PITA1
MCID: PTT056
MIFTS: 51

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 58 76
Pituitary Adenoma Predisposition 58 30 6 74
Acromegaly Due to Pituitary Adenoma 1 58 76
Isolated Familial Somatotropinoma 58 76
Somatotrophinoma, Familial 58 74
Pituitary Gigantism 60 38
Pita1 58 76
Pagh1 58 76
Fis 58 76
Ifs 58 76
Adenoma, Pituitary, Growth Hormone-Secreting, Type 1 41
Pituitary Adenoma, Growth Hormone-Secreting, 1 76
Infantile and Juvenile Forms of Acromegaly 60
Somatotropinoma, Familial Isolated; Fis 58
Isolated Familial Somatotropinoma; Ifs 58
Pituitary Adenoma, Familial Isolated 74
Familial Isolated Pituitary Adenoma 76
Acromegaly Due to Pituitary Adenoma 76
Somatotropinoma, Familial Isolated 58
Multiple Gastrointestinal Atresias 74
Familial Isolated Somatotropinomas 76
Familial Somatotrophinoma 76
Hypophyseal Gigantism 60
Gigantism Pituitary 56
Gigantism 74
Fipa 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
somatic mutation

Miscellaneous:
onset in second or third decades


HPO:

33
pituitary adenoma 1, multiple types:
Inheritance somatic mutation autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Pituitary Adenoma 1, Multiple Types

OMIM : 58 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 pituitary adenoma predisposition, is related to fibromyalgia and mccune-albright syndrome, 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 Transcriptional misregulation in cancer and Endochondral Ossification. Affiliated tissues include pituitary and thyroid, and related phenotypes are frontal bossing and hyperhidrosis

UniProtKB/Swiss-Prot : 76 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 1419)
# Related Disease Score Top Affiliating Genes
1 fibromyalgia 31.7 IGF1 PRL
2 mccune-albright syndrome 31.6 SST PRL IGF1 GH1
3 hyperthyroidism 31.2 SST PRL GH1
4 hypothalamic disease 31.0 PRL GH1
5 osteoporosis 30.8 GH1 IGF1 IGFBP3
6 conn's syndrome 30.8 SST PRL MEN1 GH1
7 tetrahydrobiopterin deficiency 30.8 GH1 PRL
8 pituitary hormone deficiency, combined, 2 30.7 PRL IGF1 GH1
9 gigantism 30.6 PRL GH1 AIP
10 carcinoid syndrome 30.5 SST MEN1 IGF1
11 diabetes mellitus, insulin-dependent 30.4 IGF1 IGFBP3 SST
12 anorexia nervosa 30.3 PRL IGFBP3 IGF1 GH1
13 pituitary adenoma, prolactin-secreting 30.3 SST PRL MEN1 IGF1 GH1 AIP
14 laron syndrome 30.2 IGFBP3 IGF1 GH1
15 breast disease 30.2 PRL IGFBP3 IGF1
16 nutritional deficiency disease 30.1 IGF1 IGFBP3
17 galactorrhea 30.1 PRL IGF1
18 hypopituitarism 30.0 PRL IGFBP3 IGF1 GH1
19 diabetes mellitus, noninsulin-dependent 30.0 GH1 IGF1 IGFBP3 SST
20 traumatic brain injury 29.8 GH1 IGF1
21 multiple endocrine neoplasia, type i 29.6 SST PRL MEN1
22 turner syndrome 29.4 IGFBP3 IGF1 GH1
23 exudative vitreoretinopathy 1 29.1 IGF1 IGFBP3
24 prader-willi syndrome 28.7 GH1 IGF1 IGFBP3
25 hypothyroidism 28.6 PRL IGFBP3 IGF1 GH1
26 pituitary tumors 28.5 SST PRL MEN1 IGF1 GH1 AIP
27 insulin-like growth factor i 28.4 SST PRL IGFBP3 IGF1 GH1
28 adenoma 28.1 SST PRL MEN1 IGF1 GH1 AIP
29 acromegaly 27.4 SST PRL MEN1 IGFBP3 IGF1 GH1
30 aip-related familial isolated pituitary adenomas 12.5
31 congenital disorder of glycosylation, type if 12.5
32 amelogenesis imperfecta, type if 12.5
33 neuropathy, hereditary sensory, type if 12.4
34 usher syndrome, type if 12.3
35 familial isolated pituitary adenoma 12.1
36 pituitary adenoma 2, growth hormone-secreting 11.7
37 fecal incontinence 11.5
38 gastrointestinal defects and immunodeficiency syndrome 11.3
39 acth-secreting pituitary adenoma 11.3
40 pulmonary embolism 11.2
41 respiratory failure 11.2
42 herpes zoster 11.2
43 fatty liver disease 11.2
44 chronic kidney failure 11.2
45 chagas disease 11.1
46 endocarditis 11.1
47 pituitary adenoma 5, multiple types 11.1
48 pituitary adenoma 3, multiple types 11.1
49 sickle cell disease 11.1
50 hepatitis b 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

Human phenotypes related to Pituitary Adenoma 1, Multiple Types:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 hyperhidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000975
3 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
4 mandibular prognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000303
5 type ii diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0005978
6 hypertrophic cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001639
7 left ventricular hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001712
8 growth hormone excess 60 33 hallmark (90%) Very frequent (99-80%) HP:0000845
9 pituitary growth hormone cell adenoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0011760
10 large hands 60 33 hallmark (90%) Very frequent (99-80%) HP:0001176
11 accelerated skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0005616
12 long foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001833
13 proportionate tall stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0011407
14 premature pubarche 60 33 hallmark (90%) Very frequent (99-80%) HP:0012411
15 increased serum insulin-like growth factor 1 60 33 hallmark (90%) Very frequent (99-80%) HP:0030269
16 pituitary prolactin cell adenoma 60 33 frequent (33%) Frequent (79-30%) HP:0006767
17 prolactin excess 60 33 frequent (33%) Frequent (79-30%) HP:0000870
18 amenorrhea 60 33 frequent (33%) Frequent (79-30%) HP:0000141
19 galactorrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0100829
20 hypertension 33 HP:0000822
21 cardiomyopathy 33 HP:0001638
22 pituitary adenoma 33 HP:0002893
23 tall stature 60 Very frequent (99-80%)
24 menstrual irregularities 33 HP:0000858
25 prolactinoma 33 HP:0040278

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Pituitary Adenoma 1, Multiple Types:


endocrine system signs and symptoms

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.8 AIP IGF1 IGFBP3 MEN1 PRL TTC7A
2 homeostasis/metabolism MP:0005376 9.8 AIP IGF1 IGFBP3 MEN1 PRL SST
3 integument MP:0010771 9.55 AIP IGF1 IGFBP3 PRL TTC7A
4 liver/biliary system MP:0005370 9.35 AIP IGFBP3 MEN1 PRL TTC7A
5 neoplasm MP:0002006 9.02 AIP IGF1 MEN1 PRL TTC7A

Drugs & Therapeutics for Pituitary Adenoma 1, Multiple Types

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA Recruiting NCT00461188

Search NIH Clinical Center for Pituitary Adenoma 1, Multiple Types

Genetic Tests for Pituitary Adenoma 1, Multiple Types

Genetic tests related to Pituitary Adenoma 1, Multiple Types:

# Genetic test Affiliating Genes
1 Pituitary Adenoma Predisposition 30

Anatomical Context for Pituitary Adenoma 1, Multiple Types

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

42
Pituitary, Thyroid

Publications for Pituitary Adenoma 1, Multiple Types

Articles related to Pituitary Adenoma 1, Multiple Types:

# Title Authors Year
1
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. ( 23371967 )
2013
2
Structure of the TPR domain of AIP: lack of client protein interaction with the C-terminal I+-7 helix of the TPR domain of AIP is sufficient for pituitary adenoma predisposition. ( 23300914 )
2012
3
Large genomic deletions in AIP in pituitary adenoma predisposition. ( 18628514 )
2008
4
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. ( 17360484 )
2007
5
AIP gene in pituitary adenoma predisposition. ( 30290421 )
2007
6
Pituitary adenoma predisposition caused by germline mutations in the AIP gene. ( 16728643 )
2006

