT00448747 Phase 3
6 LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell Histiocytosis Recruiting NCT02205762 Phase 2, Phase 3
7 Growth Hormone as Add-on Treatment in Severe Fibromyalgia With Low IGF-1 Serum Levels (56 Characters) Completed NCT00497562 Phase 2
8 rhGH and rhIGF-1 Combination Therapy in Children With Short Stature Associated With IGF-1 Deficiency Terminated NCT00572156 Phase 2
9 Tumor Classification and Its Application in Surgical Treatment of Craniopharyngioma Unknown status NCT00949156 Phase 1
10 Pegvisomant With Glucagon Test to Assess for Adult Growth Hormone Deficiency Unknown status NCT01804413
11 Central Hypothyroidism, a Novel Laboratory Measurement Unknown status NCT01280292
12 Effects of Growth Hormone Supplementation to Adults With Growth Hormone Deficient on Metabolism and Adipose Tissue Molecular Phenotype Unknown status NCT01616095
13 A Prospective Observational Study of Effect of Somatropin on Growth Hormone Deficient Adults Completed NCT01088399
14 Inhalation/Nasal Corticosteroids and Prevalence of Hypothalamic-pituitary-adrenal (HPA) Axis Suppression in Human Immunodeficiency Virus (HIV)-Patients Recruiting NCT02501486
15 Effect of Nutritional Formula Supplementation on Growth Rate of Growth Hormone (GH) Treated Children With Growth Hormone Deficiency (GHD) After the Second Year of Therapy Not yet recruiting NCT03053687
16 Baseline Sexual Function, Cognitive Function, Body Composition and Muscle Parameters and Pharmacokinetics of Transdermal Testosterone Gel in Women With Hypopituitarism Withdrawn NCT00144404

Search NIH Clinical Center for Combined Pituitary Hormone Deficiency

Genetic Tests for Combined Pituitary Hormone Deficiency

Genetic tests related to Combined Pituitary Hormone Deficiency:

id Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 29

Anatomical Context for Combined Pituitary Hormone Deficiency

MalaCards organs/tissues related to Combined Pituitary Hormone Deficiency:

39
Pituitary, Brain, Bone

Publications for Combined Pituitary Hormone Deficiency

Articles related to Combined Pituitary Hormone Deficiency:

(show top 50) (show all 123)
id Title Authors Year
1
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. ( 27828722 )
2016
2
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency. ( 26733480 )
2016
3
Genetic causes of isolated and combined pituitary hormone deficiency. ( 27974184 )
2016
4
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. ( 27299576 )
2016
5
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. ( 27885216 )
2016
6
Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. ( 27756091 )
2016
7
Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt. ( 26970862 )
2016
8
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. ( 26781211 )
2016
9
Circulating microRNA profiles and the identification of miR-593 and miR-511 which directly target the PROP1 gene in children with combined pituitary hormone deficiency. ( 25434367 )
2015
10
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. ( 26111865 )
2015
11
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. ( 26147833 )
2015
12
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. ( 26608600 )
2015
13
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. ( 25678757 )
2015
14
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. ( 26059845 )
2015
15
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients. ( 26141714 )
2015
16
A novel KAL1 mutation is associated with combined pituitary hormone deficiency. ( 27081504 )
2014
17
Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center. ( 25315032 )
2014
18
Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency. ( 24025721 )
2014
19
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. ( 25500790 )
2014
20
Combined pituitary hormone deficiency: current and future status. ( 25200994 )
2014
21
Developmental analysis and influence of genetic background on the Lhx3 W227ter mouse model of combined pituitary hormone deficiency disease. ( 23288907 )
2013
22
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency. ( 24289245 )
2013
23
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. ( 23657145 )
2013
24
Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency. ( 22897141 )
2013
25
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
26
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. ( 22319038 )
2012
27
Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. ( 22238406 )
2012
28
A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. ( 22715480 )
2012
29
A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency. ( 22286346 )
2012
30
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. ( 22010633 )
2012
31
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
32
Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency. ( 23692781 )
2012
33
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
34
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. ( 21396574 )
2011
35
Novel mutations associated with combined pituitary hormone deficiency. ( 21447626 )
2011
36
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
37
X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family. ( 22001696 )
2011
38
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
39
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
40
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. ( 20231366 )
2010
41
A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees. ( 20395664 )
2010
42
A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency. ( 19856252 )
2010
43
PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency. ( 20389107 )
2010
44
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency. ( 19498317 )
2009
45
Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). ( 19128366 )
2009
46
Growth without growth hormone and similar dysmorphic features in three patients with sporadic combined pituitary hormone deficiencies. ( 19844116 )
2009
47
A novel mutation in the LIM homeobox 3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations. ( 19126629 )
2009
48
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. ( 18854396 )
2009
49
A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency. ( 18059085 )
2008
50
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. ( 18728160 )
2008

Variations for Combined Pituitary Hormone Deficiency

ClinVar genetic disease variations for Combined Pituitary Hormone Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PROP1 NM_006261.4(PROP1): c.301_302delAG (p.Leu102Cysfs) deletion Pathogenic rs193922688 GRCh37 Chromosome 5, 177421147: 177421148

Expression for Combined Pituitary Hormone Deficiency

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

Pathways for Combined Pituitary Hormone Deficiency

GO Terms for Combined Pituitary Hormone Deficiency

Cellular components related to Combined Pituitary Hormone Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.43 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
2 transcription factor complex GO:0005667 8.8 LHX3 POU1F1 PROP1

Biological processes related to Combined Pituitary Hormone Deficiency according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.78 LHX3 OTX2 POU1F1 PROP1
2 regulation of transcription, DNA-templated GO:0006355 9.73 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
3 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.71 HESX1 POU1F1 PROP1
4 transcription from RNA polymerase II promoter GO:0006366 9.71 LHX3 OTX2 POU1F1 PROP1
5 positive regulation of transcription, DNA-templated GO:0045893 9.7 LHX3 OTX2 POU1F1
6 negative regulation of apoptotic process GO:0043066 9.69 LHX3 LHX4 PROP1
7 animal organ morphogenesis GO:0009887 9.54 LHX3 LHX4 PROP1
8 dorsal/ventral pattern formation GO:0009953 9.49 LHX3 PROP1
9 placenta development GO:0001890 9.46 LHX3 LHX4
10 motor neuron axon guidance GO:0008045 9.43 LHX3 LHX4
11 adenohypophysis development GO:0021984 9.32 POU1F1 PROP1
12 somatotropin secreting cell differentiation GO:0060126 9.16 POU1F1 PROP1
13 medial motor column neuron differentiation GO:0021526 8.96 LHX3 LHX4
14 pituitary gland development GO:0021983 8.8 HESX1 LHX3 POU1F1

Molecular functions related to Combined Pituitary Hormone Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.63 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
2 chromatin binding GO:0003682 9.54 HESX1 POU1F1 PROP1
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.43 LHX3 OTX2 POU1F1
4 RNA polymerase II transcription factor binding GO:0001085 9.32 LHX3 POU1F1
5 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.26 HESX1 LHX3 OTX2 POU1F1
6 sequence-specific DNA binding GO:0043565 9.1 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1

Sources for Combined Pituitary Hormone Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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