PITA3
MCID: PTT061
MIFTS: 19

Pituitary Adenoma 3, Multiple Types (PITA3)

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

Aliases & Classifications for Pituitary Adenoma 3, Multiple Types

MalaCards integrated aliases for Pituitary Adenoma 3, Multiple Types:

Name: Pituitary Adenoma 3, Multiple Types 58 76 6
Pita3 58 76
Pituitary Adenoma 3, Multiple Types, Somatic 58

Classifications:



External Ids:

OMIM 58 617686
MeSH 45 D010911
MedGen 43 CN495005

Summaries for Pituitary Adenoma 3, Multiple Types

UniProtKB/Swiss-Prot : 76 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, thyroid and bone.

OMIM : 58 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:

42
Pituitary, Thyroid, Bone

Publications for Pituitary Adenoma 3, Multiple Types

Articles related to Pituitary Adenoma 3, Multiple Types:

(show all 12)
# Title Authors Year
1
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. ( 24855271 )
2014
2
Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor? ( 16507630 )
2006
3
Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. ( 12970318 )
2003
4
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. ( 12727968 )
2003
5
Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors. ( 9626141 )
1998
6
Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients. ( 8766942 )
1996
7
Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. ( 7739708 )
1995
8
G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas. ( 7737262 )
1995
9
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. ( 1594625 )
1992
10
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. ( 1944469 )
1991
11
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. ( 2549426 )
1989
12
The McCune-Albright syndrome: a lethal gene surviving by mosaicism. ( 3720010 )
1986

Variations for Pituitary Adenoma 3, Multiple Types

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 GRCh37 Chromosome 20, 57466782: 57466782
2 GNAS NM_000516.5(GNAS): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs137854530 GRCh38 Chromosome 20, 58891727: 58891727
3 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
4 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
5 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
6 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366
7 GNAS NM_000516.5(GNAS): c.680A> G (p.Gln227Arg) single nucleotide variant Pathogenic rs121913494 GRCh37 Chromosome 20, 57484596: 57484596
8 GNAS NM_000516.5(GNAS): c.680A> G (p.Gln227Arg) single nucleotide variant Pathogenic rs121913494 GRCh38 Chromosome 20, 58909541: 58909541
9 GNAS NM_001077488.3(GNAS): c.684G> C (p.Gln228His) single nucleotide variant Pathogenic rs137854533 GRCh37 Chromosome 20, 57484597: 57484597
10 GNAS NM_001077488.3(GNAS): c.684G> C (p.Gln228His) single nucleotide variant Pathogenic rs137854533 GRCh38 Chromosome 20, 58909542: 58909542
11 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh37 Chromosome 20, 57466866: 57466866
12 GNAS NM_001077488.3(GNAS): c.85C> T (p.Gln29Ter) single nucleotide variant Pathogenic rs1057518907 GRCh38 Chromosome 20, 58891811: 58891811

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 COSM771 PIK3CA pituitary,NS,adenoma,PRL c.3073A>G p.T1025A 3:179234230-179234230 0
2 COSM760 PIK3CA pituitary,NS,adenoma,PRL c.1624G>A p.E542K 3:179218294-179218294 0
3 COSM22623 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 0
4 COSM483 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 0
5 COSM482 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 0
6 COSM27887 GNAS pituitary,NS,adenoma,GH c.601C>T p.R201C 20:58909365-58909365 0
7 COSM27895 GNAS pituitary,NS,adenoma,GH c.602G>A p.R201H 20:58909366-58909366 0
8 COSM27899 GNAS pituitary,NS,adenoma,GH c.601C>A p.R201S 20:58909365-58909365 0
9 COSM27896 GNAS pituitary,NS,adenoma,GH c.680A>G p.Q227R 20:58909541-58909541 0
10 COSM27888 GNAS pituitary,NS,adenoma,GH c.680A>T p.Q227L 20:58909541-58909541 0

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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