Variations for Pituitary Adenoma 1, Multiple Types

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

76
# 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 291)
# Gene Variation Type Significance SNP ID Assembly Location
1 AIP NM_003977.3(AIP): c.824dup (p.His275Glnfs) duplication Pathogenic/Likely pathogenic rs267606580 GRCh38 Chromosome 11, 67490824: 67490824
2 AIP NM_003977.3(AIP): c.40C> T (p.Gln14Ter) single nucleotide variant Pathogenic rs104894194 GRCh37 Chromosome 11, 67250669: 67250669
3 AIP NM_003977.3(AIP): c.40C> T (p.Gln14Ter) single nucleotide variant Pathogenic rs104894194 GRCh38 Chromosome 11, 67483198: 67483198
4 AIP NM_003977.3(AIP): c.469-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267606555 GRCh37 Chromosome 11, 67257508: 67257508
5 AIP NM_003977.3(AIP): c.469-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs267606555 GRCh38 Chromosome 11, 67490037: 67490037
6 AIP NM_003977.3(AIP): c.910C> T (p.Arg304Ter) single nucleotide variant Pathogenic rs104894195 GRCh37 Chromosome 11, 67258381: 67258381
7 AIP NM_003977.3(AIP): c.910C> T (p.Arg304Ter) single nucleotide variant Pathogenic rs104894195 GRCh38 Chromosome 11, 67490910: 67490910
8 AIP NM_003977.3(AIP): c.66_71delAGGAGA (p.Gly23_Glu24del) deletion Pathogenic/Likely pathogenic rs267606567 GRCh37 Chromosome 11, 67250695: 67250700
9 AIP NM_003977.3(AIP): c.66_71delAGGAGA (p.Gly23_Glu24del) deletion Pathogenic/Likely pathogenic rs267606567 GRCh38 Chromosome 11, 67483224: 67483229
10 AIP NM_003977.3(AIP): c.824dup (p.His275Glnfs) duplication Pathogenic/Likely pathogenic rs267606580 GRCh37 Chromosome 11, 67258295: 67258295
11 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh37 Chromosome 11, 67258275: 67258275
12 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh38 Chromosome 11, 67490804: 67490804
13 AIP NM_003977.3(AIP): c.911G> A (p.Arg304Gln) single nucleotide variant drug response rs104894190 GRCh37 Chromosome 11, 67258382: 67258382
14 AIP NM_003977.3(AIP): c.911G> A (p.Arg304Gln) single nucleotide variant drug response rs104894190 GRCh38 Chromosome 11, 67490911: 67490911
15 AIP NM_003977.3(AIP): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908357 GRCh37 Chromosome 11, 67250693: 67250693
16 AIP NM_003977.3(AIP): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908357 GRCh38 Chromosome 11, 67483222: 67483222
17 AIP NM_003977.3(AIP): c.742_744delTAC (p.Tyr248del) deletion Likely pathogenic rs267606574 GRCh38 Chromosome 11, 67490412: 67490414
18 AIP NM_003977.3(AIP): c.74_81delTCCCGGACins7 indel Likely pathogenic GRCh37 Chromosome 11, 67250703: 67250710
19 AIP NM_003977.3(AIP): c.74_81delTCCCGGACins7 indel Likely pathogenic GRCh38 Chromosome 11, 67483232: 67483239
20 AIP NM_003977.3(AIP): c.769A> G (p.Ile257Val) single nucleotide variant Likely pathogenic rs267606575 GRCh37 Chromosome 11, 67257910: 67257910
21 AIP NM_003977.3(AIP): c.769A> G (p.Ile257Val) single nucleotide variant Likely pathogenic rs267606575 GRCh38 Chromosome 11, 67490439: 67490439
22 AIP NM_003977.3(AIP): c.783C> T (p.Tyr261=) single nucleotide variant Likely benign rs267606576 GRCh37 Chromosome 11, 67257924: 67257924
23 AIP NM_003977.3(AIP): c.783C> T (p.Tyr261=) single nucleotide variant Likely benign rs267606576 GRCh38 Chromosome 11, 67490453: 67490453
24 AIP NM_003977.3(AIP): c.803A> G (p.Tyr268Cys) single nucleotide variant Likely pathogenic rs267606577 GRCh37 Chromosome 11, 67258274: 67258274
25 AIP NM_003977.3(AIP): c.803A> G (p.Tyr268Cys) single nucleotide variant Likely pathogenic rs267606577 GRCh38 Chromosome 11, 67490803: 67490803
26 AIP NM_003977.3(AIP) duplication Pathogenic rs267606578 GRCh37 Chromosome 11, 67258276: 67258296
27 AIP NM_003977.3(AIP) duplication Pathogenic rs267606578 GRCh38 Chromosome 11, 67490805: 67490825
28 AIP NM_003977.3(AIP): c.807C> T (p.Phe269=) single nucleotide variant Conflicting interpretations of pathogenicity rs139407567 GRCh37 Chromosome 11, 67258278: 67258278
29 TTC7A NM_020458.3(TTC7A): c.2081T> C (p.Met694Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 47278948: 47278948
30 TTC7A NM_020458.3(TTC7A): c.2081T> C (p.Met694Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 47051809: 47051809
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 MEN1 NM_000244.3(MEN1): c.1846T> A (p.Ter616Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 64804336: 64804336
34 MEN1 NM_000244.3(MEN1): c.1846T> A (p.Ter616Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 64571808: 64571808
35 MEN1 NM_000244.3(MEN1): c.*412G> A single nucleotide variant Likely pathogenic rs972128957 GRCh37 Chromosome 11, 64571394: 64571394
36 MEN1 NM_000244.3(MEN1): c.*412G> A single nucleotide variant Likely pathogenic rs972128957 GRCh38 Chromosome 11, 64803922: 64803922
37 TTC7A NM_020458.3(TTC7A): c.1129C> G (p.Gln377Glu) single nucleotide variant Benign/Likely benign rs117304542 GRCh38 Chromosome 2, 47005985: 47005985
38 TTC7A NM_020458.3(TTC7A): c.1129C> G (p.Gln377Glu) single nucleotide variant Benign/Likely benign rs117304542 GRCh37 Chromosome 2, 47233124: 47233124
39 TTC7A NM_001288951.1(TTC7A): c.2587G> A (p.Ala863Thr) single nucleotide variant Pathogenic rs202044972 GRCh38 Chromosome 2, 47073861: 47073861
40 TTC7A NM_001288951.1(TTC7A): c.2587G> A (p.Ala863Thr) single nucleotide variant Pathogenic rs202044972 GRCh37 Chromosome 2, 47301000: 47301000
41 TTC7A NM_001288951.1(TTC7A): c.1616C> T (p.Ser539Leu) single nucleotide variant Pathogenic rs776906926 GRCh37 Chromosome 2, 47251473: 47251473
42 TTC7A NM_001288951.1(TTC7A): c.1616C> T (p.Ser539Leu) single nucleotide variant Pathogenic rs776906926 GRCh38 Chromosome 2, 47024334: 47024334
43 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh38 Chromosome 20, 58854720: 58854720
44 GNAS NM_080425.3(GNAS): c.1455C> A (p.Ala485=) single nucleotide variant Uncertain significance rs55890501 GRCh37 Chromosome 20, 57429775: 57429775
45 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh38 Chromosome 20, 58854465: 58854465
46 GNAS NM_080425.3(GNAS): c.1200C> A (p.Ala400=) single nucleotide variant Uncertain significance rs908810796 GRCh37 Chromosome 20, 57429520: 57429520
47 TTC7A NM_020458.3(TTC7A): c.2470C> T (p.Gln824Ter) single nucleotide variant Pathogenic rs1057516047 GRCh38 Chromosome 2, 47073816: 47073816
48 TTC7A NM_020458.3(TTC7A): c.2470C> T (p.Gln824Ter) single nucleotide variant Pathogenic rs1057516047 GRCh37 Chromosome 2, 47300955: 47300955
49 MEN1 NM_130799.2(MEN1): c.*470A> G single nucleotide variant Conflicting interpretations of pathogenicity rs778272737 GRCh38 Chromosome 11, 64803864: 64803864
50 MEN1 NM_130799.2(MEN1): c.*470A> G single nucleotide variant Conflicting interpretations of pathogenicity rs778272737 GRCh37 Chromosome 11, 64571336: 64571336

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

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 11.4 IGF1 IGFBP3 MEN1
2 11.07 GH1 IGF1
3
Show member pathways
10.77 GH1 PRL
4 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 space GO:0005615 9.65 GH1 IGF1 IGFBP3 PRL SST
2 endosome lumen GO:0031904 9.16 GH1 PRL
3 insulin-like growth factor ternary complex GO:0042567 8.96 IGF1 IGFBP3
4 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:

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.46 GH1 IGF1 PRL SST
2 response to nutrient levels GO:0031667 9.43 GH1 PRL
3 response to heat GO:0009408 9.4 IGF1 SST
4 regulation of multicellular organism growth GO:0040014 9.37 IGF1 PRL
5 positive regulation of JAK-STAT cascade GO:0046427 9.32 GH1 PRL
6 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.26 GH1 PRL
7 cellular protein metabolic process GO:0044267 9.26 IGF1 IGFBP3 MEN1 PRL
8 positive regulation of epithelial cell proliferation GO:0050679 9.16 IGF1
9 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....