MCID: CMB021
MIFTS: 36

Combined Pituitary Hormone Deficiency

Categories: Endocrine diseases

Aliases & Classifications for Combined Pituitary Hormone Deficiency

MalaCards integrated aliases for Combined Pituitary Hormone Deficiency:

Name: Combined Pituitary Hormone Deficiency 25
Panhypopituitarism 25 69
Pituitary Hormone Deficiency, Combined 29
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 Methyltestosterone and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and testes, and related phenotypes are endocrine/exocrine gland and craniofacial

Wikipedia : 72 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 top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 prop1-related combined pituitary hormone deficiency 12.3
2 panhypopituitarism, x-linked 12.2
3 combined pituitary hormone deficiencies, genetic forms 12.1
4 lhx3-related combined pituitary hormone deficiency 12.1
5 lhx4-related combined pituitary hormone deficiency 12.1
6 otx2-related combined pituitary hormone deficiency 12.1
7 pou1f1-related combined pituitary hormone deficiency 12.1
8 hesx1-related combined pituitary hormone deficiency 12.1
9 pituitary hormone deficiency, combined, 3 11.7
10 pituitary hormone deficiency, combined, 2 11.6
11 mental retardation, x-linked, with isolated growth hormone deficiency 11.5
12 pituitary hormone deficiency, combined, 1 11.1
13 pituitary hormone deficiency, combined, 4 11.0
14 septooptic dysplasia 11.0
15 pituitary hormone deficiency, combined, 6 11.0
16 potter's syndrome 10.1 LHX3 PROP1
17 hypothyroidism, congenital, nongoitrous 4 10.1 POU1F1 PROP1
18 psychogenic movement 9.9 POU1F1 PROP1
19 renal, genital, and middle ear anomalies 9.9 HESX1 OTX2
20 sensorineural hearing loss 9.8
21 pituitary hypoplasia 9.8
22 dwarfism 9.8
23 growth hormone deficiency 9.8
24 grubben de cock borghgraef syndrome 9.8 HESX1 PROP1
25 kowarski syndrome 9.8 HESX1 POU1F1
26 optic nerve hypoplasia 9.7
27 hemangioma 9.7
28 isolated growth hormone deficiency 9.7
29 hypogonadotropic hypogonadism 9.7
30 microphthalmia 9.7
31 hypogonadism 9.7
32 cervicitis 9.7
33 kallmann syndrome 9.7
34 hypogonadotropism 9.7
35 situs inversus 9.7
36 hypopituitarism 9.7
37 48, xxxx 9.7
38 morning glory syndrome 9.7
39 pituitary stalk interruption syndrome 9.7
40 acth deficiency 9.7
41 adamantinous craniopharyngioma 9.7 POU1F1 PROP1
42 epidural spinal canal angiolipoma 9.4 HESX1 LHX3 PROP1
43 pityriasis rotunda 9.1 HESX1 LHX4 POU1F1
44 acute myeloid leukemia, susceptibility, gata2-related 9.1 HESX1 LHX3 POU1F1 PROP1
45 uterine ligament clear cell adenocarcinoma 9.1 HESX1 LHX3 POU1F1 PROP1
46 complement receptor deficiency 8.3 HESX1 LHX4 OTX2 POU1F1 PROP1
47 isolated klippel-feil syndrome 8.3 HESX1 LHX3 LHX4 POU1F1 PROP1
48 aminoacylase 1 deficiency 8.3 HESX1 LHX3 LHX4 POU1F1 PROP1
49 primary hypomagnesemia 8.3 HESX1 LHX3 LHX4 POU1F1 PROP1
50 molybdenum cofactor deficiency b 8.3 HESX1 LHX3 LHX4 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 LHX4 OTX2 POU1F1 PROP1 HESX1 LHX3
2 craniofacial MP:0005382 9.67 OTX2 POU1F1 HESX1 LHX3
3 mortality/aging MP:0010768 9.63 LHX4 OTX2 POU1F1 PROP1 HESX1 LHX3
4 hearing/vestibular/ear MP:0005377 9.56 OTX2 POU1F1 HESX1 LHX3
5 nervous system MP:0003631 9.43 LHX4 OTX2 POU1F1 PROP1 HESX1 LHX3
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 all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 4 58-18-4 6010
2
Testosterone Approved, Investigational Phase 4 58-22-0 6013
3 Hormone Antagonists Phase 4,Phase 3
4 Hormones Phase 4,Phase 3
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
6 Anabolic Agents Phase 4
7 Androgens Phase 4
8 Antineoplastic Agents, Hormonal Phase 4
9 Testosterone 17 beta-cypionate Phase 4
10
Testosterone enanthate Phase 4 315-37-7 9416
11 Testosterone undecanoate Phase 4
12 insulin Phase 3
13 Insulin, Globin Zinc Phase 3
14 Growth Hormone-Releasing Hormone Phase 3
15 arginine Nutraceutical Phase 3
16
Hydrocortisone Approved, Vet_approved 50-23-7 5754 657311
17
Zinc Approved 7440-66-6 32051 23994
18
Butyric Acid Experimental 107-92-6 264
19 Anti-Inflammatory Agents
20 Cortisol succinate
21 Gastrointestinal Agents
22 glucagon
23 Glucagon-Like Peptide 1
24 Hydrocortisone 17-butyrate 21-propionate
25 Hydrocortisone acetate
26 Hydrocortisone-17-butyrate
27 Hypoglycemic Agents
28 Incretins

