MCID: ACR007
MIFTS: 79

Acromegaly malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Cancer diseases categories

Summaries for Acromegaly

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NIH Rare Diseases:43 Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (gh). it is most often diagnosed in middle-aged adults, although symptoms can appear at any age. signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that alter various facial features; arthritis; carpal tunnel syndrome; enlargement of body organs; and various other symptoms. the condition is usually caused by benign tumors on the pituitary called adenomas. rarely, it is caused by tumors of the pancreas, lungs, and other parts of the brain. acromegaly is usually treatable but when left untreated, it can result in serious illness and premature death. when gh-producing tumors occur in childhood, the disease that results is called gigantism rather than acromegaly. last updated: 4/29/2011

MalaCards based summary: Acromegaly, also known as somatotroph adenoma, is related to pituitary apoplexy and gigantism, and has symptoms including tall stature, abnormality of the tongue and thick lower lip vermilion. An important gene associated with Acromegaly is AIP (aryl hydrocarbon receptor interacting protein), and among its related pathways are Translation Insulin regulation of translation and Salivary secretion. The drugs bromocriptine and octreotide and the compounds quinagolide and vapreotide have been mentioned in the context of this disorder. Affiliated tissues include limb, pituitary and bone, and related mouse phenotypes are integument and liver/biliary system.

Disease Ontology:10 A disease of metabolism that has material basis in excessive growth hormone production which results in enlargement located in limb.

Wikipedia:65 Acromegaly (/? more...

Aliases & Classifications for Acromegaly

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Sources:
10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 12DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 57SNOMED-CT, 40NCIt, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Acromegaly, Aliases & Descriptions:

Name: Acromegaly 10 11 43 12 45 49 62
Somatotroph Adenoma 43 62
Pituitary Adenoma, Familial Isolated 62
Growth Hormone Excess 43
Somatotropic Adenoma 43
 
Pituitary Gigantism 62
Somatotropinoma 43
Pituitary Giant 43
Fipa 62


Classifications:



Characteristics (Orphanet epidemiological data):

49
acromegaly:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Worldwide),1-9/100000 (Worldwide),1-9/100000 (Spain),1-9/100000 (Italy),1-9/100000 (United Kingdom),1-9/1000000 (Belgium),1-9/100000 (Belgium),1-5/10000 (Germany),1-9/100000 (Croatia),1-9/1000000 (Ireland),1-9/100000 (Ireland),1-9/1000000 (Finland),1-9/1000000 (Korea, Republic of),1-9/100000 (Korea, Republic of); Age of onset: Adult


External Ids:

Disease Ontology10 DOID:2449
MeSH35 D000172
NCIt40 C84533
Orphanet49 963
MESH via Orphanet36 D000172
ICD10 via Orphanet28 E22.0
UMLS via Orphanet63 C0001206

Related Diseases for Acromegaly

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Diseases related to Acromegaly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 222)
idRelated DiseaseScoreTop Affiliating Genes
1pituitary apoplexy31.0PRL
2gigantism30.9AIP, IGF1, GH1, SST, PRL, GNAS
3adenoma30.7GHRL, GH1, GHSR, GAL, GGH, TRHR
4pituitary adenoma30.7TRHR, GAL, GHSR, AIP, IGF1, GNAS
5growth hormone deficiency30.5GHSR, GH1, GHRL, GHRHR, GHR, GHRH
6cushing's syndrome30.5SST, GH1
7pituitary tumors30.5AIP, IGF1, GNAS, PRL, SSTR5, SST
8neuroendocrine tumor30.4PRL, GHRH, SST, SSTR2
9hyperprolactinemia30.4SST, PRL, GNAS, IGF1, GHRH, GH1
10fibrous dysplasia30.4GNAS, GHR, GH1
11prolactinoma30.4GHSR, GH1, GHRHR, SSTR2, SST, SSTR5
12empty sella syndrome30.3PRL
13amenorrhea30.3PRL, IGF1
14hypopituitarism30.3GH1, GHRL, GHR, GHRH, SST, PRL
15multiple endocrine neoplasia 130.2SST, AIP
16mccune-albright syndrome, somatic, mosaic30.2GNAS
17pituitary gigantism30.2IGFBP3, IGF1, GH1, SST, PRL
18hepatitis30.2GAL, IGFBP1, GHR
19dwarfism30.1IGF1, GHRH, GHR, GHRHR, GH1, IGFBP3
20pituitary carcinoma30.1PRL
21glucose intolerance30.1GHRL, IGFBP1, IGF1, GH1, IGFBP3
22chromophobe adenoma30.1PRL, GH1
23nelson syndrome30.1PRL, SST
24zollinger-ellison syndrome30.1GHRH, SST
25diabetes insipidus30.1PRL, GHRH
26hypothyroidism30.0GHRL, IGFBP3
27hypogonadism30.0GHRL, GH1, PRL, IGFBP3, IGF1
28hypoglycemia29.9GAL, GH1, GHRL, GHR, GHRH, SST
29rabson-mendenhall syndrome29.9IGF1, IGFBP3
30hypothalamic disease29.9PRL, GH1
31acth deficiency29.9PRL, GH1
32craniopharyngioma29.9GH1, IGF1, PRL
33turner syndrome29.8IGF1, GHR, IGFBP3
34carcinoid syndrome29.8GNAS, SSTR5, SST, SSTR2, GHRH, GHRL
35liver cirrhosis29.8GHR, GHRH, IGFBP3
36osteoporosis29.8IGFBP3, GH1, IGF1, GHR
37uremia29.8IGF1, IGFBP1, GH1, GHR
38prostate cancer29.8GHRHR, GHR, IGF1, GHRH, IGFBP3
39colorectal cancer29.8SSTR2, GAL, GHRL, IGFBP3, IGF1
40pheochromocytoma29.8SST, GNAS, SSTR5, SSTR2, GAL
41polycystic ovary syndrome29.7GH1, IGFBP1, GHRL, PRL, IGF1, IGFBP3
42adenocarcinoma29.7SST, IGFBP1, SSTR2, GHRL, GHR, GAL
43hyperandrogenism29.7IGFBP3, IGF1, IGFBP1, GNAS, PRL, GH1
44hyperglycemia29.6IGFBP3, IGF1, IGFBP1, SST, GHRH, GHR
45hyperthyroidism29.6TRHR, GAL, IGF1, GNAS, PRL, SST
46breast cancer29.6GH1, GHRH, GHRHR, IGFBP1, GGH, IGF1
47obesity29.6GHRH, GNAS, IGFBP3, IGF1, GAL, GHSR
48insulin-like growth factor i10.7
49thyroiditis10.5
50pancreatitis10.4

Graphical network of the top 20 diseases related to Acromegaly:



Diseases related to acromegaly

Symptoms for Acromegaly

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Symptoms:

 49 (show all 52)
  • broad forehead
  • coarse face
  • broad cheeks/cherub-like/cherubin face
  • prognathism/prognathia
  • broad nose/nasal bridge
  • thick lips
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • deep palmar creases
  • macrodactyly/fingers hypertrophy/megalodactyly (hand)
  • broad foot
  • abnormal sole/deep creases
  • hyperhidrosis/increased sweating
  • thick skin/pachydermia/orange skin
  • anomalies of the endocrine glands
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • articular/joint pain/arthralgia
  • hydrarthrosis/articular/joint effusion
  • osteoarthritis
  • autosomal dominant inheritance
  • tall stature/gigantism/growth acceleration
  • asthenia/fatigue/weakness
  • frontal bossing/prominent forehead
  • enlargment of jaw/large jaw
  • synophris/synophrys
  • puffy eyelids
  • anomalies of teeth and dentition
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • kyphosis
  • rachidian/spine canal stenosis
  • hirsutism/hypertrichosis/increased body hair
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • apnea/sleep apnea
  • abnormal cry/voice/phonation disorder/nasal speech
  • chronic arterial hypertension
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • diabetes mellitus
  • facial pain/cephalalgia/migraine
  • acute palsy
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • pituitary/hypophyseal neoplasm/tumor/carcinoma/cancer
  • acne/acnea
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • acanthosis nigricans
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • cardiomyopathy/hypertrophic/dilated
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • functional anomalies of the genital system
  • impotence/painful erection/priapism/erection troubles
  • galactorrhea
  • somnolence/hypersomnia/parasomnia

HPO human phenotypes related to Acromegaly:

