Gigantism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: GGN002 MIFTS: 33	Gigantism Categories: Endocrine diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Gigantism

MalaCards integrated aliases for Gigantism:

Name: Gigantism ²⁰ ⁵⁴ ⁷⁰

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁰ C0017547

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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...

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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:

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Symptoms & Phenotypes for Gigantism

UMLS symptoms related to Gigantism:

endocrine system signs and symptoms

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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

lanreotide

Approved

Phase 4

108736-35-2

Angiopeptin

Phase 4

Hormones

Phase 4

Liver Extracts

Phase 4

Somatostatin

Approved, Investigational

Phase 3

38916-34-6, 51110-01-1

53481605

Synonyms:

(5S,8R,14R,17R,20R,23R,26R,29R,32R,35R)-38-[(2-{[(2R)-2-amino-1-hydroxypropylidene]amino}-1-hydroxyethylidene)amino]-20,35-bis(4-aminobutyl)-14,26,29-tribenzyl-7,10,13,16,19,22,25,28,31,34,37-undecahydroxy-32-[(C-hydroxycarbonimidoyl)methyl]-11-(1-hydroxyethyl)-17-[(1S)-1-hydroxyethyl]-8-(hydroxymethyl)-23-[(1H-indol-3-yl)methyl]-1,2-dithia-6,9,12,15,18,21,24,27,30,33,36-undecaazacyclononatriaconta-6,9,12,15,18,21,24,27,30,33,36-undecaene-5-carboxylate

Growth hormone-inhibiting hormone (ghih)

Somatostatin

Somatostatina

Somatostatine

Somatostatinum

Somatotropin release-inhibiting factor (srif)

Somatotropin release-inhibiting hormone

Synthetic growth hormone release-inhibiting hormone

Synthetic somatostatin-14

Pasireotide

Approved

Phase 3

396091-73-9

9941444

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

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Genetic Tests for Gigantism

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Anatomical Context for Gigantism

MalaCards organs/tissues related to Gigantism:

⁴⁰

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

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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	Cazabat L...Raffin-Sanson ML	17609395	2007
2	The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas. ⁶¹ ⁵⁴	Iwata T...Yoshimoto K	17371465	2007
3	Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers. ⁵⁴ ⁶¹	Georgitsi M...Aaltonen LA	17242703	2007
4	McCune-Albright syndrome: growth hormone and prolactin hypersecretion. ⁶¹ ⁵⁴	Christoforidis A...Stanhope R	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	Bliek J...Mannens M	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	Bondanelli M...degli Uberti EC	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	Schoof E...Dotsch J	14739526	2004
8	Regulation of human growth hormone secretion and its disorders. ⁵⁴ ⁶¹	Kato Y...Nishiki M	11838603	2002
9	[Gigantism with low serum level of growth hormone: a case report]. ⁶¹ ⁵⁴	Ran X...Li X	12528568	2001
10	Long-acting peptidomimergic control of gigantism caused by pituitary acidophilic stem cell adenoma. ⁶¹ ⁵⁴	Maheshwari HG...Melmed S	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	Veugelers M...David G	10814714	2000
12	A case of atypical McCune-Albright syndrome requiring optic nerve decompression. ⁵⁴ ⁶¹	Yavuzer R...Audet B	10517473	1999
13	Gps mutations in Chilean patients harboring growth hormone-secreting pituitary tumors. ⁵⁴ ⁶¹	Johnson MC...Cassorla F	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	Huber R...Pilia G	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	Yoshida T...Tanaka T	8550769	1996
16	Gigantism and somatostatin neurons. ⁵⁴ ⁶¹	Dalrymple AM	7760191	1995
17	Acromegalic gigantism with low serum level of growth hormone and elevated serum insulin-like growth factor-I. ⁶¹ ⁵⁴	Miyazaki R...Sano T	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	Stefaneanu L...Kovacs K	7604674	1995
19	Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27. ⁵⁴ ⁶¹	Xuan JY...MacKenzie AE	7909248	1994
20	Pituitary morphology of transgenic mice expressing bovine growth hormone. ⁶¹ ⁵⁴	Stefaneanu L...Wagner TE	8388524	1993
21	Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature. ⁶¹	Elizabeth MSM...de Graaff LCG	33184694	2021
22	Virus-induced cell gigantism and asymmetric cell division in archaea. ⁶¹	Liu J...Krupovic M	33782110	2021
23	Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil. ⁶¹	Trarbach EB...Jallad RS	33156432	2021
24	The largest of August Krogh animals: Physiology and biomechanics of the blue whale revisited. ⁶¹	Goldbogen JA...Madsen PT	33418052	2021
25	Gigantic Genomes Provide Empirical Tests of Transposable Element Dynamics Models. ⁶¹	Wang J...Lockridge Mueller R	33677107	2021
26	The intriguing giant deer from the Bate cave (Crete): could palaeohistological evidence question its taxonomy and nomenclature? ⁶¹	Palombo MR...Zedda M	33728744	2021
27	A Case of Luscan-Lumish Syndrome: Possible Involvement of Enhanced GH Signaling. ⁶¹	Suda K...Takahashi Y	33248444	2021
28	Towards an Earlier Diagnosis of Acromegaly and Gigantism. ⁶¹	Sisco J...van der Lely AJ	33810319	2021
29	Genetics of Acromegaly and Gigantism. ⁶¹	Boguslawska A...Korbonits M	33805450	2021
30	Positive selection and gene duplications in tumour suppressor genes reveal clues about how cetaceans resist cancer. ⁶¹	Tejada-Martinez D...Opazo JC	33622125	2021
31	Sotos Syndrome Presenting without Gigantism. ⁶¹	Gowda VK...Benakappa N	32542491	2021
32	Three-dimensional ultrastructure of giant mitochondria in human non-alcoholic fatty liver disease. ⁶¹	Shami GJ...Braet F	33558594	2021
33	Why aren't rabbits and hares larger? ⁶¹	Tomiya S...Miller LK	33599290	2021
34	A shift in ontogenetic timing produced the unique sauropod skull. ⁶¹	Fabbri M...Bhullar BA	33578446	2021
35	Putting the August Krogh principle to work in developmental physiology. ⁶¹	Burggren WW	33137509	2021
36	Huge typical pulmonary carcinoid presented with gigantism syndrome. ⁶¹	Beshay M...Mertzlufft F	32725474	2021
37	Pleistocene aridification underlies the evolutionary history of the Caribbean endemic, insular, giant Consolea (Opuntioideae). ⁶¹	Majure LC...Negron-Ortiz V	33598914	2021
38	Biomechanical insights into the dentition of megatooth sharks (Lamniformes: Otodontidae). ⁶¹	Ballell A...Ferron HG	33441828	2021
39	The X-linked acrogigantism-associated gene gpr101 is a regulator of early embryonic development and growth in zebrafish. ⁶¹	Trivellin G...Stratakis CA	33248229	2021
40	Reconsidering the Oxygen-Temperature Hypothesis of Polar Gigantism: Successes, Failures, and Nuance. ⁶¹	Woods HA...Moran AL	32573680	2020
41	The largest known cowrie and the iterative evolution of giant cypraeid gastropods. ⁶¹	Dominici S...Giusberti L	33318588	2020
42	miR-34a is upregulated in AIP-mutated somatotropinomas and promotes octreotide resistance. ⁶¹	Bogner EM...Pellegata NS	32856736	2020
43	On the origin of giant seeds: the macroevolution of the double coconut (Lodoicea maldivica) and its relatives (Borasseae, Arecaceae). ⁶¹	Bellot S...Baker WJ	32544251	2020
44	How to make a rodent giant: Genomic basis and tradeoffs of gigantism in the capybara, the world's largest rodent. ⁶¹	Herrera-Alvarez S...Crawford AJ	33169792	2020
45	Morphological divergence in giant fossil dormice. ⁶¹	Hennekam JJ...Cox PG	33143584	2020
46	150 million years of sustained increase in pterosaur flight efficiency. ⁶¹	Venditti C...Humphries S	33116315	2020
47	Osteohistological analyses reveal diverse strategies of theropod dinosaur body-size evolution. ⁶¹	Cullen TM...Makovicky PJ	33234083	2020
48	Calving-related intradural avulsion injuries of the thoracolumbar spinal nerve roots in a calf. ⁶¹	Nishiura H...Ochiai K	32930085	2020
49	A legendary sumo wrestler with gigantism or acromegaly? The case of Ikezuki Geitazaemon (1827-1850). ⁶¹	Takada K...Hayakawa S	33254497	2020
50	Structural basis for activation of the growth hormone-releasing hormone receptor. ⁶¹	Zhou F...Wang MW	33060564	2020

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Genes for Gigantism

Genes related to Gigantism (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AIP	Aryl Hydrocarbon Receptor Interacting Protein	Protein Coding	17.24	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	17371465 17609395
2	GPC3	Glypican 3	Protein Coding	15.79	Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders (show sections)	7909248 9339360 10814714
3	GPR101	G Protein-Coupled Receptor 101	Protein Coding	15.6	GeneCards inferred via : Disorders Publications (show sections)
4	GHRH	Growth Hormone Releasing Hormone	Protein Coding	15.23	GeneCards inferred via : Publications Summaries (show sections)
5	PRL	Prolactin	Protein Coding	15.21	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	10517473 17242703
6	GH1	Growth Hormone 1	Protein Coding	15.07	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	11838603 16789626 10999842 (more) 8388524

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Variations for Gigantism

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Expression for Gigantism

Search GEO for disease gene expression data for Gigantism.

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Pathways for Gigantism

Pathways related to Gigantism according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Growth hormone receptor signaling ⁶⁵ Show member pathways Prolactin receptor signaling ⁶⁵	10.24	PRL GH1

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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

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Sources for Gigantism

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia