MCID: PTT050
MIFTS: 37

Pituitary Adenoma, Growth Hormone-Secreting malady

Genetic diseases (common), Endocrine diseases categories

Aliases & Classifications for Pituitary Adenoma, Growth Hormone-Secreting

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Pituitary Adenoma, Growth Hormone-Secreting, Aliases & Descriptions:

Name: Pituitary Adenoma, Growth Hormone-Secreting 45
Somatotroph Adenoma 9 22
Growth Hormone Producing Adenoma of the Pituitary 9
Growth Hormone Secreting Adenoma of Pituitary 9
Growth Hormone Secreting Pituitary Adenoma 9
 
Growth Hormone-Secreting Pituitary Adenoma 60
Somatotrophinoma, Familial 60
Somatostatin Analog 45
Acromegaly, Somatic 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Endocrine diseases


External Ids:

OMIM45 102200
Disease Ontology9 DOID:6255
SNOMED-CT55 254957009
NCIt38 C7461
MeSH33 D049912

Summaries for Pituitary Adenoma, Growth Hormone-Secreting

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OMIM:45 Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of... (102200) more...

MalaCards based summary: Pituitary Adenoma, Growth Hormone-Secreting, also known as somatotroph adenoma, is related to acromegaly and pituitary adenoma, and has symptoms including autosomal dominant inheritance, coarse facial features and hypertension. An important gene associated with Pituitary Adenoma, Growth Hormone-Secreting is SSTR5 (somatostatin receptor 5). The compounds octreotide and acth have been mentioned in the context of this disorder. Affiliated tissues include pituitary, and related mouse phenotypes are growth/size/body and endocrine/exocrine gland.

Related Diseases for Pituitary Adenoma, Growth Hormone-Secreting

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Graphical network of the top 20 diseases related to Pituitary Adenoma, Growth Hormone-Secreting:



Diseases related to pituitary adenoma, growth hormone-secreting

Symptoms for Pituitary Adenoma, Growth Hormone-Secreting

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Symptoms by clinical synopsis from OMIM:

102200

Clinical features from OMIM:

102200

HPO human phenotypes related to Pituitary Adenoma, Growth Hormone-Secreting:

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 coarse facial features HP:0000280
3 hypertension HP:0000822
4 growth hormone excess HP:0000845
5 menstrual irregularities HP:0000858
6 somatic mutation HP:0001428
7 cardiomyopathy HP:0001638
8 left ventricular hypertrophy HP:0001712
9 abnormality of metabolism/homeostasis HP:0001939
10 pituitary adenoma HP:0002893
11 pituitary prolactin cell adenoma HP:0006767
12 galactorrhea HP:0100829

Drugs & Therapeutics for Pituitary Adenoma, Growth Hormone-Secreting

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Drug clinical trials:

Search ClinicalTrials for Pituitary Adenoma, Growth Hormone-Secreting

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

Genetic Tests for Pituitary Adenoma, Growth Hormone-Secreting

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

id Genetic test Affiliating Genes
1 Somatotroph Adenoma22

Anatomical Context for Pituitary Adenoma, Growth Hormone-Secreting

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

31
Pituitary

Animal Models for Pituitary Adenoma, Growth Hormone-Secreting or affiliated genes

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MGI Mouse Phenotypes related to Pituitary Adenoma, Growth Hormone-Secreting:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.5SSTR5, GNAS, AIP
2MP:00053798.2SSTR5, GNAS, AIP

Publications for Pituitary Adenoma, Growth Hormone-Secreting

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Variations for Pituitary Adenoma, Growth Hormone-Secreting

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

6 (show all 59)
id Gene Variation Type Significance SNP ID Assembly Location
1GNASNM_001077488.2(GNAS): c.604C> T (p.Arg202Cys)single nucleotide variantPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
2GNASNM_001077488.2(GNAS): c.605G> A (p.Arg202His)single nucleotide variantPathogenicrs121913495GRCh37Chr 20, 57484421: 57484421
3GNASNM_001077488.2(GNAS): c.683A> G (p.Gln228Arg)single nucleotide variantPathogenicrs121913494GRCh37Chr 20, 57484596: 57484596
4GNASNM_001077488.2(GNAS): c.604C> A (p.Arg202Ser)single nucleotide variantPathogenicrs11554273GRCh37Chr 20, 57484420: 57484420
5AIPNM_003977.2: c.-1212_279+578deldeletionLikely pathogenicGRCh37Chr 11, 67249418: 67255234
6AIPNM_003977.2: c.(?_1)_(*_?)deletionLikely pathogenic
7AIPNM_003977.2: c.100-1025_279+357del1562deletionLikely pathogenicGRCh37Chr 11, 67253452: 67255013
8AIPNM_003977.2(AIP): c.138_161del24 (p.Gly47_Arg54del)deletionLikely pathogenicrs267606537GRCh37Chr 11, 67254515: 67254538
9AIPNM_003977.2(AIP): c.166C> A (p.Arg56Ser)single nucleotide variantLikely pathogenicrs267606538GRCh37Chr 11, 67254543: 67254543
10AIPNM_003977.2(AIP): c.174G> C (p.Lys58Asn)single nucleotide variantLikely pathogenicrs267606539GRCh37Chr 11, 67254551: 67254551
11AIPNM_003977.2(AIP): c.241C> T (p.Arg81Ter)single nucleotide variantPathogenicrs267606541GRCh37Chr 11, 67254618: 67254618
12AIPNM_003977.2(AIP): c.244_248delGAAGG (p.Glu82Glyfs)deletionLikely pathogenicrs267606542GRCh37Chr 11, 67254621: 67254625
13AIPNM_003977.2(AIP): c.249G> T (p.Gly83=)single nucleotide variantLikely pathogenicrs104895072GRCh37Chr 11, 67254626: 67254626
14AIPNM_003977.2(AIP): c.250G> A (p.Glu84Lys)single nucleotide variantLikely pathogenicrs267606543GRCh37Chr 11, 67254627: 67254627
15AIPNM_003977.2(AIP): c.280-1G> Asingle nucleotide variantLikely pathogenicrs267606544GRCh37Chr 11, 67256737: 67256737
16AIPNM_003977.2(AIP): c.286_287delGT (p.Val96Profs)deletionLikely pathogenicrs267606545GRCh37Chr 11, 67256744: 67256745
17AIPNM_003977.2(AIP): c.2T> C (p.Met1Thr)single nucleotide variantLikely pathogenicrs267606546GRCh37Chr 11, 67250631: 67250631
18AIPNM_003977.2(AIP): c.308A> G (p.Lys103Arg)single nucleotide variantLikely pathogenicrs267606548GRCh37Chr 11, 67256766: 67256766
19AIPNM_003977.2(AIP): c.350delG (p.Gly117Alafs)deletionLikely pathogenicrs267606549GRCh37Chr 11, 67256808: 67256808
20AIPNM_003977.2(AIP): c.3_4insC (p.Ala2Argfs)insertionLikely pathogenicrs267606547GRCh37Chr 11, 67250632: 67250633
21AIPNM_003977.2(AIP): c.404delA (p.His135Leufs)deletionLikely pathogenicrs267606551GRCh37Chr 11, 67256862: 67256862
22AIPNM_003977.2(AIP): c.424C> T (p.Gln142Ter)single nucleotide variantLikely pathogenicrs267606552GRCh37Chr 11, 67256882: 67256882
23AIPNM_003977.2(AIP): c.468+1G> Asingle nucleotide variantLikely pathogenicrs267606554GRCh37Chr 11, 67256927: 67256927
24AIPNM_003977.2(AIP): c.469-2A> Gsingle nucleotide variantLikely pathogenicrs267606556GRCh37Chr 11, 67257507: 67257507
25AIPNM_003977.2(AIP): c.490C> T (p.Gln164Ter)single nucleotide variantLikely pathogenicrs104895073GRCh37Chr 11, 67257530: 67257530
26AIPNM_003977.2(AIP): c.500delC (p.Pro167Hisfs)deletionLikely pathogenicrs267606557GRCh37Chr 11, 67257540: 67257540
27AIPNM_003977.2(AIP): c.517_521delGAAGA (p.Glu174Glyfs)deletionLikely pathogenicrs267606558GRCh37Chr 11, 67257557: 67257561
28AIPNM_003977.2(AIP): c.550C> T (p.Gln184Ter)single nucleotide variantLikely pathogenicrs267606560GRCh37Chr 11, 67257590: 67257590
29AIPNM_003977.2(AIP): c.584T> C (p.Val195Ala)single nucleotide variantLikely pathogenicrs267606561GRCh37Chr 11, 67257624: 67257624
30AIPNM_003977.2(AIP): c.591G> A (p.Glu197=)single nucleotide variantLikely pathogenicrs202006716GRCh37Chr 11, 67257631: 67257631
31AIPNM_003977.2(AIP): c.601A> T (p.Lys201Ter)single nucleotide variantLikely pathogenicrs267606563GRCh37Chr 11, 67257641: 67257641
32AIPNM_003977.2(AIP): c.646G> T (p.Glu216Ter)single nucleotide variantLikely pathogenicrs267606565GRCh37Chr 11, 67257787: 67257787
33AIPNM_003977.2(AIP): c.649C> T (p.Gln217Ter)single nucleotide variantLikely pathogenicrs267606566GRCh37Chr 11, 67257790: 67257790
34AIPNM_003977.2(AIP): c.662dupC (p.Glu222Terfs)duplicationLikely pathogenicrs104895075GRCh37Chr 11, 67257803: 67257804
35AIPNM_003977.2(AIP): c.70G> T (p.Glu24Ter)single nucleotide variantLikely pathogenicrs267606568GRCh37Chr 11, 67250699: 67250699
36AIPNM_003977.2(AIP): c.713G> A (p.Cys238Tyr)single nucleotide variantLikely pathogenicrs267606569GRCh37Chr 11, 67257854: 67257854
37AIPNM_003977.2(AIP): c.715C> T (p.Gln239Ter)single nucleotide variantLikely pathogenicrs267606571GRCh37Chr 11, 67257856: 67257856
38AIPNM_003977.2(AIP): c.721A> G (p.Lys241Glu)single nucleotide variantPathogenicrs267606573GRCh37Chr 11, 67257862: 67257862
39AIPNM_003977.2(AIP): c.721A> T (p.Lys241Ter)single nucleotide variantLikely pathogenicrs267606573GRCh37Chr 11, 67257862: 67257862
40AIPNM_003977.2(AIP): c.742_744delTAC (p.Tyr248del)deletionLikely pathogenicrs267606574GRCh37Chr 11, 67257883: 67257885
41AIPNM_003977.2: c.74_81delTCCCGGACins7indelLikely pathogenicGRCh37Chr 11, 67250703: 67250710
42AIPNM_003977.2(AIP): c.769A> G (p.Ile257Val)single nucleotide variantLikely pathogenicrs267606575GRCh37Chr 11, 67257910: 67257910
43AIPNM_003977.2(AIP): c.803A> G (p.Tyr268Cys)single nucleotide variantLikely pathogenicrs267606577GRCh37Chr 11, 67258274: 67258274
44AIPNM_003977.2(AIP)duplicationPathogenicrs267606578GRCh37Chr 11, 67258296: 67258297
45AIPNM_003977.2(AIP): c.807C> T (p.Phe269=)single nucleotide variantPathogenicrs139407567GRCh37Chr 11, 67258278: 67258278
46AIPNM_003977.2(AIP): c.811C> T (p.Arg271Trp)single nucleotide variantPathogenicrs267606579GRCh37Chr 11, 67258282: 67258282
47AIPNM_003977.2(AIP): c.829G> C (p.Ala277Pro)single nucleotide variantLikely pathogenicrs267606581GRCh37Chr 11, 67258300: 67258300
48AIPNM_003977.2(AIP): c.854_857delAGGC (p.Gln285Leufs)deletionLikely pathogenicrs267606582GRCh37Chr 11, 67258325: 67258328
49AIPNM_003977.2(AIP): c.919dupC (p.Gln307Profs)duplicationLikely pathogenicrs267606589GRCh37Chr 11, 67258390: 67258391
50AIPNM_003977.2(AIP): c.-220G> Asingle nucleotide variantLikely pathogenicrs267606540GRCh37Chr 11, 67250410: 67250410
51AIPNM_003977.2(AIP): c.880_891delCTGGACCCAGCC (p.Asp295_Leu298del)deletionLikely pathogenicrs267606585GRCh37Chr 11, 67258351: 67258362
52AIPNM_003977.2(AIP): c.40C> T (p.Gln14Ter)single nucleotide variantPathogenicrs104894194GRCh37Chr 11, 67250669: 67250669
53AIPNM_003977.2(AIP): c.469-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs267606555GRCh37Chr 11, 67257508: 67257508
54AIPNM_003977.2(AIP): c.910C> T (p.Arg304Ter)single nucleotide variantPathogenicrs104894195GRCh37Chr 11, 67258381: 67258381
55AIPNM_003977.2(AIP): c.66_71delAGGAGA (p.Gly23_Glu24del)deletionLikely pathogenic, Pathogenicrs267606567GRCh37Chr 11, 67250695: 67250700
56AIPNM_003977.2(AIP): c.824dupA (p.His275Glnfs)duplicationLikely pathogenic, Pathogenicrs267606580GRCh37Chr 11, 67258295: 67258296
57AIPNM_003977.2(AIP): c.542delT (p.Ile182Serfs)deletionLikely pathogenic, Pathogenicrs267606559GRCh37Chr 11, 67257582: 67257582
58AIPNM_003977.2(AIP): c.804C> A (p.Tyr268Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121908356GRCh37Chr 11, 67258275: 67258275
59AIPNM_003977.2(AIP): c.64C> T (p.Arg22Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121908357GRCh37Chr 11, 67250693: 67250693

Expression for genes affiliated with Pituitary Adenoma, Growth Hormone-Secreting

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

Pathways for genes affiliated with Pituitary Adenoma, Growth Hormone-Secreting

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Compounds for genes affiliated with Pituitary Adenoma, Growth Hormone-Secreting

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Sources:
43Novoseek, 59Tocris Bioscience, 28IUPHAR, 12DrugBank, 24HMDB
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Compounds related to Pituitary Adenoma, Growth Hormone-Secreting according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1octreotide43 59 28 1212.1GNAS, SSTR5
2acth439.0GNAS, SSTR5
3thymidine43 2410.0GNAS, SSTR5
4ribonucleic acid438.9SSTR5, GNAS
5dopamine43 28 24 1211.7GNAS, SSTR5

GO Terms for genes affiliated with Pituitary Adenoma, Growth Hormone-Secreting

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

idNameGO IDScoreTop Affiliating Genes
1regulation of insulin secretionGO:00507969.0SSTR5, GNAS

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

idNameGO IDScoreTop Affiliating Genes
1signal transducer activityGO:00048719.1GNAS, AIP

Products for genes affiliated with Pituitary Adenoma, Growth Hormone-Secreting

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Sources for Pituitary Adenoma, Growth Hormone-Secreting

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet