MCID: CMB021
MIFTS: 37

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 24 36
Panhypopituitarism 24 69
Pituitary Hormone Deficiency, Combined 28
Cphd 24

Classifications:



External Ids:

KEGG 36 H02036

Summaries for Combined Pituitary Hormone Deficiency

Genetics Home Reference : 24 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 combined pituitary hormone deficiencies, genetic forms and pituitary hormone deficiency, combined, 2. An important gene associated with Combined Pituitary Hormone Deficiency is PROP1 (PROP Paired-Like Homeobox 1). The drugs Testosterone and Methyltestosterone have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and endothelial, and related phenotypes are endocrine/exocrine gland and craniofacial

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 41)
# Related Disease Score Top Affiliating Genes
1 combined pituitary hormone deficiencies, genetic forms 31.5 HESX1 LHX4 OTX2 POU1F1 PROP1
2 pituitary hormone deficiency, combined, 2 31.0 HESX1 LHX3 LHX4 POU1F1 PROP1
3 septooptic dysplasia 30.2 HESX1 LHX3 LHX4 POU1F1 PROP1
4 growth hormone deficiency 29.6 HESX1 PROP1
5 kallmann syndrome 28.9 HESX1 LHX3 PROP1
6 pituitary stalk interruption syndrome 28.6 HESX1 LHX4 POU1F1
7 isolated growth hormone deficiency 27.9 HESX1 LHX3 LHX4 POU1F1 PROP1
8 pituitary hypoplasia 27.8 HESX1 LHX3 LHX4 OTX2 POU1F1
9 hypopituitarism 27.6 HESX1 LHX3 LHX4 POU1F1 PROP1
10 prop1-related combined pituitary hormone deficiency 12.3
11 panhypopituitarism, x-linked 12.3
12 mental retardation, x-linked, with panhypopituitarism 12.2
13 pituitary hormone deficiency, combined, 3 11.9
14 pituitary hormone deficiency, combined, 1 11.2
15 pituitary hormone deficiency, combined, 6 11.1
16 pituitary hormone deficiency, combined, 4 11.1
17 hypothyroidism, congenital, nongoitrous, 4 10.0 POU1F1 PROP1
18 neonatal thyrotoxicosis 10.0 LHX3 PROP1
19 pituitary tumors 9.9 POU1F1 PROP1
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
21 dwarfism 9.9
22 sensorineural hearing loss 9.9
23 fryns microphthalmia syndrome 9.9 HESX1 OTX2
24 isolated growth hormone deficiency, type ii 9.8 HESX1 POU1F1
25 48, xxxx 9.7
26 hemangioma 9.7
27 hypogonadotropic hypogonadism 9.7
28 morning glory syndrome 9.7
29 hypogonadotropic hypogonadism 7 with or without anosmia 9.7
30 microphthalmia 9.7
31 kabuki syndrome 1 9.7
32 cholestasis 9.7
33 optic nerve hypoplasia, bilateral 9.7
34 hypogonadism 9.7
35 cervicitis 9.7
36 hypogonadotropism 9.7
37 situs inversus 9.7
38 craniopharyngioma 9.7 POU1F1 PROP1
39 pituitary gland disease 9.3 HESX1 LHX3 POU1F1 PROP1
40 hypothyroidism due to deficient transcription factors involved in pituitary development or function 8.7 HESX1 LHX3 LHX4 POU1F1 PROP1
41 borjeson-forssman-lehmann syndrome 8.7 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.8 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
2 craniofacial MP:0005382 9.67 HESX1 LHX3 OTX2 POU1F1
3 mortality/aging MP:0010768 9.63 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
4 hearing/vestibular/ear MP:0005377 9.56 LHX3 OTX2 POU1F1 HESX1
5 nervous system MP:0003631 9.43 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
6 respiratory system MP:0005388 8.92 HESX1 LHX4 OTX2 PROP1

Drugs & Therapeutics for Combined Pituitary Hormone Deficiency

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Testosterone Approved, Investigational Phase 4 58-22-0 6013
2
Methyltestosterone Approved Phase 4 58-18-4 6010
3 Testosterone undecanoate Phase 4
4
Testosterone enanthate Phase 4 315-37-7 9416
5 Testosterone 17 beta-cypionate Phase 4
6 Anabolic Agents Phase 4
7 Androgens Phase 4
8 Hormone Antagonists Phase 4
9 Hormones Phase 4
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
11 Antineoplastic Agents, Hormonal Phase 4

Interventional clinical trials:


# 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 Tumor Classification and Its Application in Surgical Treatment of Craniopharyngioma Unknown status NCT00949156 Phase 1
4 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:

# Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 28

Anatomical Context for Combined Pituitary Hormone Deficiency

MalaCards organs/tissues related to Combined Pituitary Hormone Deficiency:

38
Pituitary, Brain, Endothelial, Hypothalamus, Testis, Liver, Bone

Publications for Combined Pituitary Hormone Deficiency

Articles related to Combined Pituitary Hormone Deficiency:

(show top 50) (show all 133)
# Title Authors Year
1
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. ( 28356564 )
2017
2
Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. ( 28500832 )
2017
3
Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome. ( 28443260 )
2017
4
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency. ( 29261175 )
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
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
7
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss. ( 28302169 )
2017
8
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency. ( 29107171 )
2017
9
A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy. ( 29026274 )
2017
10
A newborn with combined pituitary hormone deficiency developing shock and sludge. ( 29176025 )
2017
11
Genetic causes of isolated and combined pituitary hormone deficiency. ( 27974184 )
2016
12
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency. ( 26733480 )
2016
13
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. ( 27885216 )
2016
14
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. ( 27299576 )
2016
15
Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. ( 27756091 )
2016
16
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. ( 26781211 )
2016
17
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. ( 27828722 )
2016
18
Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt. ( 26970862 )
2016
19
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
20
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients. ( 26141714 )
2015
21
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. ( 25678757 )
2015
22
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. ( 26059845 )
2015
23
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. ( 26147833 )
2015
24
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. ( 26608600 )
2015
25
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. ( 26111865 )
2015
26
Combined pituitary hormone deficiency: current and future status. ( 25200994 )
2014
27
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. ( 25500790 )
2014
28
Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency. ( 24025721 )
2014
29
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
30
A novel KAL1 mutation is associated with combined pituitary hormone deficiency. ( 27081504 )
2014
31
Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency. ( 22897141 )
2013
32
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency. ( 24289245 )
2013
33
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
34
Developmental analysis and influence of genetic background on the Lhx3 W227ter mouse model of combined pituitary hormone deficiency disease. ( 23288907 )
2013
35
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. ( 23657145 )
2013
36
A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. ( 22715480 )
2012
37
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. ( 22010633 )
2012
38
Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. ( 22238406 )
2012
39
Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency. ( 23692781 )
2012
40
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
41
A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency. ( 22286346 )
2012
42
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. ( 22319038 )
2012
43
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
44
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
45
X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family. ( 22001696 )
2011
46
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
47
Novel mutations associated with combined pituitary hormone deficiency. ( 21447626 )
2011
48
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. ( 21396574 )
2011
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
A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency. ( 19856252 )
2010

Variations for Combined Pituitary Hormone Deficiency

ClinVar genetic disease variations for Combined Pituitary Hormone Deficiency:

6
# 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:

# 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)
# 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 by RNA polymerase II GO:0045944 9.72 LHX3 LHX4 OTX2 POU1F1 PROP1
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.71 HESX1 POU1F1 PROP1
4 positive regulation of transcription, DNA-templated GO:0045893 9.7 LHX3 OTX2 POU1F1
5 negative regulation of apoptotic process GO:0043066 9.69 LHX3 LHX4 PROP1
6 animal organ morphogenesis GO:0009887 9.61 LHX3 LHX4 PROP1
7 placenta development GO:0001890 9.49 LHX3 LHX4
8 dorsal/ventral pattern formation GO:0009953 9.48 LHX3 PROP1
9 motor neuron axon guidance GO:0008045 9.46 LHX3 LHX4
10 adenohypophysis development GO:0021984 9.4 POU1F1 PROP1
11 transcription by RNA polymerase II GO:0006366 9.35 LHX3 LHX4 OTX2 POU1F1 PROP1
12 somatotropin secreting cell differentiation GO:0060126 9.26 POU1F1 PROP1
13 medial motor column neuron differentiation GO:0021526 9.16 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:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.54 HESX1 POU1F1 PROP1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.46 HESX1 LHX3 OTX2 POU1F1
3 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.43 LHX3 OTX2 POU1F1
4 DNA binding GO:0003677 9.43 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
5 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.4 LHX3 LHX4
6 RNA polymerase II transcription factor binding GO:0001085 9.32 LHX3 POU1F1
7 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....