MCID: GGN002
MIFTS: 33

Gigantism

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Gigantism

MalaCards integrated aliases for Gigantism:

Name: Gigantism 52 54 71

Classifications:



External Ids:

UMLS 71 C0017547

Summaries for Gigantism

NIH Rare Diseases : 52 Gigantism is abnormally large growth due to an excess of growth hormone (GH) during childhood, before the bone growth plates have closed (epiphyseal fusion). It causes excessive growth in height, muscles, and organs , making the child extremely large for his or her age. Other symptoms may include delayed puberty ; double vision or difficulty with side (peripheral) vision; prominent forehead (frontal bossing ) and a prominent jaw; headache; increased sweating (hyperhidrosis ); irregular periods; large hands and feet with thick fingers and toes; thickening of the facial features; and weakness. It may begin at any age before epiphyseal fusion. The most common cause is a non-cancerous (benign) tumor of the pituitary gland , which may cause it to make too much GH, but it can be caused by other underlying conditions (which may cause a pituitary tumor) including Carney complex ; McCune-Albright syndrome ; Multiple endocrine neoplasia type 1 (MEN-1) and type 4 ; and Neurofibromatosis . In some cases the disease is caused by mutations in the GPR101 gene . Treatment typically includes surgery to remove the tumor and can cure many cases. Medication or radiation therapy may be used to reduce GH release or block the effect of GH. If the condition occurs after normal bone growth has stopped (in adulthood), it is referred to as acromegaly .

MalaCards based summary : Gigantism is related to sotos syndrome 1 and pituitary adenoma 1, multiple types, and has symptoms including endocrine system signs and symptoms An important gene associated with Gigantism is AIP (Aryl Hydrocarbon Receptor Interacting Protein), and among its related pathways/superpathways is Growth hormone receptor signaling. The drugs lanreotide and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and breast.

Wikipedia : 74 Gigantism (Greek γίγας, gígas, "giant", plural γίγαντες, gígantes), also known as giantism, is a... more...

Related Diseases for Gigantism

Diseases related to Gigantism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 446)
# Related Disease Score Top Affiliating Genes
1 sotos syndrome 1 33.2 GPR101 GPC3
2 pituitary adenoma 1, multiple types 32.6 PRL GH1 AIP
3 mccune-albright syndrome 31.5 PRL GPR101 GH1
4 acromegaly 30.8 PRL GPR101 GHRH GH1 AIP
5 dwarfism 29.9 GHRH GH1
6 insulin-like growth factor i 29.5 PRL GHRH GH1
7 pituitary tumors 29.5 PRL GH1 AIP
8 hyperprolactinemia 29.4 PRL GHRH GH1
9 fibrous dysplasia 29.4 PRL GHRH GH1
10 hypoglycemia 29.3 PRL GHRH GH1
11 hypopituitarism 29.3 PRL GHRH GH1
12 diabetes insipidus 29.2 PRL GH1
13 gangliocytoma 29.2 PRL GHRH
14 chromophobe adenoma 29.2 PRL GH1
15 isolated growth hormone deficiency 29.2 GPR101 GHRH GH1
16 hypothyroidism 29.0 PRL GHRH GH1
17 adenoma 28.9 PRL GPR101 GHRH GH1 AIP
18 pituitary adenoma 28.8 PRL GPR101 GHRH GH1 AIP
19 pituitary hormone deficiency, combined, 2 28.7 PRL GHRH GH1
20 carney complex variant 28.7 PRL GPR101 GHRH AIP
21 turner syndrome 28.7 PRL GHRH GH1
22 multiple endocrine neoplasia, type i 28.6 PRL GPR101 GHRH AIP
23 pituitary apoplexy 28.6 PRL GH1 AIP
24 pituitary adenoma, prolactin-secreting 28.5 PRL GH1 AIP
25 growth hormone secreting pituitary adenoma 28.4 PRL GPR101 GHRH AIP
26 hormone producing pituitary cancer 28.2 PRL GPR101 GHRH AIP
27 pituitary gland disease 27.8 PRL GPR101 GHRH GH1 AIP
28 functioning pituitary adenoma 27.6 PRL GPR101 GHRH GH1 AIP
29 cerebral gigantism jaw cysts 12.2
30 gigantism advanced bone age hoarse cry 12.2
31 beckwith-wiedemann syndrome 12.2
32 simpson-golabi-behmel syndrome, type 1 12.2
33 perlman syndrome 12.1
34 chromosome xq26.3 duplication syndrome 11.9
35 proteus syndrome 11.8
36 macrodactyly 11.6
37 familial isolated pituitary adenoma 11.5
38 pituitary adenoma 2, growth hormone-secreting 11.5
39 lipodystrophy, congenital generalized, type 1 11.5
40 lipodystrophy, congenital generalized, type 2 11.5
41 cowden syndrome 1 11.2
42 simpson-golabi-behmel syndrome, type 2 11.2
43 simpson-golabi-behmel syndrome 11.2
44 macroglossia 10.4
45 aneurysm 10.4
46 neurofibromatosis 10.4
47 overgrowth syndrome 10.4
48 hemangioma 10.3
49 hydronephrosis 10.2
50 lipomatosis, multiple 10.2

Graphical network of the top 20 diseases related to Gigantism:



Diseases related to Gigantism

Symptoms & Phenotypes for Gigantism

UMLS symptoms related to Gigantism:


endocrine system signs and symptoms

Drugs & Therapeutics for Gigantism

Drugs for Gigantism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
lanreotide Approved Phase 4 108736-35-2
2 Hormones Phase 4
3 Angiopeptin Phase 4
4 Liver Extracts Phase 4
5
Pasireotide Approved Phase 3 396091-73-9 9941444
6
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
7 Hormone Antagonists Phase 3
8 Anesthetics
9 Sildenafil Citrate 171599-83-0

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study of Pre- and Post-operative Somatuline Depot Therapy in Acromegalic Patients Treated by Endonasal Endoscopic Surgery: Impact on Early Remission Rates and Perioperative Morbidity Terminated NCT01861717 Phase 4 lanreotide
2 A Phase IIIb Multicenter, Open-label, Single Arm Study to Evaluate the Efficacy and Safety of Pasireotide in Patients With Acromegaly Inadequately Controlled With First Generation Somatostatin Analogues Completed NCT02354508 Phase 3 Pasireotide LAR
3 An Open-Label Phase 3 Study of the Safety and Efficacy of Pegvisomant in Children With Growth Hormone Excess Recruiting NCT03882034 Phase 3 Pegvisomant
4 A Multicenter, Open-label, Randomized, Phase II Study to Evaluate Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Pasireotide LAR in Japanese Patients With Active Acromegaly or Pituitary Gigantism Completed NCT01673646 Phase 2 Pasireotide LAR
5 Interdisciplinary Pituitary Disorders Centre of Excellence: Assessment of Patient Education Tools Unknown status NCT01775332
6 Multi-center Observational Study on the Use of a Human Bone Graft in Epiphysiodesis Recruiting NCT04067895
7 Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA Recruiting NCT00461188
8 Clinical Trial With Random Assignment to Evaluate the Efficacy and Safety of Radial Waves for the Treatment of Erectile Dysfunction Recruiting NCT03596047
9 A Clinical and Genetic Investigation of Pituitary and HYPOTHALAMIC Tumors and Related Disorders Recruiting NCT00001595
10 Epidemiology of Pituitary Tumours: Prevalence of Associated Endocrine and Non-endocrine Tumours and Potential Implications in the Management and Follow-up of Patients" Not yet recruiting NCT03973450

Search NIH Clinical Center for Gigantism

Genetic Tests for Gigantism

Anatomical Context for Gigantism

MalaCards organs/tissues related to Gigantism:

40
Pituitary, Bone, Breast, Liver, Testes, Skin, Brain

Publications for Gigantism

Articles related to Gigantism:

(show top 50) (show all 1265)
# Title Authors PMID Year
1
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas. 54 61
17609395 2007
2
The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas. 61 54
17371465 2007
3
Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers. 61 54
17242703 2007
4
McCune-Albright syndrome: growth hormone and prolactin hypersecretion. 54 61
16789626 2006
5
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. 54 61
16532391 2006
6
Cardiac and metabolic effects of chronic growth hormone and insulin-like growth factor I excess in young adults with pituitary gigantism. 54 61
16125529 2005
7
Five-year follow-up of a 13-year-old boy with a pituitary adenoma causing gigantism--effect of octreotide therapy. 54 61
14739526 2004
8
Regulation of human growth hormone secretion and its disorders. 54 61
11838603 2002
9
[Gigantism with low serum level of growth hormone: a case report]. 61 54
12528568 2001
10
Long-acting peptidomimergic control of gigantism caused by pituitary acidophilic stem cell adenoma. 54 61
10999842 2000
11
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. 61 54
10814714 2000
12
A case of atypical McCune-Albright syndrome requiring optic nerve decompression. 54 61
10517473 1999
13
Gps mutations in Chilean patients harboring growth hormone-secreting pituitary tumors. 54 61
10821217 1999
14
Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5'-promoter and 3'-terminal ends of the human glypican 3 (GPC3) gene. 61 54
9339360 1997
15
Growth hormone (GH) secretory dynamics in a case of acromegalic gigantism associated with hyperprolactinemia: nonpulsatile secretion of GH may induce elevated insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 levels. 61 54
8550769 1996
16
Gigantism and somatostatin neurons. 61 54
7760191 1995
17
Acromegalic gigantism with low serum level of growth hormone and elevated serum insulin-like growth factor-I. 61 54
7787324 1995
18
Adenohypophysial morphology in transgenic dwarf mice with cerebral production of human growth hormone. An immunocytochemical, in situ hybridization and ultrastructural study. 61 54
7604674 1995
19
Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27. 61 54
7909248 1994
20
Pituitary morphology of transgenic mice expressing bovine growth hormone. 54 61
8388524 1993
21
Sotos Syndrome Presenting without Gigantism. 61
32542491 2020
22
Reconsidering the oxygen-temperature hypothesis of polar gigantism: successes, failures, and nuance. 61
32573680 2020
23
Giant Island Mice Exhibit Widespread Gene Expression Changes in Key Metabolic Organs. 61
32531054 2020
24
The Earliest Ursine Bear Demonstrates the Origin of Plant-Dominated Omnivory in Carnivora. 61
32559731 2020
25
On the origin of giant seeds: the macroevolution of the double coconut (Lodoicea maldivica) and its relatives (Borasseae, Arecaceae). 61
32544251 2020
26
A giant soft-shelled egg from the Late Cretaceous of Antarctica. 61
32555453 2020
27
Domestication of aromatic medicinal plants in Mexico: Agastache (Lamiaceae)-an ethnobotanical, morpho-physiological, and phytochemical analysis. 61
32357896 2020
28
Potential markers of disease behavior in acromegaly and gigantism. 61
32372673 2020
29
GPR101, an orphan GPCR with roles in growth and pituitary tumorigenesis. 61
32240984 2020
30
Large-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literature. 61
32336638 2020
31
Phenotypic and genotypic features of a large kindred with a germline AIP variant. 61
32324286 2020
32
Spinal Deformity in Sotos Syndrome: First Results of Growth-Friendly Spine Surgery. 61
32282622 2020
33
Clinical and Molecular Update on Genetic Causes of Pituitary Adenomas. 61
32299111 2020
34
Pituitary gigantism: a rare learning opportunity. 61
30948480 2020
35
Forelimb shortening of Carcharodontosauria (Dinosauria: Theropoda): an update on evolutionary anterior micromelias in non-avian theropods. 61
32088525 2020
36
How frequent is double pathology in Rasmussen encephalitis? 61
31854297 2020
37
Hereditary acromegalic gigantism in the family of Roman Emperor Maximinus Thrax. 61
32044677 2020
38
From dwarves to giants: South American's contribution to the history of growth hormone and related disorders. 61
31864177 2020
39
The roles of AIP and GPR101 in familial isolated pituitary adenomas (FIPA). 61
32083999 2020
40
50 Years Ago in TheJournal ofPediatrics: Cerebral Gigantism: Concentrations of Amino Acids in Plasma and Muscle. 61
31843120 2020
41
Sexual Size Dimorphism: Evolution and Perils of Extreme Phenotypes in Spiders. 61
31573828 2020
42
Articulated remains of the extinct shark Ptychodus (Elasmobranchii, Ptychodontidae) from the Upper Cretaceous of Spain provide insights into gigantism, growth rate and life history of ptychodontid sharks. 61
32320430 2020
43
A draft genome sequence of the elusive giant squid, Architeuthis dux. 61
31942620 2020
44
Histology and microscopic anatomy of the thyroid gland during the larval development of Pseudis platensis (Anura, Hylidae). 61
31758586 2020
45
Management, morphological and genetic diversity of domesticated agaves in Michoacán, México. 61
31948439 2020
46
Why whales are big but not bigger: Physiological drivers and ecological limits in the age of ocean giants. 61
31831666 2019
47
The phylogenetic significance of the morphology of the syrinx, hyoid and larynx, of the southern cassowary, Casuarius casuarius (Aves, Palaeognathae). 61
31881941 2019
48
Anatomical similarity between the Sost-knockout mouse and sclerosteosis in humans. 61
31729194 2019
49
Acromegaly in Carney complex. 61
31264077 2019
50
Surgery for Pediatric Pituitary Adenomas. 61
31471053 2019

Variations for Gigantism

Expression for Gigantism

Search GEO for disease gene expression data for Gigantism.

Pathways for Gigantism

Pathways related to Gigantism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.24 PRL GH1

GO Terms for Gigantism

Cellular components related to Gigantism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.62 PRL GH1

Biological processes related to Gigantism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to nutrient levels GO:0031667 9.32 PRL GH1
2 positive regulation of multicellular organism growth GO:0040018 9.26 GHRH GH1
3 positive regulation of JAK-STAT cascade GO:0046427 9.16 PRL GH1
4 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 8.96 PRL GH1
5 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.62 GHRH GH1

Molecular functions related to Gigantism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 PRL GHRH GH1
2 prolactin receptor binding GO:0005148 8.62 PRL GH1

Sources for Gigantism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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