PITA1
MCID: PTT056
MIFTS: 53

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, thyroid and heart, 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 1455)
# Related Disease Score Top Affiliating Genes
1 fibromyalgia 31.7 IGF1 PRL
2 mccune-albright syndrome 31.6 GH1 IGF1 PRL SST
3 hyperthyroidism 31.2 GH1 PRL SST
4 hypothalamic disease 31.1 GH1 PRL
5 conn's syndrome 30.9 GH1 MEN1 PRL SST
6 osteoporosis 30.9 GH1 IGF1 IGFBP3
7 tetrahydrobiopterin deficiency 30.8 GH1 PRL
8 pituitary hormone deficiency, combined, 2 30.7 GH1 IGF1 PRL
9 gigantism 30.6 AIP GH1 PRL
10 carcinoid syndrome 30.5 IGF1 MEN1 SST
11 diabetes mellitus, insulin-dependent 30.4 IGF1 IGFBP3 SST
12 pituitary adenoma, prolactin-secreting 30.3 AIP GH1 IGF1 MEN1 PRL SST
13 laron syndrome 30.2 GH1 IGF1 IGFBP3
14 breast disease 30.2 IGF1 IGFBP3 PRL
15 nutritional deficiency disease 30.2 IGF1 IGFBP3
16 galactorrhea 30.1 IGF1 PRL
17 hypopituitarism 30.0 GH1 IGF1 IGFBP3 PRL
18 diabetes mellitus, noninsulin-dependent 30.0 GH1 IGF1 IGFBP3 SST
19 traumatic brain injury 29.8 GH1 IGF1
20 multiple endocrine neoplasia, type i 29.6 MEN1 PRL SST
21 turner syndrome 29.4 GH1 IGF1 IGFBP3
22 exudative vitreoretinopathy 1 29.2 IGF1 IGFBP3
23 prader-willi syndrome 28.8 GH1 IGF1 IGFBP3
24 hypothyroidism 28.6 GH1 IGF1 IGFBP3 PRL
25 pituitary tumors 28.5 AIP GH1 IGF1 MEN1 PRL SST
26 insulin-like growth factor i 28.4 GH1 IGF1 IGFBP3 PRL SST
27 anorexia nervosa 28.4 GH1 IGF1 IGFBP3 PRL
28 adenoma 28.1 AIP GH1 IGF1 MEN1 PRL SST
29 acromegaly 27.4 AIP GH1 IGF1 IGFBP3 MEN1 PRL
30 congenital disorder of glycosylation, type if 12.5
31 amelogenesis imperfecta, type if 12.5
32 neuropathy, hereditary sensory, type if 12.5
33 aip-related familial isolated pituitary adenomas 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 11.6
38 gastrointestinal defects and immunodeficiency syndrome 11.4
39 stroke, ischemic 11.3
40 acth-secreting pituitary adenoma 11.3
41 pulmonary embolism 11.3
42 diarrhea 11.3
43 respiratory failure 11.2
44 herpes zoster 11.2
45 fatty liver disease 11.2
46 chronic kidney failure 11.2
47 chagas disease 11.2
48 endocarditis 11.1
49 pituitary adenoma 5, multiple types 11.1
50 pituitary adenoma 3, multiple types 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, Heart, Kidney, Brain, Bone, Prostate

Publications for Pituitary Adenoma 1, Multiple Types

Articles related to Pituitary Adenoma 1, Multiple Types:

(show all 12)
# Title Authors Year
1
Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease. ( 29174094 )
2018
2
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. ( 25174867 )
2014
3
TTC7A mutations disrupt intestinal epithelial apicobasal polarity. ( 24292712 )
2014
4
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. ( 24417819 )
2014
5
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. ( 23371967 )
2013
6
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. ( 23423984 )
2013
7
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. ( 23830146 )
2013
8
Structure of the TPR domain of AIP: lack of client protein interaction with the C-terminal α-7 helix of the TPR domain of AIP is sufficient for pituitary adenoma predisposition. ( 23300914 )
2012
9
Large genomic deletions in AIP in pituitary adenoma predisposition. ( 18628514 )
2008
10
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. ( 17360484 )
2007
11
AIP gene in pituitary adenoma predisposition. ( 30290421 )
2007
12
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 301)
# 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.66_71delAGGAGA (p.Gly23_Glu24del) deletion Pathogenic/Likely pathogenic rs267606567 GRCh37 Chromosome 11, 67250695: 67250700
5 AIP NM_003977.3(AIP): c.66_71delAGGAGA (p.Gly23_Glu24del) deletion Pathogenic/Likely pathogenic rs267606567 GRCh38 Chromosome 11, 67483224: 67483229
6 AIP NM_003977.3(AIP): c.824dup (p.His275Glnfs) duplication Pathogenic/Likely pathogenic rs267606580 GRCh37 Chromosome 11, 67258295: 67258295
7 AIP NM_003977.3(AIP): c.824dup (p.His275Glnfs) duplication Pathogenic/Likely pathogenic rs267606580 GRCh38 Chromosome 11, 67490824: 67490824
8 AIP NM_003977.3(AIP): c.542delT (p.Ile182Serfs) deletion Pathogenic/Likely pathogenic rs267606559 GRCh37 Chromosome 11, 67257582: 67257582
9 AIP NM_003977.3(AIP): c.542delT (p.Ile182Serfs) deletion Pathogenic/Likely pathogenic rs267606559 GRCh38 Chromosome 11, 67490111: 67490111
10 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh37 Chromosome 11, 67258275: 67258275
11 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh38 Chromosome 11, 67490804: 67490804
12 AIP NM_003977.3(AIP): c.911G> A (p.Arg304Gln) single nucleotide variant drug response rs104894190 GRCh37 Chromosome 11, 67258382: 67258382
13 AIP NM_003977.3(AIP): c.911G> A (p.Arg304Gln) single nucleotide variant drug response rs104894190 GRCh38 Chromosome 11, 67490911: 67490911
14 AIP NM_003977.3(AIP): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908357 GRCh37 Chromosome 11, 67250693: 67250693
15 AIP NM_003977.3(AIP): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908357 GRCh38 Chromosome 11, 67483222: 67483222
16 AIP NM_003977.3(AIP): c.783C> T (p.Tyr261=) single nucleotide variant Likely benign rs267606576 GRCh38 Chromosome 11, 67490453: 67490453
17 AIP NM_003977.3(AIP): c.803A> G (p.Tyr268Cys) single nucleotide variant Likely pathogenic rs267606577 GRCh37 Chromosome 11, 67258274: 67258274
18 AIP NM_003977.3(AIP): c.803A> G (p.Tyr268Cys) single nucleotide variant Likely pathogenic rs267606577 GRCh38 Chromosome 11, 67490803: 67490803
19 AIP NM_003977.3(AIP) duplication Pathogenic rs267606578 GRCh37 Chromosome 11, 67258276: 67258296
20 AIP NM_003977.3(AIP) duplication Pathogenic rs267606578 GRCh38 Chromosome 11, 67490805: 67490825
21 AIP NM_003977.3(AIP): c.807C> T (p.Phe269=) single nucleotide variant Conflicting interpretations of pathogenicity rs139407567 GRCh37 Chromosome 11, 67258278: 67258278
22 AIP NM_003977.3(AIP): c.807C> T (p.Phe269=) single nucleotide variant Conflicting interpretations of pathogenicity rs139407567 GRCh38 Chromosome 11, 67490807: 67490807
23 AIP NM_003977.3(AIP): c.811C> T (p.Arg271Trp) single nucleotide variant Pathogenic rs267606579 GRCh37 Chromosome 11, 67258282: 67258282
24 AIP NM_003977.3(AIP): c.811C> T (p.Arg271Trp) single nucleotide variant Pathogenic rs267606579 GRCh38 Chromosome 11, 67490811: 67490811
25 AIP NM_003977.3(AIP): c.829G> C (p.Ala277Pro) single nucleotide variant Likely pathogenic rs267606581 GRCh37 Chromosome 11, 67258300: 67258300
26 AIP NM_003977.3(AIP): c.829G> C (p.Ala277Pro) single nucleotide variant Likely pathogenic rs267606581 GRCh38 Chromosome 11, 67490829: 67490829
27 AIP NM_003977.3(AIP): c.854_857delAGGC (p.Gln285Leufs) deletion Likely pathogenic rs267606582 GRCh37 Chromosome 11, 67258325: 67258328
28 AIP NM_003977.3(AIP): c.854_857delAGGC (p.Gln285Leufs) deletion Likely pathogenic rs267606582 GRCh38 Chromosome 11, 67490854: 67490857
29 AIP NM_003977.3(AIP): c.896C> T (p.Ala299Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148986773 GRCh37 Chromosome 11, 67258367: 67258367
30 AIP NM_003977.3(AIP): c.896C> T (p.Ala299Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148986773 GRCh38 Chromosome 11, 67490896: 67490896
31 AIP NM_003977.3(AIP): c.919dup (p.Arg307Profs) duplication Likely pathogenic rs267606589 GRCh37 Chromosome 11, 67258390: 67258390
32 AIP NM_003977.3(AIP): c.919dup (p.Arg307Profs) duplication Likely pathogenic rs267606589 GRCh38 Chromosome 11, 67490919: 67490919
33 AIP NM_003977.3(AIP): c.965C> T (p.Ala322Val) single nucleotide variant Likely benign rs267606586 GRCh37 Chromosome 11, 67258436: 67258436
34 AIP NM_003977.3(AIP): c.965C> T (p.Ala322Val) single nucleotide variant Likely benign rs267606586 GRCh38 Chromosome 11, 67490965: 67490965
35 AIP NM_003977.3(AIP): c.987C> T (p.Ser329=) single nucleotide variant Likely benign rs267606587 GRCh37 Chromosome 11, 67258458: 67258458
36 AIP NM_003977.3(AIP): c.987C> T (p.Ser329=) single nucleotide variant Likely benign rs267606587 GRCh38 Chromosome 11, 67490987: 67490987
37 AIP NM_003977.3(AIP): c.26G> A (p.Arg9Gln) single nucleotide variant Uncertain significance rs139459091 GRCh37 Chromosome 11, 67250655: 67250655
38 AIP NM_003977.3(AIP): c.26G> A (p.Arg9Gln) single nucleotide variant Uncertain significance rs139459091 GRCh38 Chromosome 11, 67483184: 67483184
39 AIP NM_003977.3(AIP): c.827C> T (p.Ala276Val) single nucleotide variant Uncertain significance rs61741147 GRCh37 Chromosome 11, 67258298: 67258298
40 AIP NM_003977.3(AIP): c.827C> T (p.Ala276Val) single nucleotide variant Uncertain significance rs61741147 GRCh38 Chromosome 11, 67490827: 67490827
41 TTC7A NM_020458.3(TTC7A): c.2081T> C (p.Met694Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 47051809: 47051809
42 TTC7A NM_020458.3(TTC7A): c.2081T> C (p.Met694Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 47278948: 47278948
43 TTC7A NM_020458.3(TTC7A): c.1447G> A (p.Gly483Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 47021916: 47021916
44 TTC7A NM_020458.3(TTC7A): c.1447G> A (p.Gly483Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 47249055: 47249055
45 TTC7A NM_020458.3(TTC7A): c.1331G> A (p.Arg444Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 47238513: 47238513
46 TTC7A NM_020458.3(TTC7A): c.1331G> A (p.Arg444Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 47011374: 47011374
47 TTC7A NM_020458.3(TTC7A): c.973C> T (p.Arg325Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 47221625: 47221625
48 TTC7A NM_020458.3(TTC7A): c.973C> T (p.Arg325Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 46994486: 46994486
49 TTC7A NM_020458.3(TTC7A): c.592A> G (p.Thr198Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 47202186: 47202186
50 TTC7A NM_020458.3(TTC7A): c.592A> G (p.Thr198Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 46975047: 46975047

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 COSM27895 GNAS pituitary,NS,adenoma,GH-PRL c.602G>A p.R201H 20:58909366-58909366 0
7 COSM27899 GNAS pituitary,NS,adenoma,GH c.601C>A p.R201S 20:58909365-58909365 0
8 COSM27888 GNAS pituitary,NS,adenoma,GH c.680A>T p.Q227L 20:58909541-58909541 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
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