MCID: PTT061
MIFTS: 14

Pituitary Adenoma 3, Multiple Types

Categories: Genetic diseases, Endocrine diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases

Aliases & Classifications for Pituitary Adenoma 3, Multiple Types

MalaCards integrated aliases for Pituitary Adenoma 3, Multiple Types:

Name: Pituitary Adenoma 3, Multiple Types 57 75 6
Pita3 57 75
Pituitary Adenoma 3, Multiple Types, Somatic 57

Classifications:



External Ids:

OMIM 57 617686
MedGen 42 CN495005
MeSH 44 D010911

Summaries for Pituitary Adenoma 3, Multiple Types

UniProtKB/Swiss-Prot : 75 Pituitary adenoma 3, multiple types: A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported.

MalaCards based summary : Pituitary Adenoma 3, Multiple Types, is also known as pita3. An important gene associated with Pituitary Adenoma 3, Multiple Types is GNAS (GNAS Complex Locus). Affiliated tissues include pituitary and thyroid.

OMIM : 57 Somatic mutations in the GNAS gene have been found predominantly in GH-secreting pituitary adenomas but also in ACTH-secreting adenomas. Mutations in the GNAS gene have been found in about 40% of sporadic somatotrophin adenomas (summary by Mete and Lopes, 2017). For a general description and a discussion of genetic heterogeneity of pituitary adenomas, see PITA1 (102200). (617686)

Related Diseases for Pituitary Adenoma 3, Multiple Types

Diseases in the Pituitary Adenoma family:

Pituitary Adenoma 1, Multiple Types Pituitary Adenoma 5, Multiple Types
Pituitary Adenoma 3, Multiple Types

Symptoms & Phenotypes for Pituitary Adenoma 3, Multiple Types

Clinical features from OMIM:

617686

Drugs & Therapeutics for Pituitary Adenoma 3, Multiple Types

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Peanut Oral Induction Tolerance in Peanut's Allergic Teenagers Unknown status NCT02046083 Phase 2, Phase 3 arachid

Search NIH Clinical Center for Pituitary Adenoma 3, Multiple Types

Genetic Tests for Pituitary Adenoma 3, Multiple Types

Anatomical Context for Pituitary Adenoma 3, Multiple Types

MalaCards organs/tissues related to Pituitary Adenoma 3, Multiple Types:

41
Pituitary, Thyroid

Publications for Pituitary Adenoma 3, Multiple Types

Variations for Pituitary Adenoma 3, Multiple Types

ClinVar genetic disease variations for Pituitary Adenoma 3, Multiple Types:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
2 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
3 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
4 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366
5 GNAS NM_000516.5(GNAS): c.680A> G (p.Gln227Arg) single nucleotide variant Pathogenic rs121913494 GRCh37 Chromosome 20, 57484596: 57484596
6 GNAS NM_000516.5(GNAS): c.680A> G (p.Gln227Arg) single nucleotide variant Pathogenic rs121913494 GRCh38 Chromosome 20, 58909541: 58909541
7 GNAS NM_001077488.3(GNAS): c.684G> C (p.Gln228His) single nucleotide variant Pathogenic rs137854533 GRCh37 Chromosome 20, 57484597: 57484597
8 GNAS NM_001077488.3(GNAS): c.684G> C (p.Gln228His) single nucleotide variant Pathogenic rs137854533 GRCh38 Chromosome 20, 58909542: 58909542

Cosmic variations for Pituitary Adenoma 3, Multiple Types:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM483 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 12
2 COSM27887 GNAS pituitary,NS,adenoma,GH c.601C>T p.R201C 20:58909365-58909365 12
3 COSM27896 GNAS pituitary,NS,adenoma,GH c.680A>G p.Q227R 20:58909541-58909541 12
4 COSM27899 GNAS pituitary,NS,adenoma,GH c.601C>A p.R201S 20:58909365-58909365 12
5 COSM27895 GNAS pituitary,NS,adenoma,GH c.602G>A p.R201H 20:58909366-58909366 12
6 COSM27888 GNAS pituitary,NS,adenoma,GH c.680A>T p.Q227L 20:58909541-58909541 12
7 COSM771 PIK3CA pituitary,NS,adenoma,PRL c.3073A>G p.T1025A 3:179234230-179234230 11
8 COSM760 PIK3CA pituitary,NS,adenoma,PRL c.1624G>A p.E542K 3:179218294-179218294 11
9 COSM22623 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 11
10 COSM482 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 11

Expression for Pituitary Adenoma 3, Multiple Types

Search GEO for disease gene expression data for Pituitary Adenoma 3, Multiple Types.

Pathways for Pituitary Adenoma 3, Multiple Types

GO Terms for Pituitary Adenoma 3, Multiple Types

Sources for Pituitary Adenoma 3, Multiple Types

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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