PITA3
MCID: PTT061
MIFTS: 32

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 57 12 72 29 6
Pita3 57 12 72
Pituitary Adenoma 3 12 15
Pituitary Adenoma 3, Multiple Types, Somatic 57

Classifications:



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Disease Ontology 12 DOID:0112010
OMIM® 57 617686
OMIM Phenotypic Series 57 PS102200
MeSH 44 D010911
MedGen 41 CN495005

Summaries for Pituitary Adenoma 3, Multiple Types

UniProtKB/Swiss-Prot : 72 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, also known as pita3, is related to pituitary adenoma and adenoma. An important gene associated with Pituitary Adenoma 3, Multiple Types is GNAS (GNAS Complex Locus), and among its related pathways/superpathways is Amoebiasis. Affiliated tissues include pituitary, adrenal gland and bone.

Disease Ontology : 12 A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has material basis in somatic mutation in GNAS on chromosome 20q13.32.

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) (Updated 20-May-2021)

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

Diseases related to Pituitary Adenoma 3, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pituitary adenoma 10.2
2 adenoma 10.2
3 growth hormone secreting pituitary adenoma 10.0 SERPINB9 GNAS
4 pituitary adenoma 1, multiple types 10.0 SERPINB9 NLRP6
5 acth-secreting pituitary adenoma 10.0 USP8 GNAS
6 adrenal gland disease 9.9 USP8 GNAS
7 carney complex variant 9.9 USP8 GNAS
8 pituitary gland disease 9.7 USP8 GNAS

Graphical network of the top 20 diseases related to Pituitary Adenoma 3, Multiple Types:



Diseases related to Pituitary Adenoma 3, Multiple Types

Symptoms & Phenotypes for Pituitary Adenoma 3, Multiple Types

Clinical features from OMIM®:

617686 (Updated 20-May-2021)

Drugs & Therapeutics for Pituitary Adenoma 3, Multiple Types

Search Clinical Trials , NIH Clinical Center for Pituitary Adenoma 3, Multiple Types

Genetic Tests for Pituitary Adenoma 3, Multiple Types

Genetic tests related to Pituitary Adenoma 3, Multiple Types:

# Genetic test Affiliating Genes
1 Pituitary Adenoma 3, Multiple Types 29 GNAS

Anatomical Context for Pituitary Adenoma 3, Multiple Types

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

40
Pituitary, Adrenal Gland, Bone, Thyroid

Publications for Pituitary Adenoma 3, Multiple Types

Articles related to Pituitary Adenoma 3, Multiple Types:

(show all 23)
# Title Authors PMID Year
1
G-protein mutations in human pituitary adrenocorticotrophic hormone-secreting adenomas. 6 57
7737262 1995
2
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. 6
24855271 2014
3
Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor? 6
16507630 2006
4
Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. 6
12970318 2003
5
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 6
12727968 2003
6
Relevant cAMP-specific phosphodiesterase isoforms in human pituitary: effect of Gs(alpha) mutations. 57
11502813 2001
7
Mutation of somatostatin receptor type 5 in an acromegalic patient resistant to somatostatin analog treatment. 57
11502816 2001
8
Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly. 57
11254676 2001
9
Impact of gsp oncogene on the expression of genes coding for Gsalpha, Pit-1, Gi2alpha, and somatostatin receptor 2 in human somatotroph adenomas: involvement in octreotide sensitivity. 57
10443675 1999
10
Activating mutations of the Gs alpha gene are associated with low levels of Gs alpha protein in growth hormone-secreting tumors. 57
9851782 1998
11
Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors. 6
9626141 1998
12
Pronostic and therapeutic consequences of Gs alpha mutations in somatotroph adenomas. 57
9589663 1998
13
Constitutively active Gs alpha is associated with an increased phosphodiesterase activity in human growth hormone-secreting adenomas. 57
9589667 1998
14
Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients. 6
8766942 1996
15
Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. 6
7739708 1995
16
Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations. 57
8514889 1993
17
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. 6
1594625 1992
18
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. 6
1944469 1991
19
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 6
2549426 1989
20
The McCune-Albright syndrome: a lethal gene surviving by mosaicism. 6
3720010 1986
21
Use of molecular markers in identification and characterization of resistance to rice blast in India. 61
28445532 2017
22
Multiple translocation of the AVR-Pita effector gene among chromosomes of the rice blast fungus Magnaporthe oryzae and related species. 61
21829350 2011
23
Genome organization and evolution of the AVR-Pita avirulence gene family in the Magnaporthe grisea species complex. 61
18393625 2008

Variations for Pituitary Adenoma 3, Multiple Types

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNAS NM_016592.4(GNAS):c.*587G>C SNV Pathogenic 15936 rs137854533 GRCh37: 20:57484597-57484597
GRCh38: 20:58909542-58909542
2 GNAS NM_000516.6(GNAS):c.1A>G (p.Met1Val) SNV Pathogenic 15927 rs137854530 GRCh37: 20:57466782-57466782
GRCh38: 20:58891727-58891727
3 GNAS NM_000516.6(GNAS):c.85C>T (p.Gln29Ter) SNV Pathogenic 374113 rs1057518907 GRCh37: 20:57466866-57466866
GRCh38: 20:58891811-58891811
4 GNAS NM_000516.5:c.(?_-424)_(257_?)dup Duplication Pathogenic 987921 GRCh37:
GRCh38:
5 GNAS NM_000516.6(GNAS):c.680A>G (p.Gln227Arg) SNV Pathogenic 15935 rs121913494 GRCh37: 20:57484596-57484596
GRCh38: 20:58909541-58909541
6 GNAS NM_000516.6(GNAS):c.601C>T (p.Arg201Cys) SNV Pathogenic 15933 rs11554273 GRCh37: 20:57484420-57484420
GRCh38: 20:58909365-58909365
7 GNAS NM_000516.6(GNAS):c.602G>A (p.Arg201His) SNV Pathogenic 15934 rs121913495 GRCh37: 20:57484421-57484421
GRCh38: 20:58909366-58909366

Cosmic variations for Pituitary Adenoma 3, Multiple Types:

9 (show top 50) (show all 186)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM86624499 RB1 pituitary,NS,adenoma,ACTH-FSH-GH-LH-PRL c.1861C>A p.R621S 13:48456250-48456250 18
2 COSM87132301 PIK3CA pituitary,NS,adenoma,PRL c.1624G>A p.E542K 3:179218294-179218294 18
3 COSM148932717 PIK3CA pituitary,NS,adenoma,PRL c.1624G>A p.E542K 3:179218294-179218294 18
4 COSM148932735 PIK3CA pituitary,NS,adenoma,PRL c.*153A>G p.? 3:179234230-179234230 18
5 COSM87132318 PIK3CA pituitary,NS,adenoma,PRL c.3073A>G p.T1025A 3:179234230-179234230 18
6 COSM100255374 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 18
7 COSM100204187 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 18
8 COSM92200375 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 18
9 COSM92072553 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 18
10 COSM100173638 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 18
11 COSM99575811 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 18
12 COSM90429831 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 18
13 COSM99563837 MEN1 pituitary,NS,adenoma,TSH c.1065-2A>G p.? 11:64805772-64805772 18
14 COSM100244198 MEN1 pituitary,NS,adenoma,TSH c.945-2A>G p.? 11:64805772-64805772 18
15 COSM101951679 HRAS pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 18
16 COSM101967337 HRAS pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 18
17 COSM105721467 HRAS pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 18
18 COSM91331236 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 18
19 COSM112988978 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 18
20 COSM112988917 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 18
21 COSM105721542 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 18
22 COSM101951743 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 18
23 COSM91331304 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 18
24 COSM101967380 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 18
25 COSM93760866 GNAS pituitary,NS,adenoma,GH c.2530C>T p.R844C 20:58909365-58909365 18
26 COSM93630265 GNAS pituitary,NS,adenoma,GH-alpha SU c.*507C>T p.? 20:58909365-58909365 18
27 COSM87642925 GNAS pituitary,NS,adenoma,GH c.94-402C>T p.? 20:58909365-58909365 18
28 COSM93086636 GNAS pituitary,NS,adenoma,GH c.604C>T p.R202C 20:58909365-58909365 18
29 COSM93726285 GNAS pituitary,NS,adenoma,GH c.559C>T p.R187C 20:58909365-58909365 18
30 COSM93726301 GNAS pituitary,NS,adenoma,GH c.560G>A p.R187H 20:58909366-58909366 18
31 COSM85346237 GNAS pituitary,NS,adenoma,GH c.635A>T p.Q212L 20:58909541-58909541 18
32 COSM85345830 GNAS pituitary,NS,adenoma,GH c.556C>T p.R186C 20:58909365-58909365 18
33 COSM93779606 GNAS pituitary,NS,adenoma,GH c.2488C>T p.R830C 20:58909365-58909365 18
34 COSM89474843 GNAS pituitary,NS,adenoma,GH c.*504C>T p.? 20:58909365-58909365 18
35 COSM93702294 GNAS pituitary,NS,adenoma,GH c.680A>T p.Q227L 20:58909541-58909541 18
36 COSM93701960 GNAS pituitary,NS,adenoma,GH c.601C>T p.R201C 20:58909365-58909365 18
37 COSM85345852 GNAS pituitary,NS,adenoma,GH c.557G>A p.R186H 20:58909366-58909366 18
38 COSM87642939 GNAS pituitary,NS,adenoma,GH c.94-401G>A p.? 20:58909366-58909366 18
39 COSM93726636 GNAS pituitary,NS,adenoma,GH c.638A>T p.Q213L 20:58909541-58909541 18
40 COSM93726530 GNAS pituitary,NS,adenoma,GH c.559C>A p.R187S 20:58909365-58909365 18
41 COSM93086945 GNAS pituitary,NS,adenoma,GH c.683A>T p.Q228L 20:58909541-58909541 18
42 COSM93779631 GNAS pituitary,NS,adenoma,GH c.2489G>A p.R830H 20:58909366-58909366 18
43 COSM93779988 GNAS pituitary,NS,adenoma,GH c.2567A>T p.Q856L 20:58909541-58909541 18
44 COSM93780281 GNAS pituitary,NS,adenoma,GH c.2567A>G p.Q856R 20:58909541-58909541 18
45 COSM93761460 GNAS pituitary,NS,adenoma,GH c.2609A>T p.Q870L 20:58909541-58909541 18
46 COSM93630681 GNAS pituitary,NS,adenoma,GH c.*586A>T p.? 20:58909541-58909541 18
47 COSM87643126 GNAS pituitary,NS,adenoma,GH c.94-402C>A p.? 20:58909365-58909365 18
48 COSM93702186 GNAS pituitary,NS,adenoma,GH c.601C>A p.R201S 20:58909365-58909365 18
49 COSM93086649 GNAS pituitary,NS,adenoma,GH c.605G>A p.R202H 20:58909366-58909366 18
50 COSM93761837 GNAS pituitary,NS,adenoma,GH c.2609A>G p.Q870R 20:58909541-58909541 18

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

Pathways related to Pituitary Adenoma 3, Multiple Types according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.63 SERPINB9 GNAS

GO Terms for Pituitary Adenoma 3, Multiple Types

Biological processes related to Pituitary Adenoma 3, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to bacterium GO:0009617 8.62 SERPINB9 NLRP6

Sources for Pituitary Adenoma 3, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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