(show all 45)
id Description Frequency HPO Source Accession
1 tall stature hallmark (90%) HP:0000098
2 abnormality of the tongue hallmark (90%) HP:0000157
3 thick lower lip vermilion hallmark (90%) HP:0000179
4 coarse facial features hallmark (90%) HP:0000280
5 full cheeks hallmark (90%) HP:0000293
6 mandibular prognathia hallmark (90%) HP:0000303
7 broad forehead hallmark (90%) HP:0000337
8 abnormality of the nose hallmark (90%) HP:0000366
9 anterior hypopituitarism hallmark (90%) HP:0000830
10 hyperhidrosis hallmark (90%) HP:0000975
11 joint swelling hallmark (90%) HP:0001386
12 broad foot hallmark (90%) HP:0001769
13 deep plantar creases hallmark (90%) HP:0001869
14 osteoarthritis hallmark (90%) HP:0002758
15 arthralgia hallmark (90%) HP:0002829
16 deep palmar crease hallmark (90%) HP:0006191
17 macrodactyly of finger hallmark (90%) HP:0100746
18 abnormality of the menstrual cycle typical (50%) HP:0000140
19 abnormality of the teeth typical (50%) HP:0000164
20 synophrys typical (50%) HP:0000664
21 behavioral abnormality typical (50%) HP:0000708
22 diabetes mellitus typical (50%) HP:0000819
23 hypertension typical (50%) HP:0000822
24 abnormality of the fingernails typical (50%) HP:0001231
25 abnormality of the voice typical (50%) HP:0001608
26 frontal bossing typical (50%) HP:0002007
27 migraine typical (50%) HP:0002076
28 apnea typical (50%) HP:0002104
29 kyphosis typical (50%) HP:0002808
30 paresthesia typical (50%) HP:0003401
31 spinal canal stenosis typical (50%) HP:0003416
32 abnormality of the toenail typical (50%) HP:0008388
33 cerebral palsy typical (50%) HP:0100021
34 palpebral edema typical (50%) HP:0100540
35 neoplasm of the endocrine system typical (50%) HP:0100568
36 abnormality of reproductive system physiology occasional (7.5%) HP:0000080
37 acanthosis nigricans occasional (7.5%) HP:0000956
38 acne occasional (7.5%) HP:0001061
39 abnormality of the mitral valve occasional (7.5%) HP:0001633
40 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
41 reduced consciousness/confusion occasional (7.5%) HP:0004372
42 generalized hyperpigmentation occasional (7.5%) HP:0007440
43 abnormal renal physiology occasional (7.5%) HP:0012211
44 erectile abnormalities occasional (7.5%) HP:0100639
45 galactorrhea occasional (7.5%) HP:0100829

Drugs & Therapeutics for Acromegaly

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Drug clinical trials:

Search ClinicalTrials for Acromegaly

Search NIH Clinical Center for Acromegaly

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Acromegaly

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Anatomical Context for Acromegaly

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MalaCards organs/tissues related to Acromegaly:

33
Pituitary, Bone, Testes, Brain, Pancreas, Lung, Skin, Thyroid, Tongue, Colon, Heart, Endothelial, Liver, Ovary, Prostate, Skeletal muscle, Kidney, Breast, Cervix, Myeloid, Pancreatic islet, Spinal cord, Adipocyte, Uterus, Tonsil, Hypothalamus

FMA organs/tissues related to Acromegaly:

16
Limb

Animal Models for Acromegaly or affiliated genes

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MGI Mouse Phenotypes related to Acromegaly:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1IGF1, GNAS, GHRHR, GHR, PRL, GAL
2MP:00053708.1IGFBP3, GHRH, GH1, GHR, PRL, GNAS
3MP:00053878.1GHR, GHRHR, SST, PRL, GNAS, IGFBP1
4MP:00053757.8IGFBP3, IGF1, GNAS, GHR, GHRHR, GHRL
5MP:00053897.6GAL, GH1, GHRHR, GHR, TRHR, IGF1
6MP:00036317.6GAL, GHRHR, GHR, GH1, GHRH, SST
7MP:00053796.7GHR, AIP, IGFBP3, IGF1, SSTR5, GAL
8MP:00053786.6GAL, AIP, IGFBP3, IGF1, GHRHR, TRHR
9MP:00053866.2GHRL, GHRHR, GHR, SST, PRL, GNAS
10MP:00053765.2GH1, SSTR2, GHR, SST, GHRHR, GHRL

Publications for Acromegaly

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Articles related to Acromegaly:

