Details of Disease

General Information of Disease (ID: DISLQY5A)

Disease Name Pituitary adenoma, growth hormone-secreting, 2
Synonyms
PAGH2; acromegaly, X-linked; PITA2; pituitary adenoma 2, Growth hormone-secreting; acromegaly due to pituitary adenoma 2; pituitary adenoma 2, growth hormone-secreting; pituitary adenoma, growth hormone-secreting, 2; pituitary gland adenoma caused by mutation in GPR101; pituitary adenoma 2, GH-secreting; GPR101 pituitary gland adenoma; pituitary adenoma, Growth hormone-secreting, type 2
Definition Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene.
Disease Hierarchy
DISNEVYF: Familial isolated pituitary adenoma
DISLQY5A: Pituitary adenoma, growth hormone-secreting, 2
Disease Identifiers
MONDO ID
MONDO_0010492
UMLS CUI
C4012409
OMIM ID
300943
MedGen ID
860846

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GPR101 TTUKZVG moderate Genetic Variation [1]
GPR101 TTUKZVG Strong X-linked [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GPR101 OT73CP7R Strong X-linked [2]
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References

1 Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.N Engl J Med. 2014 Dec 18;371(25):2363-74. doi: 10.1056/NEJMoa1408028. Epub 2014 Dec 3.
2 Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun. 2016 Jun 1;4(1):56. doi: 10.1186/s40478-016-0328-1.