CPHD
MCID: CMB021
MIFTS: 36

Combined Pituitary Hormone Deficiency (CPHD)

Categories: Endocrine diseases, Neuronal diseases

Aliases & Classifications for Combined Pituitary Hormone Deficiency

MalaCards integrated aliases for Combined Pituitary Hormone Deficiency:

Name: Combined Pituitary Hormone Deficiency 25 37
Pituitary Hormone Deficiency, Combined 29 6
Panhypopituitarism 25 73
Cphd 25

Classifications:



External Ids:

KEGG 37 H02036
UMLS 73 C0242343

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 pituitary hormone deficiency, combined, 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 liver, and related phenotypes are endocrine/exocrine gland and growth/size/body region

Wikipedia : 76 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 185)
# Related Disease Score Top Affiliating Genes
1 combined pituitary hormone deficiencies, genetic forms 32.6 HESX1 LHX4 OTX2 POU1F1 PROP1
2 pituitary hormone deficiency, combined, 2 32.4 HESX1 LHX3 LHX4 POU1F1 PROP1
3 septooptic dysplasia 31.5 HESX1 LHX3 LHX4 POU1F1 PROP1
4 pituitary hormone deficiency, combined, 1 31.4 HESX1 LHX3 LHX4 POU1F1
5 craniopharyngioma 29.9 POU1F1 PROP1
6 isolated growth hormone deficiency 29.8 HESX1 POU1F1 PROP1
7 hypothyroidism 29.6 HESX1 LHX3 POU1F1 PROP1
8 kallmann syndrome 29.5 HESX1 LHX3 PROP1
9 pituitary stalk interruption syndrome 29.4 HESX1 LHX4 POU1F1
10 pituitary gland disease 29.0 HESX1 LHX3 POU1F1 PROP1
11 pituitary hypoplasia 29.0 HESX1 LHX3 LHX4 OTX2 POU1F1
12 hypopituitarism 29.0 HESX1 LHX3 LHX4 POU1F1 PROP1
13 prop1-related combined pituitary hormone deficiency 12.5
14 panhypopituitarism, x-linked 12.5
15 mental retardation, x-linked, with panhypopituitarism 12.4
16 pituitary hormone deficiency, combined, 3 12.0
17 sheehan syndrome 11.4
18 winkelman bethge pfeiffer syndrome 11.3
19 pituitary hormone deficiency, combined, 4 11.2
20 microphthalmia, syndromic 5 11.2
21 pituitary hormone deficiency, combined, 6 11.2
22 pallister-hall syndrome 11.0
23 bile acid synthesis defect, congenital, 2 11.0
24 holoprosencephaly 9 11.0
25 hypothalamic disease 11.0
26 diabetes insipidus 10.4
27 lymphoma 10.2
28 empty sella syndrome 10.0
29 neonatal thyrotoxicosis 10.0 LHX3 PROP1
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
31 sensorineural hearing loss 10.0
32 cholestasis 10.0
33 dwarfism 10.0
34 growth hormone deficiency 10.0
35 breast cancer 10.0
36 pituitary apoplexy 10.0
37 conn's syndrome 10.0
38 hypothyroidism, congenital, nongoitrous, 4 10.0 POU1F1 PROP1
39 intracranial aneurysm 9.9
40 meningitis 9.9
41 hemorrhagic fever 9.9
42 pituitary tumors 9.9 POU1F1 PROP1
43 isolated growth hormone deficiency, type ii 9.9 HESX1 POU1F1
44 hypogonadotropic hypogonadism 7 with or without anosmia 9.9
45 kabuki syndrome 1 9.9
46 optic nerve hypoplasia, bilateral 9.9
47 alopecia, neurologic defects, and endocrinopathy syndrome 9.9
48 hypogonadotropic hypogonadism 9.9
49 microphthalmia 9.9
50 hypogonadism 9.9

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.85 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
2 growth/size/body region MP:0005378 9.72 HESX1 LHX3 OTX2 POU1F1 PROP1
3 craniofacial MP:0005382 9.71 HESX1 LHX3 OTX2 POU1F1
4 mortality/aging MP:0010768 9.63 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
5 hearing/vestibular/ear MP:0005377 9.56 HESX1 LHX3 OTX2 POU1F1
6 nervous system MP:0003631 9.43 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
7 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 Approved, Investigational Phase 4 5949-44-0
4
Testosterone enanthate Approved Phase 4 315-37-7 9416
5 Antineoplastic Agents, Hormonal Phase 4
6 Testosterone 17 beta-cypionate Phase 4
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
8 Hormone Antagonists Phase 4
9 Androgens Phase 4
10 Anabolic Agents Phase 4
11 Hormones 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
4 An Investigation of Pituitary Tumors and Related Hypothalmic Disorders Recruiting NCT00001595
5 Prospective Pilot Study Identifying Clinically Relevant Biological Targets for Medical Therapy Recruiting NCT03610906
6 Local Control, Quality of Life and Toxicities in Adults With Benign or Indolent Brain Tumors Undergoing Proton Radiation Therapy Recruiting NCT03286335 Not Applicable
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:

# 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:

41
Pituitary, Brain, Liver, Lung, Thyroid, B Cells, Myeloid

Publications for Combined Pituitary Hormone Deficiency

Articles related to Combined Pituitary Hormone Deficiency:

