PITA1
MCID: PTT056
MIFTS: 52

Pituitary Adenoma 1, Multiple Types (PITA1)

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

Aliases & Classifications for Pituitary Adenoma 1, Multiple Types

MalaCards integrated aliases for Pituitary Adenoma 1, Multiple Types:

Name: Pituitary Adenoma 1, Multiple Types 57 75
Acromegaly Due to Pituitary Adenoma 1 57 75
Isolated Familial Somatotropinoma 57 75
Somatotrophinoma, Familial 57 73
Pituitary Gigantism 59 37
Pita1 57 75
Pagh1 57 75
Fis 57 75
Ifs 57 75
Adenoma, Pituitary, Growth Hormone-Secreting, Type 1 40
Pituitary Adenoma, Growth Hormone-Secreting, 1 75
Infantile and Juvenile Forms of Acromegaly 59
Somatotropinoma, Familial Isolated; Fis 57
Isolated Familial Somatotropinoma; Ifs 57
Pituitary Adenoma, Familial Isolated 73
Familial Isolated Pituitary Adenoma 75
Acromegaly Due to Pituitary Adenoma 75
Somatotropinoma, Familial Isolated 57
Multiple Gastrointestinal Atresias 73
Familial Isolated Somatotropinomas 75
Pituitary Adenoma Predisposition 73
Familial Somatotrophinoma 75
Hypophyseal Gigantism 59
Gigantism Pituitary 55
Gigantism 73
Fipa 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
onset in second or third decades


HPO:

32
pituitary adenoma 1, multiple types:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


Summaries for Pituitary Adenoma 1, Multiple Types

OMIM : 57 Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors. Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (139250)-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (176760)-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB; 188540)-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008). Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008). Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015). Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007). Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. (102200)

MalaCards based summary : Pituitary Adenoma 1, Multiple Types, also known as acromegaly due to pituitary adenoma 1, is related to mccune-albright syndrome and fibromyalgia, and has symptoms including endocrine system signs and symptoms An important gene associated with Pituitary Adenoma 1, Multiple Types is AIP (Aryl Hydrocarbon Receptor Interacting Protein), and among its related pathways/superpathways are Endochondral Ossification and Growth hormone receptor signaling. The drug Vandetanib has been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and lung, and related phenotypes are frontal bossing and hyperhidrosis

UniProtKB/Swiss-Prot : 75 Pituitary adenoma 1, 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.

Related Diseases for Pituitary Adenoma 1, 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 1, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1301)
# Related Disease Score Top Affiliating Genes
1 mccune-albright syndrome 31.8 SST PRL IGF1 GH1
2 fibromyalgia 31.6 PRL IGF1
3 hyperthyroidism 31.3 SST PRL GH1
4 conn's syndrome 31.2 SST PRL GH1
5 osteoporosis 31.0 IGFBP3 IGF1 GH1
6 hypothalamic disease 30.9 PRL GH1
7 pituitary adenoma, prolactin-secreting 30.9 SST PRL IGF1 GH1 AIP
8 pituitary hormone deficiency, combined, 2 30.7 GH1 IGF1 PRL
9 tetrahydrobiopterin deficiency 30.7 PRL GH1
10 carcinoid syndrome 30.7 SST IGF1
11 diabetes mellitus, insulin-dependent 30.6 SST IGFBP3 IGF1
12 gigantism 30.5 PRL GH1 AIP
13 nutritional deficiency disease 30.4 IGFBP3 IGF1
14 laron syndrome 30.3 IGFBP3 IGF1 GH1
15 diabetes mellitus, noninsulin-dependent 30.3 SST IGFBP3 IGF1 GH1
16 breast disease 30.3 PRL IGFBP3 IGF1
17 hypopituitarism 30.3 PRL IGFBP3 IGF1 GH1
18 body mass index quantitative trait locus 11 30.1 IGFBP3 IGF1 GH1
19 anorexia nervosa 30.0 PRL IGFBP3 IGF1 GH1
20 galactorrhea 30.0 PRL IGF1
21 multiple endocrine neoplasia, type i 29.9 SST PRL
22 traumatic brain injury 29.6 IGF1 GH1
23 turner syndrome 29.5 GH1 IGFBP3 IGF1
24 pituitary tumors 29.2 SST PRL IGF1 GH1 AIP
25 prader-willi syndrome 29.0 IGFBP3 IGF1 GH1
26 insulin-like growth factor i 28.9 SST PRL IGFBP3 IGF1 GH1
27 adenoma 28.8 SST PRL IGF1 GH1 AIP
28 hypothyroidism 28.7 GH1 IGF1 IGFBP3 PRL
29 acromegaly 28.4 SST PRL IGFBP3 IGF1 GH1 AIP
30 aip-related familial isolated pituitary adenomas 12.5
31 congenital disorder of glycosylation, type if 12.4
32 amelogenesis imperfecta, type if 12.4
33 neuropathy, hereditary sensory, type if 12.4
34 usher syndrome, type if 12.3
35 familial isolated pituitary adenoma 12.0
36 pituitary adenoma 2, growth hormone-secreting 11.6
37 fecal incontinence 11.5
38 gastrointestinal defects and immunodeficiency syndrome 11.3
39 acth-secreting pituitary adenoma 11.3
40 herpes zoster 11.2
41 chronic kidney failure 11.2
42 pituitary adenoma 5, multiple types 11.1
43 pituitary adenoma 3, multiple types 11.1
44 endocarditis 11.1
45 sickle cell disease 11.1
46 hepatitis b 11.1
47 acoustic neuroma 11.1
48 syphilis 11.1
49 charcot-marie-tooth disease, demyelinating, type 1f 11.1
50 pulmonary embolism 11.1

Graphical network of the top 20 diseases related to Pituitary Adenoma 1, Multiple Types:



Diseases related to Pituitary Adenoma 1, Multiple Types

Symptoms & Phenotypes for Pituitary Adenoma 1, Multiple Types

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Cardiovascular Heart:
cardiomyopathy
left ventricular hypertrophy

Endocrine Features:
menstrual irregularities
acromegaly
cushing disease due to increased acth secretion (less common)

Chest Breasts:
galactorrhea from increased serum prolactin

Skeletal Feet:
enlarged feet

Laboratory Abnormalities:
increased serum growth hormone levels
increased serum igf1
increased serum prolactin

Head And Neck Face:
coarse facial features
mandibular enlargement

Neoplasia:
pituitary adenoma
somatotrophinoma
prolactinoma

Growth Height:
increased height

Skeletal Hands:
enlarged hands

Neurologic Central Nervous System:
anterior pituitary adenoma


Clinical features from OMIM:

102200

Human phenotypes related to Pituitary Adenoma 1, Multiple Types:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
3 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
5 type ii diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005978
6 hypertrophic cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001639
7 left ventricular hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001712
8 growth hormone excess 59 32 hallmark (90%) Very frequent (99-80%) HP:0000845
9 pituitary prolactin cell adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0006767
10 pituitary growth hormone cell adenoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0011760
11 large hands 59 32 hallmark (90%) Very frequent (99-80%) HP:0001176
12 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
13 galactorrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0100829
14 prolactin excess 59 32 frequent (33%) Frequent (79-30%) HP:0000870
15 amenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000141
16 long foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001833
17 proportionate tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0011407
18 premature pubarche 59 32 hallmark (90%) Very frequent (99-80%) HP:0012411
19 increased serum insulin-like growth factor 1 59 32 hallmark (90%) Very frequent (99-80%) HP:0030269
20 hypertension 32 HP:0000822
21 cardiomyopathy 32 HP:0001638
22 pituitary adenoma 32 HP:0002893
23 tall stature 59 Very frequent (99-80%)
24 menstrual irregularities 32 HP:0000858
25 prolactinoma 32 HP:0040278

UMLS symptoms related to Pituitary Adenoma 1, Multiple Types:


endocrine system signs and symptoms

MGI Mouse Phenotypes related to Pituitary Adenoma 1, Multiple Types:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 AIP IGF1 IGFBP3 PRL SST TTC7A
2 endocrine/exocrine gland MP:0005379 9.72 AIP IGF1 IGFBP3 PRL TTC7A
3 integument MP:0010771 9.55 AIP IGF1 IGFBP3 PRL TTC7A
4 liver/biliary system MP:0005370 9.26 AIP IGFBP3 PRL TTC7A
5 neoplasm MP:0002006 8.92 AIP IGF1 PRL TTC7A

Drugs & Therapeutics for Pituitary Adenoma 1, Multiple Types

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Vandetanib 18 49 vandetanib AstraZeneca April 2011

Search Clinical Trials , NIH Clinical Center for Pituitary Adenoma 1, Multiple Types

Genetic Tests for Pituitary Adenoma 1, Multiple Types

Anatomical Context for Pituitary Adenoma 1, Multiple Types

MalaCards organs/tissues related to Pituitary Adenoma 1, Multiple Types:

41
Pituitary, Thyroid, Lung, Brain, Kidney, Bone, Heart

Publications for Pituitary Adenoma 1, Multiple Types

Articles related to Pituitary Adenoma 1, Multiple Types:

# Title Authors Year
1
Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis. ( 20454499 )
2010
2
Genome-wide scan identifies novel modifier loci of acromegalic phenotypes for isolated familial somatotropinoma. ( 19443539 )
2009
3
A meiotic recombination in a new isolated familial somatotropinoma kindred. ( 15132719 )
2004
4
Isolated familial somatotropinoma. ( 15761658 )
2004

Variations for Pituitary Adenoma 1, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Adenoma 1, Multiple Types:

75
# Symbol AA change Variation ID SNP ID
1 AIP p.Arg304Gln VAR_043913

ClinVar genetic disease variations for Pituitary Adenoma 1, Multiple Types:

6 (show top 50) (show all 281)
# Gene Variation Type Significance SNP ID Assembly Location
1 AIP NM_003977.3(AIP): c.40C> T (p.Gln14Ter) single nucleotide variant Pathogenic rs104894194 GRCh37 Chromosome 11, 67250669: 67250669
2 AIP NM_003977.3(AIP): c.40C> T (p.Gln14Ter) single nucleotide variant Pathogenic rs104894194 GRCh38 Chromosome 11, 67483198: 67483198
3 AIP NM_003977.3(AIP): c.469-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267606555 GRCh37 Chromosome 11, 67257508: 67257508
4 AIP NM_003977.3(AIP): c.469-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267606555 GRCh38 Chromosome 11, 67490037: 67490037
5 AIP NM_003977.3(AIP): c.910C> T (p.Arg304Ter) single nucleotide variant Pathogenic rs104894195 GRCh37 Chromosome 11, 67258381: 67258381
6 AIP NM_003977.3(AIP): c.910C> T (p.Arg304Ter) single nucleotide variant Pathogenic rs104894195 GRCh38 Chromosome 11, 67490910: 67490910
7 AIP NM_003977.3(AIP): c.66_71delAGGAGA (p.Gly23_Glu24del) deletion Pathogenic/Likely pathogenic rs267606567 GRCh37 Chromosome 11, 67250695: 67250700
8 AIP NM_003977.3(AIP): c.66_71delAGGAGA (p.Gly23_Glu24del) deletion Pathogenic/Likely pathogenic rs267606567 GRCh38 Chromosome 11, 67483224: 67483229
9 AIP NM_003977.3(AIP): c.824dupA (p.His275Glnfs) duplication Pathogenic/Likely pathogenic rs267606580 GRCh37 Chromosome 11, 67258295: 67258295
10 AIP NM_003977.3(AIP): c.824dupA (p.His275Glnfs) duplication Pathogenic/Likely pathogenic rs267606580 GRCh38 Chromosome 11, 67490824: 67490824
11 AIP NM_003977.3(AIP): c.542delT (p.Ile182Serfs) deletion Pathogenic/Likely pathogenic rs267606559 GRCh37 Chromosome 11, 67257582: 67257582
12 AIP NM_003977.3(AIP): c.542delT (p.Ile182Serfs) deletion Pathogenic/Likely pathogenic rs267606559 GRCh38 Chromosome 11, 67490111: 67490111
13 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh37 Chromosome 11, 67258275: 67258275
14 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh38 Chromosome 11, 67490804: 67490804
15 AIP NM_003977.3(AIP): c.911G> A (p.Arg304Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs104894190 GRCh37 Chromosome 11, 67258382: 67258382
16 AIP NM_003977.3(AIP): c.911G> A (p.Arg304Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs104894190 GRCh38 Chromosome 11, 67490911: 67490911
17 AIP NM_003977.3(AIP): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908357 GRCh37 Chromosome 11, 67250693: 67250693
18 AIP NM_003977.3(AIP): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908357 GRCh38 Chromosome 11, 67483222: 67483222
19 TTC7A NM_020458.3(TTC7A): c.2081T> C (p.Met694Thr) single nucleotide variant Uncertain significance rs368507641 GRCh38 Chromosome 2, 47051809: 47051809
20 TTC7A NM_020458.3(TTC7A): c.2081T> C (p.Met694Thr) single nucleotide variant Uncertain significance rs368507641 GRCh37 Chromosome 2, 47278948: 47278948
21 TTC7A NM_020458.3(TTC7A): c.1447G> A (p.Gly483Arg) single nucleotide variant Uncertain significance rs150438028 GRCh38 Chromosome 2, 47021916: 47021916
22 TTC7A NM_020458.3(TTC7A): c.1447G> A (p.Gly483Arg) single nucleotide variant Uncertain significance rs150438028 GRCh37 Chromosome 2, 47249055: 47249055
23 TTC7A NM_020458.3(TTC7A): c.1331G> A (p.Arg444Gln) single nucleotide variant Uncertain significance rs764574982 GRCh37 Chromosome 2, 47238513: 47238513
24 TTC7A NM_020458.3(TTC7A): c.1331G> A (p.Arg444Gln) single nucleotide variant Uncertain significance rs764574982 GRCh38 Chromosome 2, 47011374: 47011374
25 TTC7A NM_020458.3(TTC7A): c.973C> T (p.Arg325Trp) single nucleotide variant Uncertain significance rs777393270 GRCh37 Chromosome 2, 47221625: 47221625
26 TTC7A NM_020458.3(TTC7A): c.973C> T (p.Arg325Trp) single nucleotide variant Uncertain significance rs777393270 GRCh38 Chromosome 2, 46994486: 46994486
27 TTC7A NM_020458.3(TTC7A): c.592A> G (p.Thr198Ala) single nucleotide variant Uncertain significance rs139708012 GRCh37 Chromosome 2, 47202186: 47202186
28 TTC7A NM_020458.3(TTC7A): c.592A> G (p.Thr198Ala) single nucleotide variant Uncertain significance rs139708012 GRCh38 Chromosome 2, 46975047: 46975047
29 TTC7A NM_020458.3(TTC7A): c.407C> T (p.Ser136Leu) single nucleotide variant Uncertain significance rs748480706 GRCh37 Chromosome 2, 47184036: 47184036
30 TTC7A NM_020458.3(TTC7A): c.407C> T (p.Ser136Leu) single nucleotide variant Uncertain significance rs748480706 GRCh38 Chromosome 2, 46956897: 46956897
31 TTC7A NM_001288951.1(TTC7A): c.649-10C> T single nucleotide variant Benign/Likely benign rs149360779 GRCh38 Chromosome 2, 46978782: 46978782
32 TTC7A NM_001288951.1(TTC7A): c.649-10C> T single nucleotide variant Benign/Likely benign rs149360779 GRCh37 Chromosome 2, 47205921: 47205921
33 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720
34 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
35 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
36 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
37 TTC7A NM_020458.3(TTC7A): c.2470C> T (p.Gln824Ter) single nucleotide variant Pathogenic rs1057516047 GRCh38 Chromosome 2, 47073816: 47073816
38 TTC7A NM_020458.3(TTC7A): c.2470C> T (p.Gln824Ter) single nucleotide variant Pathogenic rs1057516047 GRCh37 Chromosome 2, 47300955: 47300955
39 AIP NM_003977.3(AIP): c.469-17T> C single nucleotide variant Uncertain significance rs886037872 GRCh37 Chromosome 11, 67257492: 67257492
40 AIP NM_003977.3(AIP): c.469-17T> C single nucleotide variant Uncertain significance rs886037872 GRCh38 Chromosome 11, 67490021: 67490021
41 AIP NM_003977.3(AIP): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs886037871 GRCh38 Chromosome 11, 67483161: 67483161
42 AIP NM_003977.3(AIP): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs886037871 GRCh37 Chromosome 11, 67250632: 67250632
43 AIP NM_003977.3(AIP): c.987C> T (p.Ser329=) single nucleotide variant Likely benign rs267606587 GRCh38 Chromosome 11, 67490987: 67490987
44 AIP NM_003977.3(AIP): c.987C> T (p.Ser329=) single nucleotide variant Likely benign rs267606587 GRCh37 Chromosome 11, 67258458: 67258458
45 AIP NM_003977.3(AIP): c.965C> T (p.Ala322Val) single nucleotide variant Likely benign rs267606586 GRCh38 Chromosome 11, 67490965: 67490965
46 AIP NM_003977.3(AIP): c.965C> T (p.Ala322Val) single nucleotide variant Likely benign rs267606586 GRCh37 Chromosome 11, 67258436: 67258436
47 AIP NM_003977.3(AIP): c.919dupC (p.Arg307Profs) duplication Likely pathogenic rs267606589 GRCh38 Chromosome 11, 67490919: 67490919
48 AIP NM_003977.3(AIP): c.919dupC (p.Arg307Profs) duplication Likely pathogenic rs267606589 GRCh37 Chromosome 11, 67258390: 67258390
49 AIP NM_003977.3(AIP): c.896C> T (p.Ala299Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148986773 GRCh38 Chromosome 11, 67490896: 67490896
50 AIP NM_003977.3(AIP): c.896C> T (p.Ala299Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148986773 GRCh37 Chromosome 11, 67258367: 67258367

Cosmic variations for Pituitary Adenoma 1, 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 COSM27895 GNAS pituitary,NS,adenoma,GH-PRL c.602G>A p.R201H 20:58909366-58909366 27
2 COSM27887 GNAS pituitary,NS,adenoma,GH-PRL c.601C>T p.R201C 20:58909365-58909365 27
3 COSM760 PIK3CA pituitary,NS,adenoma,PRL c.1624G>A p.E542K 3:179218294-179218294 26
4 COSM771 PIK3CA pituitary,NS,adenoma,PRL c.3073A>G p.T1025A 3:179234230-179234230 26
5 COSM22623 MEN1 pituitary,NS,adenoma,TSH c.1050-2A>G p.? 11:64805772-64805772 26
6 COSM483 HRAS pituitary,NS,adenoma,PRL c.35G>T p.G12V 11:534288-534288 26
7 COSM482 HRAS pituitary,NS,adenoma,PRL c.34G>C p.G12R 11:534289-534289 26
8 COSM27899 GNAS pituitary,NS,adenoma,GH c.601C>A p.R201S 20:58909365-58909365 26
9 COSM27888 GNAS pituitary,NS,adenoma,GH c.680A>T p.Q227L 20:58909541-58909541 26
10 COSM27896 GNAS pituitary,NS,adenoma,GH c.680A>G p.Q227R 20:58909541-58909541 26

Expression for Pituitary Adenoma 1, Multiple Types

Search GEO for disease gene expression data for Pituitary Adenoma 1, Multiple Types.

Pathways for Pituitary Adenoma 1, Multiple Types

Pathways related to Pituitary Adenoma 1, Multiple Types according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.97 GH1 IGF1
2
Show member pathways
10.57 GH1 PRL
3 9.95 IGF1 IGFBP3

GO Terms for Pituitary Adenoma 1, Multiple Types

Cellular components related to Pituitary Adenoma 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.72 GH1 IGF1 IGFBP3 PRL SST
2 extracellular space GO:0005615 9.65 GH1 IGF1 IGFBP3 PRL SST
3 endosome lumen GO:0031904 9.16 GH1 PRL
4 insulin-like growth factor ternary complex GO:0042567 8.96 IGF1 IGFBP3
5 insulin-like growth factor binding protein complex GO:0016942 8.62 IGF1 IGFBP3

Biological processes related to Pituitary Adenoma 1, Multiple Types according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to nutrient GO:0007584 9.51 PRL SST
2 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.49 GH1 IGF1
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.48 GH1 IGF1
4 positive regulation of epithelial cell proliferation GO:0050679 9.46 IGF1 PRL
5 response to nutrient levels GO:0031667 9.43 GH1 PRL
6 cellular protein metabolic process GO:0044267 9.43 IGF1 IGFBP3 PRL
7 response to heat GO:0009408 9.4 IGF1 SST
8 regulation of multicellular organism growth GO:0040014 9.37 IGF1 PRL
9 positive regulation of JAK-STAT cascade GO:0046427 9.32 GH1 PRL
10 regulation of signaling receptor activity GO:0010469 9.26 GH1 IGF1 PRL SST
11 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.16 GH1 PRL
12 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.8 GH1 IGF1 IGFBP3

Molecular functions related to Pituitary Adenoma 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 prolactin receptor binding GO:0005148 8.96 GH1 PRL
2 hormone activity GO:0005179 8.92 GH1 IGF1 PRL SST

Sources for Pituitary Adenoma 1, Multiple Types

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