(show top 50)    (show all 1365)
idTitleAuthorsYear
1
Tear Osmolarity and Tear Function Changes in Patients with Acromegaly. (25310803)
2014
2
Acromegaly: assessing the disorder and navigating therapeutic options for treatment. (25374336)
2014
3
A consensus on the diagnosis and treatment of acromegaly complications. (22903574)
2013
4
Acromegaly and oxidative stress: impact on endothelial dysfunction and atherosclerosis. (23608960)
2013
5
Neurocognitive function in acromegaly after surgical resection of GH-secreting adenoma versus naA^ve acromegaly. (23593161)
2013
6
Long-term efficacy and safety of subcutaneous pasireotide in acromegaly: results from an open-ended, multicenter, Phase II extension study. (23529827)
2013
7
A case of acromegaly complicated with diabetic ketoacidosis, pituitary apoplexy, and lymphoma. (24296058)
2013
8
Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation. (21744088)
2012
9
Preoperative lanreotide treatment improves outcome in patients with acromegaly resulting from invasive pituitary macroadenoma. (22613412)
2012
10
Duodenal adenocarcinoma with neuroendocrine features in a patient with acromegaly and thyroid papillary adenocarcinoma: a unique combination of endocrine neoplasia. (22673565)
2012
11
Invasive sphenocavernous aspergilloma complicating an operated case of acromegaly. (23984200)
2011
12
Acromegaly caused by ectopic growth hormone-releasing hormone production from a bronchial carcinoid tumor. (21480145)
2011
13
Arthropathy in long-term cured acromegaly is characterised by osteophytes without joint space narrowing: a comparison with generalised osteoarthritis. (21131647)
2011
14
Conventional and novel biomarkers of treatment outcome in patients with acromegaly: discordant results after somatostatin analog treatment compared with surgery. (20813787)
2010
15
N-terminal pro-brain natriuretic peptide in newly diagnosed acromegaly. (20930495)
2010
16
Lanreotide for the treatment of acromegaly. (19533047)
2009
17
The effect of acute application of pegvisomant alone and in combination with octreotide on endogenous GH levels during a 6-h test in patients with acromegaly on constant pegvisomant treatment. (19109045)
2009
18
Dynamic tests for the diagnosis and assessment of treatment efficacy in acromegaly. (18418712)
2008
19
Acromegaly and anaplastic astrocytoma: coincidence or pathophysiological relation? (18000757)
2008
20
Acromegaly. (18578866)
2008
21
Medical treatment of acromegaly: comorbidities and their reversibility by somatostatin analogs. (17047390)
2006
22
Acromegaly: molecular expression of somatostatin receptor subtypes and treatment outcome. (16809928)
2006
23
Predictors and rates of treatment-resistant tumor growth in acromegaly. (16061822)
2005
24
Glucose homeostasis and safety in patients with acromegaly converted from long-acting octreotide to pegvisomant. (16076947)
2005
25
Alternate-day administration of pegvisomant maintains normal serum insulin-like growth factor-I levels in patients with acromegaly. (15585549)
2005
26
Postoperative evaluation of patients with acromegaly: clinical significance and timing of oral glucose tolerance testing and measurement of (free) insulin-like growth factor I, acid-labile subunit, and growth hormone-binding protein levels. (16159936)
2005
27
A critical analysis of pituitary tumor shrinkage during primary medical therapy in acromegaly. (15827109)
2005
28
GH and mortality in acromegaly. (16625851)
2005
29
Cotreatment of acromegaly with a somatostatin analog and a growth hormone receptor antagonist. (16046586)
2005
30
Cardiovascular complications in acromegaly. (15282442)
2004
31
Pegvisomant: a new treatment modality for acromegaly. (16982575)
2004
32
Octreotide long-acting release (LAR): a review of its use in the management of acromegaly. (14609359)
2003
33
Elevated intraocular levels of insulin-like growth factor I in a diabetic patient with acromegaly. (12029573)
2002
34
Experience with pegvisomant in the treatment of acromegaly. (11527081)
2001
35
Alterations of haemostatic and fibrinolytic markers in adult patients with growth hormone deficiency and with acromegaly. (11083070)
2000
36
Lanreotide 60 mg, a longer-acting somatostatin analog: tumor shrinkage and hormonal normalization in acromegaly. (11788011)
2000
37
The Birmingham pituitary database: auditing the outcome of the treatment of acromegaly. (8548933)
1995
38
Assessment of GH status in acromegaly using serum growth hormone, serum insulin-like growth factor-1 and urinary growth hormone excretion. (7750196)
1995
39
The magnitude of growth hormone elevation is related with the proportion of monomeric form in acromegaly. (8845645)
1995
40
Acute effects of a single administration of dexamethasone on basal and growth hormone-releasing hormone stimulated GH secretion in acromegaly. (8137516)
1994
41
Octreotide long term treatment of acromegaly: effect of drug withdrawal on serum growth hormone/insulin-like growth factor-I concentrations and on serum gastrin/24-hour intragastric pH values. (8325938)
1993
42
Effect of long-term treatment with bromocriptine on the growth hormone response to galanin in patients with acromegaly. (7680832)
1993
43
Pituitary adenomas of patients with acromegaly express thyrotropin- releasing hormone receptor messenger RNA: cloning and functional expression of the human thyrotropin-releasing hormone receptor gene. (8396925)
1993
44
Clinical experience of octreotide in the treatment of acromegaly. (1358345)
1992
45
A marked molecular heterogeneity of growth hormone (GH) detected in the plasma but not pituitary of a patient with acromegaly: comparison with other acromegalics and an implication for discrepant plasma levels of GH and insulin-like growth factor. (1506622)
1992
46
Impact of octreotide, a long-acting somatostatin analogue, on glucose tolerance and insulin sensitivity in acromegaly. (1563080)
1992
47
The relationship between TSH response to TRH and GH response to dopaminergic agents in patients with acromegaly]. (1674920)
1991
48
Resistance to a long-acting somatostatin analog (SMS 201-995) reversed by surgery in acromegaly. (2273211)
1990
49
Short term treatment of acromegaly with the somatostatin analog octreotide: the first double-blind randomized placebo-controlled study on its effects. (2229278)
1990
50
Somatostatin analog treatment of acromegaly: new aspects. (2900190)
1988

