PITA2
MCID: PTT058
MIFTS: 31

Pituitary Adenoma 2, Growth Hormone-Secreting (PITA2)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Pituitary Adenoma 2, Growth Hormone-Secreting

MalaCards integrated aliases for Pituitary Adenoma 2, Growth Hormone-Secreting:

Name: Pituitary Adenoma 2, Growth Hormone-Secreting 57 72
Acromegaly Due to Pituitary Adenoma 2 57 12 72
Pita2 57 12 72
Pituitary Adenoma, Growth Hormone-Secreting, 2 29 6
Growth Hormone Secreting Pituitary Adenoma 2 12 15
Pituitary Adenoma 2, Gh-Secreting 57 29
Acromegaly, X-Linked 57 72
Adenoma, Pituitary, Growth Hormone-Secreting, Type 2 39
Gh-Secreting Pituitary Adenoma 2 12
X-Linked Acromegaly 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked

Miscellaneous:
based on one report of patients with isolated acromegaly eight of whom had somatic mutation and 3 had de novo germline mutation (last curated january 2015)


HPO:

31
pituitary adenoma 2, growth hormone-secreting:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112007
OMIM® 57 300943
OMIM Phenotypic Series 57 PS102200
MedGen 41 C4012409

Summaries for Pituitary Adenoma 2, Growth Hormone-Secreting

UniProtKB/Swiss-Prot : 72 Pituitary adenoma 2, growth hormone-secreting: 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. PITA2 is a growth hormone-secreting benign neoplasm, also known as somatotropinoma. It clinically results in acromegaly, a condition characterized by coarse facial features, protruding jaw, and enlarged extremities. Excessive production of growth hormone in children or adolescents before the closure of epiphyses causes gigantism, a condition characterized by abnormally tall stature.

MalaCards based summary : Pituitary Adenoma 2, Growth Hormone-Secreting, also known as acromegaly due to pituitary adenoma 2, is related to growth hormone secreting pituitary adenoma. An important gene associated with Pituitary Adenoma 2, Growth Hormone-Secreting is GPR101 (G Protein-Coupled Receptor 101), and among its related pathways/superpathways is Amoebiasis. Affiliated tissues include pituitary, and related phenotypes are growth hormone excess and pituitary adenoma

Disease Ontology : 12 A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has material basis in mutation in GPR101 on chromosome Xq26.3.

More information from OMIM: 300943 PS102200

Related Diseases for Pituitary Adenoma 2, Growth Hormone-Secreting

Diseases in the Growth Hormone Secreting Pituitary Adenoma family:

Pituitary Adenoma 2, Growth Hormone-Secreting

Diseases related to Pituitary Adenoma 2, Growth Hormone-Secreting via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 growth hormone secreting pituitary adenoma 9.2 SERPINI1 SERPINB9 SERPINB5 GPR101

Symptoms & Phenotypes for Pituitary Adenoma 2, Growth Hormone-Secreting

Human phenotypes related to Pituitary Adenoma 2, Growth Hormone-Secreting:

31
# Description HPO Frequency HPO Source Accession
1 growth hormone excess 31 HP:0000845
2 pituitary adenoma 31 HP:0002893

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
pituitary adenoma

Growth Other:
acromegaly

Endocrine Features:
pituitary adenoma
acromegaly
elevated growth hormone

Clinical features from OMIM®:

300943 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pituitary Adenoma 2, Growth Hormone-Secreting

Search Clinical Trials , NIH Clinical Center for Pituitary Adenoma 2, Growth Hormone-Secreting

Genetic Tests for Pituitary Adenoma 2, Growth Hormone-Secreting

Genetic tests related to Pituitary Adenoma 2, Growth Hormone-Secreting:

# Genetic test Affiliating Genes
1 Pituitary Adenoma 2, Gh-Secreting 29
2 Pituitary Adenoma, Growth Hormone-Secreting, 2 29 GPR101

Anatomical Context for Pituitary Adenoma 2, Growth Hormone-Secreting

MalaCards organs/tissues related to Pituitary Adenoma 2, Growth Hormone-Secreting:

40
Pituitary

Publications for Pituitary Adenoma 2, Growth Hormone-Secreting

Articles related to Pituitary Adenoma 2, Growth Hormone-Secreting:

(show all 13)
# Title Authors PMID Year
1
Gigantism, acromegaly, and GPR101 mutations. 6 57
25806920 2015
2
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. 6 57
25470569 2014
3
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. 6
27245663 2016
4
Gigantism, acromegaly, and GPR101 mutations. 6
25806921 2015
5
Gigantism, acromegaly, and GPR101 mutations. 6
25806919 2015
6
Genomics-assisted breeding for successful development of multiple-stress-tolerant, climate-smart rice for southern and southeastern Asia. 61
33438317 2021
7
The broad-spectrum rice blast resistance (R) gene Pita2 encodes a novel R protein unique from Pita. 61
32170462 2020
8
Evaluating the Performance of Rice Genotypes for Improving Yield and Adaptability Under Direct Seeded Aerobic Cultivation Conditions. 61
30828343 2019
9
Use of molecular markers in identification and characterization of resistance to rice blast in India. 61
28445532 2017
10
Diverse Rice Landraces of North-East India Enables the Identification of Novel Genetic Resources for Magnaporthe Resistance. 61
28912793 2017
11
Expression analysis of innate immunity related genes in the true/field blast resistance gene-mediated defence response. 61
26740780 2014
12
Multiple translocation of the AVR-Pita effector gene among chromosomes of the rice blast fungus Magnaporthe oryzae and related species. 61
21829350 2011
13
Genome organization and evolution of the AVR-Pita avirulence gene family in the Magnaporthe grisea species complex. 61
18393625 2008

Variations for Pituitary Adenoma 2, Growth Hormone-Secreting

ClinVar genetic disease variations for Pituitary Adenoma 2, Growth Hormone-Secreting:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPR101 NM_054021.2(GPR101):c.510G>A (p.Trp170Ter) SNV Pathogenic 997457 GRCh37: X:136113324-136113324
GRCh38: X:137031165-137031165
2 GPR101 NM_054021.1(GPR101):c.1098C>A (p.Asp366Glu) SNV Conflicting interpretations of pathogenicity 192259 rs1556379508 GRCh37: X:136112736-136112736
GRCh38: X:137030577-137030577
3 GPR101 NM_054021.1(GPR101):c.924G>C (p.Glu308Asp) SNV Uncertain significance 167871 rs73637412 GRCh37: X:136112910-136112910
GRCh38: X:137030751-137030751

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Adenoma 2, Growth Hormone-Secreting:

72
# Symbol AA change Variation ID SNP ID
1 GPR101 p.Glu308Asp VAR_072691 rs73637412

Cosmic variations for Pituitary Adenoma 2, Growth Hormone-Secreting:

9 (show all 50)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM101967337 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 27
2 COSM91331236 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 27
3 COSM112988917 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 27
4 COSM105721467 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 27
5 COSM101951679 HRAS pituitary,NS,adenoma,GH c.35G>T p.G12V 11:534288-534288 27
6 COSM93760866 GNAS pituitary,NS,adenoma,GH c.2530C>T p.R844C 20:58909365-58909365 27
7 COSM93630265 GNAS pituitary,NS,adenoma,GH-alpha SU c.*507C>T p.? 20:58909365-58909365 27
8 COSM87642925 GNAS pituitary,NS,adenoma,GH c.94-402C>T p.? 20:58909365-58909365 27
9 COSM93086636 GNAS pituitary,NS,adenoma,GH c.604C>T p.R202C 20:58909365-58909365 27
10 COSM93726285 GNAS pituitary,NS,adenoma,GH c.559C>T p.R187C 20:58909365-58909365 27
11 COSM93726301 GNAS pituitary,NS,adenoma,GH c.560G>A p.R187H 20:58909366-58909366 27
12 COSM85346237 GNAS pituitary,NS,adenoma,GH c.635A>T p.Q212L 20:58909541-58909541 27
13 COSM85345830 GNAS pituitary,NS,adenoma,GH c.556C>T p.R186C 20:58909365-58909365 27
14 COSM93779606 GNAS pituitary,NS,adenoma,GH c.2488C>T p.R830C 20:58909365-58909365 27
15 COSM89474843 GNAS pituitary,NS,adenoma,GH c.*504C>T p.? 20:58909365-58909365 27
16 COSM93702294 GNAS pituitary,NS,adenoma,GH c.680A>T p.Q227L 20:58909541-58909541 27
17 COSM93701960 GNAS pituitary,NS,adenoma,GH c.601C>T p.R201C 20:58909365-58909365 27
18 COSM85345852 GNAS pituitary,NS,adenoma,GH c.557G>A p.R186H 20:58909366-58909366 27
19 COSM87642939 GNAS pituitary,NS,adenoma,GH c.94-401G>A p.? 20:58909366-58909366 27
20 COSM93726636 GNAS pituitary,NS,adenoma,GH c.638A>T p.Q213L 20:58909541-58909541 27
21 COSM93726530 GNAS pituitary,NS,adenoma,GH c.559C>A p.R187S 20:58909365-58909365 27
22 COSM93086945 GNAS pituitary,NS,adenoma,GH c.683A>T p.Q228L 20:58909541-58909541 27
23 COSM93779631 GNAS pituitary,NS,adenoma,GH c.2489G>A p.R830H 20:58909366-58909366 27
24 COSM93779988 GNAS pituitary,NS,adenoma,GH c.2567A>T p.Q856L 20:58909541-58909541 27
25 COSM93780281 GNAS pituitary,NS,adenoma,GH c.2567A>G p.Q856R 20:58909541-58909541 27
26 COSM93761460 GNAS pituitary,NS,adenoma,GH c.2609A>T p.Q870L 20:58909541-58909541 27
27 COSM93630681 GNAS pituitary,NS,adenoma,GH c.*586A>T p.? 20:58909541-58909541 27
28 COSM87643126 GNAS pituitary,NS,adenoma,GH c.94-402C>A p.? 20:58909365-58909365 27
29 COSM93702186 GNAS pituitary,NS,adenoma,GH c.601C>A p.R201S 20:58909365-58909365 27
30 COSM93086649 GNAS pituitary,NS,adenoma,GH c.605G>A p.R202H 20:58909366-58909366 27
31 COSM93761837 GNAS pituitary,NS,adenoma,GH c.2609A>G p.Q870R 20:58909541-58909541 27
32 COSM85346567 GNAS pituitary,NS,adenoma,GH c.635A>G p.Q212R 20:58909541-58909541 27
33 COSM93760887 GNAS pituitary,NS,adenoma,GH c.2531G>A p.R844H 20:58909366-58909366 27
34 COSM93701978 GNAS pituitary,NS,adenoma,GH c.602G>A p.R201H 20:58909366-58909366 27
35 COSM89475152 GNAS pituitary,NS,adenoma,GH c.*504C>A p.? 20:58909365-58909365 27
36 COSM93726964 GNAS pituitary,NS,adenoma,GH c.638A>G p.Q213R 20:58909541-58909541 27
37 COSM89474878 GNAS pituitary,NS,adenoma,GH c.*505G>A p.? 20:58909366-58909366 27
38 COSM87643479 GNAS pituitary,NS,adenoma,GH c.94-226A>G p.? 20:58909541-58909541 27
39 COSM87643227 GNAS pituitary,NS,adenoma,GH c.94-226A>T p.? 20:58909541-58909541 27
40 COSM93086861 GNAS pituitary,NS,adenoma,GH c.604C>A p.R202S 20:58909365-58909365 27
41 COSM93631069 GNAS pituitary,NS,adenoma,GH c.*586A>G p.? 20:58909541-58909541 27
42 COSM93630284 GNAS pituitary,NS,adenoma,GH c.*508G>A p.? 20:58909366-58909366 27
43 COSM93087211 GNAS pituitary,NS,adenoma,GH c.683A>G p.Q228R 20:58909541-58909541 27
44 COSM93702535 GNAS pituitary,NS,adenoma,GH c.680A>G p.Q227R 20:58909541-58909541 27
45 COSM89475620 GNAS pituitary,NS,adenoma,GH c.*583A>G p.? 20:58909541-58909541 27
46 COSM89475256 GNAS pituitary,NS,adenoma,GH c.*583A>T p.? 20:58909541-58909541 27
47 COSM93761140 GNAS pituitary,NS,adenoma,GH c.2530C>A p.R844S 20:58909365-58909365 27
48 COSM93630552 GNAS pituitary,NS,adenoma,GH c.*507C>A p.? 20:58909365-58909365 27
49 COSM93779884 GNAS pituitary,NS,adenoma,GH c.2488C>A p.R830S 20:58909365-58909365 27
50 COSM85346108 GNAS pituitary,NS,adenoma,GH c.556C>A p.R186S 20:58909365-58909365 27

Expression for Pituitary Adenoma 2, Growth Hormone-Secreting

Search GEO for disease gene expression data for Pituitary Adenoma 2, Growth Hormone-Secreting.

Pathways for Pituitary Adenoma 2, Growth Hormone-Secreting

Pathways related to Pituitary Adenoma 2, Growth Hormone-Secreting according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.63 SERPINB9 SERPINB6

GO Terms for Pituitary Adenoma 2, Growth Hormone-Secreting

Cellular components related to Pituitary Adenoma 2, Growth Hormone-Secreting according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.02 SERPINI1 SERPINB9 SERPINB6 SERPINB5 PI3

Biological processes related to Pituitary Adenoma 2, Growth Hormone-Secreting according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of peptidase activity GO:0010466 9.26 SERPINI1 SERPINB9 SERPINB6 PI3
2 negative regulation of endopeptidase activity GO:0010951 9.1 SERPINI1 SERPINB9 SERPINB6 SERPINB5 PSMF1 PI3

Molecular functions related to Pituitary Adenoma 2, Growth Hormone-Secreting according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.26 SERPINB9 SERPINB6
2 peptidase inhibitor activity GO:0030414 9.26 SERPINI1 SERPINB9 SERPINB6 PI3
3 endopeptidase inhibitor activity GO:0004866 9.16 PSMF1 PI3
4 serine-type endopeptidase inhibitor activity GO:0004867 9.02 SERPINI1 SERPINB9 SERPINB6 SERPINB5 PI3

Sources for Pituitary Adenoma 2, Growth Hormone-Secreting

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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