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Testosterone Gel Applied to Women With Pituitary Gland Problems Completed NCT00144391 Phase 4 Transdermal Testosterone gel
2 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
3 Comparative Validation of the Growth Hormone Releasing Hormone and Arginine Test for the Diagnosis of Adult Growth Hormone Deficiency Completed NCT01060488 Phase 3
4 Tumor Classification and Its Application in Surgical Treatment of Craniopharyngioma Unknown status NCT00949156 Phase 1
5 Pegvisomant With Glucagon Test to Assess for Adult Growth Hormone Deficiency Unknown status NCT01804413 Pegvisomant;Regular insulin
6 A Prospective Observational Study of Effect of Somatropin on Growth Hormone Deficient Adults Completed NCT01088399 Somatropin (rDNA origin)
7 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, Testes, Endothelial, Testis, Hypothalamus, Bone

Publications for Combined Pituitary Hormone Deficiency

Articles related to Combined Pituitary Hormone Deficiency:

(show top 50) (show all 129)
id Title Authors Year
1
Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome. ( 28443260 )
2017
2
Pulsatile GnRH Therapy May Restore Hypothalamus-Pituitary-Testis Axis Function in Patients With Congenital Combined Pituitary Hormone Deficiency: A Prospective, Self-Controlled Trial. ( 28368486 )
2017
3
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss. ( 28302169 )
2017
4
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. ( 28356564 )
2017
5
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. ( 28734020 )
2017
6
Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. ( 28500832 )
2017
7
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. ( 27828722 )
2016
8
Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. ( 27756091 )
2016
9
Genetic causes of isolated and combined pituitary hormone deficiency. ( 27974184 )
2016
10
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency. ( 26733480 )
2016
11
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. ( 27885216 )
2016
12
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. ( 27299576 )
2016
13
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. ( 26781211 )
2016
14
Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt. ( 26970862 )
2016
15
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. ( 26111865 )
2015
16
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. ( 25678757 )
2015
17
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
18
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients. ( 26141714 )
2015
19
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. ( 26608600 )
2015
20
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. ( 26059845 )
2015
21
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. ( 26147833 )
2015
22
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
23
A novel KAL1 mutation is associated with combined pituitary hormone deficiency. ( 27081504 )
2014
24
Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency. ( 24025721 )
2014
25
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. ( 25500790 )
2014
26
Combined pituitary hormone deficiency: current and future status. ( 25200994 )
2014
27
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency. ( 24289245 )
2013
28
Developmental analysis and influence of genetic background on the Lhx3 W227ter mouse model of combined pituitary hormone deficiency disease. ( 23288907 )
2013
29
Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency. ( 22897141 )
2013
30
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
31
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. ( 23657145 )
2013
32
A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency. ( 22286346 )
2012
33
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
34
A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. ( 22715480 )
2012
35
Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. ( 22238406 )
2012
36
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. ( 22010633 )
2012
37
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
38
Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency. ( 23692781 )
2012
39
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. ( 22319038 )
2012
40
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
41
X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family. ( 22001696 )
2011
42
Novel mutations associated with combined pituitary hormone deficiency. ( 21447626 )
2011
43
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. ( 21396574 )
2011
44
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
45
A large deletion of PROP1 gene in patients with combined pituitary hormone deficiency from two unrelated Chinese pedigrees. ( 20395664 )
2010
46
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. ( 20231366 )
2010
47
A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency. ( 19856252 )
2010
48
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
49
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
50
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. ( 18854396 )
2009

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 13)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.85 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
2 positive regulation of transcription, DNA-templated GO:0045893 9.7 LHX3 OTX2 POU1F1
3 negative regulation of apoptotic process GO:0043066 9.69 LHX3 LHX4 PROP1
4 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.62 LHX3 OTX2 POU1F1 PROP1
5 animal organ morphogenesis GO:0009887 9.61 LHX3 LHX4 PROP1
6 dorsal/ventral pattern formation GO:0009953 9.49 LHX3 PROP1
7 placenta development GO:0001890 9.48 LHX3 LHX4
8 motor neuron axon guidance GO:0008045 9.46 LHX3 LHX4
9 adenohypophysis development GO:0021984 9.4 POU1F1 PROP1
10 somatotropin secreting cell differentiation GO:0060126 9.26 POU1F1 PROP1
11 transcription from RNA polymerase II promoter GO:0006366 9.26 LHX3 OTX2 POU1F1 PROP1
12 medial motor column neuron differentiation GO:0021526 9.16 LHX3 LHX4
13 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 chromatin binding GO:0003682 9.54 HESX1 POU1F1 PROP1
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.46 HESX1 LHX3 OTX2 POU1F1
3 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.43 LHX3 OTX2 POU1F1
4 DNA binding GO:0003677 9.43 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
5 RNA polymerase II transcription factor binding GO:0001085 9.32 LHX3 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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