Variations for Acromegaly

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Clinvar genetic disease variations for Acromegaly:

7 (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

Cosmic variations for Acromegaly:

8
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
127899GNASpituitary,NS,adenoma,GH3
227889GNASpituitary,NS,adenoma,GH3
349087GNASpituitary,NS,adenoma,GH3
427895GNASpituitary,NS,adenoma,GH3
527893GNASpituitary,NS,adenoma,GH3
627887GNASpituitary,NS,adenoma,GH3
7483HRASpituitary,NS,adenoma,GH3

Expression for genes affiliated with Acromegaly

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Search GEO for disease gene expression data for Acromegaly.

Pathways for genes affiliated with Acromegaly

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Pathways related to Acromegaly according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.9IGFBP3, GNAS
2
Show member pathways
9.7SSTR2, SST, GNAS
39.7GHR, GH1, IGF1
49.7GHRHR, GHRH, GNAS
59.6PRL, GHR, GH1
6
Show member pathways
9.6PRL, GH1, GHR
7
Show member pathways
Type III interferon signaling38
9.6GHR, GH1, PRL
8
Show member pathways
9.4PRL, GH1, GHR, IGF1
99.4GH1, GHR, IGF1, PRL
109.3IGFBP1, IGF1, IGFBP3
11
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
9.3IGF1, IGFBP3, IGFBP1
12
Show member pathways
9.2GH1, GHRL, IGF1
13
Show member pathways
9.1IGF1, GHR, PRL, GHRH, GH1
148.7IGFBP1, TRHR, GHSR, GHR
15
Show member pathways
Peptide GPCRs38
8.5SSTR5, SSTR2, GHSR, TRHR, GAL
16
Show member pathways
8.3IGFBP3, GH1, GHRL, IGF1, IGFBP1
17
Show member pathways
5.8TRHR, PRL, SSTR5, SST, GNAS, SSTR2
18
Show member pathways
5.5SST, PRL, GNAS, IGF1, SSTR2, GHRH

Compounds for genes affiliated with Acromegaly

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Compounds related to Acromegaly according to GeneCards/GeneDecks:

