MCID: GGN002
MIFTS: 33

Gigantism

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Gigantism

MalaCards integrated aliases for Gigantism:

Name: Gigantism 20 54 70

Classifications:



External Ids:

UMLS 70 C0017547

Summaries for Gigantism

GARD : 20 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 Angiopeptin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, bone and liver.

Wikipedia : 73 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 257)
# Related Disease Score Top Affiliating Genes
1 sotos syndrome 1 32.2 GPR101 GPC3
2 pituitary adenoma 1, multiple types 31.6 PRL GH1 AIP
3 mccune-albright syndrome 31.2 PRL GH1
4 acromegaly 30.3 PRL GPR101 GHRH GH1 AIP
5 pituitary tumors 29.8 PRL GH1 AIP
6 insulin-like growth factor i 29.7 PRL GHRH GH1
7 dwarfism 29.7 GHRH GH1
8 hyperprolactinemia 29.6 PRL GHRH GH1
9 fibrous dysplasia 29.6 PRL GHRH GH1
10 carney complex variant 29.4 PRL GPR101 GHRH AIP
11 hypopituitarism 29.4 PRL GHRH GH1
12 pituitary adenoma 29.4 PRL GPR101 GHRH GH1 AIP
13 adenoma 29.4 PRL GPR101 GHRH GH1 AIP
14 growth hormone secreting pituitary adenoma 29.4 PRL GPR101 GHRH AIP
15 multiple endocrine neoplasia, type i 29.4 PRL GPR101 GHRH AIP
16 chromophobe adenoma 29.2 PRL GH1
17 diabetes insipidus 29.2 PRL GH1
18 hypothyroidism 29.2 PRL GHRH GH1
19 pituitary hormone deficiency, combined, 2 28.9 PRL GHRH GH1
20 pituitary apoplexy 28.9 PRL GH1 AIP
21 hormone producing pituitary cancer 28.9 PRL GPR101 GHRH AIP
22 pituitary adenoma, prolactin-secreting 28.8 PRL GH1 AIP
23 pituitary gland disease 28.4 PRL GPR101 GHRH GH1 AIP
24 functioning pituitary adenoma 28.2 PRL GPR101 GHRH GH1 AIP
25 beckwith-wiedemann syndrome 11.4
26 simpson-golabi-behmel syndrome, type 1 11.4
27 perlman syndrome 11.4
28 proteus syndrome 11.3
29 chromosome xq26.3 duplication syndrome 11.2
30 lipodystrophy, congenital generalized, type 2 11.2
31 macrodactyly 11.0
32 cerebral gigantism jaw cysts 11.0
33 familial isolated pituitary adenoma 10.9
34 gigantism advanced bone age hoarse cry 10.9
35 pituitary adenoma 2, growth hormone-secreting 10.9
36 lipodystrophy, congenital generalized, type 1 10.9
37 simpson-golabi-behmel syndrome 10.9
38 cowden syndrome 1 10.9
39 simpson-golabi-behmel syndrome, type 2 10.9
40 macroglossia 10.4
41 overgrowth syndrome 10.3
42 neurofibromatosis 10.3
43 hypogonadism 10.2
44 multiple endocrine neoplasia 10.1
45 hypoglycemia 10.1
46 hemihyperplasia, isolated 10.1
47 hydrocephalus 10.1
48 tuberous sclerosis 10.1
49 amenorrhea 10.1
50 lipomatosis 10.1

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

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 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
4 Interdisciplinary Pituitary Disorders Centre of Excellence: Assessment of Patient Education Tools Unknown status NCT01775332
5 Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA Recruiting NCT00461188
6 Multi-center Observational Study on the Use of a Human Bone Graft in Epiphysiodesis Recruiting NCT04067895
7 A Clinical and Genetic Investigation of Pituitary and HYPOTHALAMIC Tumors and Related Disorders Recruiting NCT00001595
8 A New Development Diagnostic Tool for ADHD: A VR Approach Enrolling by invitation NCT04337905

Search NIH Clinical Center for Gigantism

Genetic Tests for Gigantism

Anatomical Context for Gigantism

MalaCards organs/tissues related to Gigantism:

40
Pituitary, Bone, Liver, Breast, Hypothalamus, Tongue, Spleen

Publications for Gigantism

Articles related to Gigantism:

(show top 50) (show all 1303)
# 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. 61 54
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. 54 61
17242703 2007
4
McCune-Albright syndrome: growth hormone and prolactin hypersecretion. 61 54
16789626 2006
5
Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. 61 54
16532391 2006
6
Cardiac and metabolic effects of chronic growth hormone and insulin-like growth factor I excess in young adults with pituitary gigantism. 61 54
16125529 2005
7
Five-year follow-up of a 13-year-old boy with a pituitary adenoma causing gigantism--effect of octreotide therapy. 61 54
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. 61 54
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. 54 61
8550769 1996
16
Gigantism and somatostatin neurons. 54 61
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. 54 61
7909248 1994
20
Pituitary morphology of transgenic mice expressing bovine growth hormone. 61 54
8388524 1993
21
Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature. 61
33184694 2021
22
Virus-induced cell gigantism and asymmetric cell division in archaea. 61
33782110 2021
23
Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil. 61
33156432 2021
24
The largest of August Krogh animals: Physiology and biomechanics of the blue whale revisited. 61
33418052 2021
25
Gigantic Genomes Provide Empirical Tests of Transposable Element Dynamics Models. 61
33677107 2021
26
The intriguing giant deer from the Bate cave (Crete): could palaeohistological evidence question its taxonomy and nomenclature? 61
33728744 2021
27
A Case of Luscan-Lumish Syndrome: Possible Involvement of Enhanced GH Signaling. 61
33248444 2021
28
Towards an Earlier Diagnosis of Acromegaly and Gigantism. 61
33810319 2021
29
Genetics of Acromegaly and Gigantism. 61
33805450 2021
30
Positive selection and gene duplications in tumour suppressor genes reveal clues about how cetaceans resist cancer. 61
33622125 2021
31
Sotos Syndrome Presenting without Gigantism. 61
32542491 2021
32
Three-dimensional ultrastructure of giant mitochondria in human non-alcoholic fatty liver disease. 61
33558594 2021
33
Why aren't rabbits and hares larger? 61
33599290 2021
34
A shift in ontogenetic timing produced the unique sauropod skull. 61
33578446 2021
35
Putting the August Krogh principle to work in developmental physiology. 61
33137509 2021
36
Huge typical pulmonary carcinoid presented with gigantism syndrome. 61
32725474 2021
37
Pleistocene aridification underlies the evolutionary history of the Caribbean endemic, insular, giant Consolea (Opuntioideae). 61
33598914 2021
38
Biomechanical insights into the dentition of megatooth sharks (Lamniformes: Otodontidae). 61
33441828 2021
39
The X-linked acrogigantism-associated gene gpr101 is a regulator of early embryonic development and growth in zebrafish. 61
33248229 2021
40
Reconsidering the Oxygen-Temperature Hypothesis of Polar Gigantism: Successes, Failures, and Nuance. 61
32573680 2020
41
The largest known cowrie and the iterative evolution of giant cypraeid gastropods. 61
33318588 2020
42
miR-34a is upregulated in AIP-mutated somatotropinomas and promotes octreotide resistance. 61
32856736 2020
43
On the origin of giant seeds: the macroevolution of the double coconut (Lodoicea maldivica) and its relatives (Borasseae, Arecaceae). 61
32544251 2020
44
How to make a rodent giant: Genomic basis and tradeoffs of gigantism in the capybara, the world's largest rodent. 61
33169792 2020
45
Morphological divergence in giant fossil dormice. 61
33143584 2020
46
150 million years of sustained increase in pterosaur flight efficiency. 61
33116315 2020
47
Osteohistological analyses reveal diverse strategies of theropod dinosaur body-size evolution. 61
33234083 2020
48
Calving-related intradural avulsion injuries of the thoracolumbar spinal nerve roots in a calf. 61
32930085 2020
49
A legendary sumo wrestler with gigantism or acromegaly? The case of Ikezuki Geitazaemon (1827-1850). 61
33254497 2020
50
Structural basis for activation of the growth hormone-releasing hormone receptor. 61
33060564 2020

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 JAK-STAT cascade GO:0046427 9.26 PRL GH1
3 positive regulation of multicellular organism growth GO:0040018 9.16 GHRH 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....