(show top 50) (show all 127)
# Title Authors Year
1
Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency. ( 30262920 )
2018
2
Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms. ( 30460459 )
2018
3
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): evidence for a pathogenic effect by functional characterization. ( 30548673 )
2018
4
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency. ( 29261175 )
2017
5
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
6
Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome. ( 28443260 )
2017
7
Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. ( 28500832 )
2017
8
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. ( 28356564 )
2017
9
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss. ( 28302169 )
2017
10
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency. ( 29107171 )
2017
11
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
12
A newborn with combined pituitary hormone deficiency developing shock and sludge. ( 29176025 )
2017
13
A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy. ( 29026274 )
2017
14
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. ( 27828722 )
2016
15
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. ( 26781211 )
2016
16
Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. ( 27756091 )
2016
17
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. ( 27885216 )
2016
18
Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt. ( 26970862 )
2016
19
Genetic causes of isolated and combined pituitary hormone deficiency. ( 27974184 )
2016
20
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency. ( 26733480 )
2016
21
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. ( 27299576 )
2016
22
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. ( 26608600 )
2015
23
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
24
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. ( 26111865 )
2015
25
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. ( 26147833 )
2015
26
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients. ( 26141714 )
2015
27
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. ( 26059845 )
2015
28
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. ( 25678757 )
2015
29
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. ( 25500790 )
2014
30
Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency. ( 24025721 )
2014
31
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
32
A novel KAL1 mutation is associated with combined pituitary hormone deficiency. ( 27081504 )
2014
33
Combined pituitary hormone deficiency: current and future status. ( 25200994 )
2014
34
Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency. ( 22897141 )
2013
35
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
36
Developmental analysis and influence of genetic background on the Lhx3 W227ter mouse model of combined pituitary hormone deficiency disease. ( 23288907 )
2013
37
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. ( 23657145 )
2013
38
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency. ( 24289245 )
2013
39
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
40
A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency. ( 22286346 )
2012
41
Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. ( 22238406 )
2012
42
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
43
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. ( 22010633 )
2012
44
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. ( 22319038 )
2012
45
Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency. ( 23692781 )
2012
46
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
47
A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. ( 22715480 )
2012
48
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
49
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
50
Novel mutations associated with combined pituitary hormone deficiency. ( 21447626 )
2011

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
2 PROP1 NM_006261.4(PROP1): c.301_302delAG (p.Leu102Cysfs) deletion Pathogenic rs193922688 GRCh38 Chromosome 5, 177994146: 177994147
3 PROP1 NM_006261.4(PROP1): c.46C> T (p.Arg16Ter) single nucleotide variant Likely pathogenic rs140016178 GRCh37 Chromosome 5, 177422889: 177422889
4 PROP1 NM_006261.4(PROP1): c.46C> T (p.Arg16Ter) single nucleotide variant Likely pathogenic rs140016178 GRCh38 Chromosome 5, 177995888: 177995888
5 POU1F1 NM_000306.3(POU1F1): c.143-4A> T single nucleotide variant Benign rs35893626 GRCh37 Chromosome 3, 87322572: 87322572
6 POU1F1 NM_000306.3(POU1F1): c.143-4A> T single nucleotide variant Benign rs35893626 GRCh38 Chromosome 3, 87273422: 87273422
7 PROP1 NM_006261.4(PROP1): c.174G> A (p.Pro58=) single nucleotide variant Benign/Likely benign rs2233784 GRCh37 Chromosome 5, 177421275: 177421275
8 PROP1 NM_006261.4(PROP1): c.174G> A (p.Pro58=) single nucleotide variant Benign/Likely benign rs2233784 GRCh38 Chromosome 5, 177994274: 177994274
9 PROP1 NM_006261.4(PROP1): c.359G> A (p.Arg120His) single nucleotide variant Likely pathogenic rs769171020 GRCh38 Chromosome 5, 177993031: 177993031
10 PROP1 NM_006261.4(PROP1): c.359G> A (p.Arg120His) single nucleotide variant Likely pathogenic rs769171020 GRCh37 Chromosome 5, 177420032: 177420032

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 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.77 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 regulation of transcription, DNA-templated GO:0006355 9.63 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
5 animal organ morphogenesis GO:0009887 9.61 LHX3 LHX4 PROP1
6 placenta development GO:0001890 9.49 LHX3 LHX4
7 dorsal/ventral pattern formation GO:0009953 9.48 LHX3 PROP1
8 motor neuron axon guidance GO:0008045 9.46 LHX3 LHX4
9 adenohypophysis development GO:0021984 9.4 POU1F1 PROP1
10 transcription by RNA polymerase II GO:0006366 9.35 LHX3 LHX4 OTX2 POU1F1 PROP1
11 somatotropin secreting cell differentiation GO:0060126 9.32 POU1F1 PROP1
12 medial motor column neuron differentiation GO:0021526 9.26 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:

# 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 9.58 HESX1 POU1F1 PROP1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 HESX1 LHX3 OTX2 POU1F1
4 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.5 LHX3 OTX2 POU1F1
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1
6 RNA polymerase II transcription factor binding GO:0001085 9.37 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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