(show top 50)    (show all 183)
idCompoundScoreTop Affiliating Genes
1quinagolide459.7IGF1, GH1, PRL, SST
2vapreotide45 30 1311.5SST, SSTR5, GHSR, SSTR2
3naltrexone45 30 51 1312.2GH1, GHRH, IGF1, IGFBP3, PRL
4cabergoline45 30 1311.1GHR, GH1, SST, PRL, IGF1, IGFBP3
5buserelin45 30 1311.0PRL, IGFBP3, IGF1, IGFBP1, SST
6clomiphene citrate459.0IGFBP3, IGF1, IGFBP1, PRL, GH1
7acipimox45 3010.0GH1, GHRL, GHRH, SST, IGF1
8oxandrolone45 139.9IGFBP3, GHRL, IGF1, GH1
9levodopa45 139.8PRL, IGF1, SST, GHR, GH1, GHRH
10androstenedione45 269.7IGF1, IGFBP1, PRL, GHR, GH1, IGFBP3
11pirenzepine45 30 1310.6GH1, GHRH, IGF1, GHRL, SST, IGFBP1
12atropine45 30 1310.5GAL, GHRL, GHRH, SST, GH1
13clonidine45 51 30 1311.5IGFBP3, IGF1, PRL, SST, GHRH, GHR
14bromocriptine45 30 1310.5IGFBP3, PRL, GHR, GHRH, SST, GH1
15tamoxifen45 51 30 1311.2PRL, GH1, GHR, IGF1, GHRH, SSTR2
16dihydrotestosterone45 30 26 1311.2GHR, IGFBP3, IGF1, PRL, GH1, IGFBP1
17hydrocortisone45 3 61 1311.0GHRL, GH1, GHSR, PRL, IGFBP1, IGF1
18dehydroepiandrosterone sulfate458.0GH1, IGFBP3, PRL, GHR, GHRL, IGFBP1
19naloxone45 30 51 1311.0PRL, SST, GHRH, GH1, GAL, GGH
20progesterone45 30 61 26 1311.9SSTR2, IGF1, IGFBP3, IGFBP1, GHR, GH1
21pegvisomant45 138.9GH1, GHRL, GHR, GHRH, SST, IGFBP1
22dhea457.8IGFBP3, IGF1, IGFBP1, PRL, GAL, GH1
23triiodothyronine457.8GHRL, GHR, GHRH, PRL, GH1, IGFBP1
24steroid457.8GHSR, GH1, GHR, IGFBP3, IGFBP1, GNAS
25c-peptide457.7IGF1, IGFBP3, GH1, IGFBP1, SST, GHR
26vitamin d457.6IGFBP3, IGFBP1, GHR, GHRL, GH1, IGF1
27thyroxine45 268.6IGFBP3, IGF1, IGFBP1, PRL, SST, GHRH
28epinephrine45 26 139.5GAL, GHRL, SST, PRL, IGFBP3, IGFBP1
29cycloheximide457.5IGF1, SST, IGFBP3, GHRH, GH1, GAL
30lanreotide45 308.4GHR, GH1, GHRH, SSTR2, SST, SSTR5
31ghrp457.4GHRH, SST, PRL, IGF1, IGFBP3, GHR
32pyridostigmine45 138.4GAL, GH1, GHRL, GHRH, SST, PRL
33norepinephrine45 26 139.4GHRL, GH1, IGFBP3, IGFBP1, GNAS, PRL
34forskolin45 51 139.3GH1, GHSR, GAL, GHRL, GHRH, SSTR2
35adenylate457.2GHRH, SST, SSTR2, GHRHR, GHRL, GHSR
36thymidine45 268.1IGFBP1, IGF1, IGFBP3, GHR, GH1, SSTR5
37estradiol45 26 138.9GHRH, IGFBP3, IGF1, GH1, GAL, GHSR
38hexarelin45 307.9GH1, GHRL, GHRHR, GHR, GAL, GHSR
39dopamine45 30 26 139.9IGF1, GNAS, PRL, SSTR5, SST, SSTR2
40glutamate456.7IGFBP3, GAL, GHRL, IGFBP1, GNAS, GGH
41testosterone45 61 26 139.7IGF1, IGFBP1, PRL, GHR, GHRL, GHRH
42gnrh456.6IGFBP1, GNAS, PRL, SST, SSTR2, GHRH
43estrogen456.6GHRH, GHR, GHRL, PRL, SSTR2, GHSR
44alanine456.4GAL, GH1, GNAS, TRHR, IGFBP3, IGFBP1
45dexamethasone45 51 30 139.4IGFBP3, GHRH, GHR, GHRHR, GHRL, GH1
46ribonucleic acid456.3IGFBP1, GNAS, PRL, SSTR5, SSTR2, GHRH
47arginine456.2GHSR, GAL, GH1, GHRL, GHRHR, IGFBP3
48acth456.0GHSR, GH1, GHRL, GAL, GHR, GHRH
49octreotide45 61 30 138.5IGFBP3, GGH, GAL, IGF1, IGFBP1, GNAS
50glucose455.4GHRH, GGH, GAL, GHSR, GH1, GHRL

GO Terms for genes affiliated with Acromegaly

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Cellular components related to Acromegaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:00169429.8IGF1, IGFBP3
2plasma membraneGO:00058867.2AIP, IGF1, GPR101, GNAS, SSTR5, SSTR2
3extracellular spaceGO:00056156.9IGFBP3, IGF1, IGFBP1, SST, GHRH, GHR
4extracellular regionGO:00055766.5GAL, IGFBP3, IGF1, IGFBP1, GNAS, PRL

Biological processes related to Acromegaly according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1water homeostasisGO:003010410.2IGF1, GHRHR
2growth hormone receptor signaling pathwayGO:006039610.2GH1, GHR
3positive regulation of tyrosine phosphorylation of Stat5 proteinGO:004252310.1IGF1, GHR, GH1
4positive regulation of cAMP biosynthetic processGO:003081910.0GHRHR, GHRH, GNAS
5insulin-like growth factor receptor signaling pathwayGO:004800910.0IGF1, GHR
6adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:000718910.0GHRHR, GHRH, GNAS
7JAK-STAT cascade involved in growth hormone signaling pathwayGO:006039710.0GHR, PRL, GH1
8positive regulation of peptidyl-tyrosine phosphorylationGO:005073110.0GH1, IGF1, GHR
9regulation of multicellular organism growthGO:004001410.0IGF1, PRL, GHR
10response to foodGO:00320949.9GHRH, GHR, GHSR
11positive regulation of JAK-STAT cascadeGO:00464279.9PRL, GH1
12cellular response to insulin stimulusGO:00328699.8GHR, GHSR, GHRHR
13positive regulation of appetiteGO:00321009.6GHRL, GHSR
14cAMP-mediated signalingGO:00199339.6GHRH, GHRHR
15negative regulation of tumor necrosis factor biosynthetic processGO:00425369.6GHSR, GHRL
16negative regulation of interleukin-6 biosynthetic processGO:00454099.5GHRL, GHSR
17negative regulation of interleukin-1 beta productionGO:00326919.5GHRL, GHSR
18response to insulinGO:00328689.5GAL, GGH, GHRHR
19adult feeding behaviorGO:00083439.5GHSR, GHRL
20positive regulation of growth hormone secretionGO:00601249.4GHRL, GHRHR, GHRH
21actin polymerization or depolymerizationGO:00081549.4GHRL, GHSR
22negative regulation of cell proliferationGO:00082859.4SST, IGF1, IGFBP3, SSTR5, SSTR2
23hormone-mediated signaling pathwayGO:00097559.4GHR, GHRL, GHSR
24negative regulation of insulin secretionGO:00466769.3GHRL, GHSR
25response to drugGO:00424939.2SST, GNAS, GAL, GGH
26decidualizationGO:00466979.2GHRL, GHSR
27response to estrogenGO:00436279.2GAL, GHRHR, GHRL
28growth hormone secretionGO:00302529.1GHRL, GHRHR, GHRH, GHSR
29positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.0GHSR, GH1, GHRHR, GHRH, IGF1, IGFBP3
30positive regulation of multicellular organism growthGO:00400188.6GHRL, GHRH, GHRHR, GHR, GHSR, GH1
31G-protein coupled receptor signaling pathwayGO:00071868.5TRHR, SSTR5, SST, GHRL, GHSR

Molecular functions related to Acromegaly according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1prolactin receptor bindingGO:000514810.0PRL, GH1
2growth factor bindingGO:00198389.9GHRHR, GHR
3somatostatin receptor activityGO:00049949.8SSTR2, SSTR5
4growth hormone-releasing hormone receptor activityGO:00165209.8GHSR, GHRHR
5peptide hormone bindingGO:00170469.6GHR, GHRHR, GHSR
6hormone activityGO:00051799.6GH1, SST, PRL, IGF1
7growth hormone-releasing hormone activityGO:00166089.5GHRL, GHRH
8insulin-like growth factor bindingGO:00055209.2IGFBP1, IGFBP3

Products for genes affiliated with Acromegaly

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Acromegaly

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet