Details of Disease

General Information of Disease (ID: DISIUHNT)

Disease Name Pituitary gigantism
Synonyms gigantism; infantile and juvenile forms of acromegaly; hypophyseal gigantism
Definition
The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.
Disease Hierarchy
DISCNV73: Hyperpituitarism
DISOQRTU: Growth hormone-producing pituitary gland neoplasm
DISIUHNT: Pituitary gigantism
Disease Identifiers
MONDO ID
MONDO_0020479
MESH ID
D005877
UMLS CUI
C0017547
MedGen ID
6602
Orphanet ID
99725
SNOMED CT ID
80849007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GH1 TTT3YKH Strong Genetic Variation [1]
GPR101 TTUKZVG Strong Genetic Variation [1]
GPRC5D TTHRAPJ Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AIP OTDJ3OSV Supportive Autosomal dominant [3]
MEN1 OTN6U6V0 Supportive Autosomal dominant [3]
ANKRD26 OT2ENKKV moderate Genetic Variation [4]
GPRC5C OT45AJT3 Strong Biomarker [2]
IGSF1 OT3XD6U2 Strong Biomarker [5]
------------------------------------------------------------------------------------

References

1 Mutations in GPR101 as a potential cause of X-linked acrogigantism and acromegaly.Prog Mol Biol Transl Sci. 2019;161:47-67. doi: 10.1016/bs.pmbts.2018.10.003. Epub 2018 Nov 23.
2 An orphan G-protein-coupled receptor causes human gigantism and/or acromegaly: Molecular biology and clinical correlations.Best Pract Res Clin Endocrinol Metab. 2018 Apr;32(2):125-140. doi: 10.1016/j.beem.2018.02.004. Epub 2018 Mar 17.
3 Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients. Endocr Relat Cancer. 2015 Oct;22(5):745-57. doi: 10.1530/ERC-15-0320. Epub 2015 Jul 17.
4 A model for obesity and gigantism due to disruption of the Ankrd26 gene.Proc Natl Acad Sci U S A. 2008 Jan 8;105(1):270-5. doi: 10.1073/pnas.0710978105. Epub 2007 Dec 27.
5 Is IGSF1 involved in human pituitary tumor formation?.Endocr Relat Cancer. 2015 Feb;22(1):47-54. doi: 10.1530/ERC-14-0465. Epub 2014 Dec 19.