MCID: ACR007
MIFTS: 69

Acromegaly malady

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

Aliases & Classifications for Acromegaly

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 33MeSH, 56SNOMED-CT, 39NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Acromegaly:

Name: Acromegaly 8 9 42 10 44 48 61
Growth Hormone-Secreting Pituitary Adenoma 61
Growth Hormone Excess 42
Somatotropic Adenoma 42
 
Somatotroph Adenoma 42
Somatotrophinoma 61
Pituitary Giant 42
Somatotropinoma 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
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 Ontology8 DOID:2449
MeSH33 D000172
NCIt39 C84533
Orphanet48 963
MESH via Orphanet34 D000172
ICD10 via Orphanet26 E22.0
UMLS via Orphanet62 C0001206

Summaries for Acromegaly

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NIH Rare Diseases:42 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 growth hormone-secreting pituitary adenoma, is related to pituitary apoplexy and cushing's syndrome, 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:8 A disease of metabolism that has material basis in excessive growth hormone production which results in enlargement located in limb.

Wikipedia:64 Acromegaly (/? more...

Related Diseases for Acromegaly

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

(show top 50)    (show all 224)
idRelated DiseaseScoreTop Affiliating Genes
1pituitary apoplexy31.7PRL
2cushing's syndrome31.1SST, GH1
3empty sella syndrome31.0PRL
4pituitary carcinoma30.8PRL
5neuroendocrine tumor30.8PRL, GHRH, SST, SSTR2
6amenorrhea30.7PRL, IGF1
7multiple endocrine neoplasia 130.7SST, AIP
8gigantism30.7AIP, IGF1, GH1, SST, PRL, GNAS
9chromophobe adenoma30.7PRL, GH1
10mccune-albright syndrome, somatic, mosaic30.6GNAS
11nelson syndrome30.6PRL, SST
12zollinger-ellison syndrome30.6GHRH, SST
13diabetes insipidus30.6PRL, GHRH
14fibrous dysplasia30.5GNAS, GHR, GH1
15rabson-mendenhall syndrome30.4IGF1, IGFBP3
16hypothalamic disease30.4PRL, GH1
17pituitary gigantism30.4IGFBP3, IGF1, GH1, SST, PRL
18acth deficiency30.3PRL, GH1
19craniopharyngioma30.3GH1, IGF1, PRL
20hepatitis30.3GAL, IGFBP1, GHR
21turner syndrome30.3IGF1, GHR, IGFBP3
22dwarfism30.2IGF1, GHRH, GHR, GHRHR, GH1, IGFBP3
23hypothyroidism30.1GHRL, IGFBP3
24liver cirrhosis30.1GHR, GHRH, IGFBP3
25osteoporosis30.1IGFBP3, GH1, IGF1, GHR
26hypogonadism30.0GHRL, GH1, PRL, IGFBP3, IGF1
27hyperprolactinemia30.0SST, PRL, GNAS, IGF1, GHRH, GH1
28uremia30.0IGF1, IGFBP1, GH1, GHR
29hypopituitarism29.9GH1, GHRL, GHR, GHRH, SST, PRL
30glucose intolerance29.9GHRL, IGFBP1, IGF1, GH1, IGFBP3
31prostate cancer29.9GHRHR, GHR, IGF1, GHRH, IGFBP3
32growth hormone deficiency29.6GHSR, GH1, GHRL, GHRHR, GHR, GHRH
33colorectal cancer29.6SSTR2, GAL, GHRL, IGFBP3, IGF1
34pheochromocytoma29.6SST, GNAS, SSTR5, SSTR2, GAL
35polycystic ovary syndrome29.4GH1, IGFBP1, GHRL, PRL, IGF1, IGFBP3
36adenocarcinoma29.3SST, IGFBP1, SSTR2, GHRL, GHR, GAL
37hyperandrogenism29.2IGFBP3, IGF1, IGFBP1, GNAS, PRL, GH1
38prolactinoma29.1GHSR, GH1, GHRHR, SSTR2, SST, SSTR5
39hypoglycemia28.9GAL, GH1, GHRL, GHR, GHRH, SST
40pituitary adenoma28.8TRHR, GAL, GHSR, AIP, IGF1, GNAS
41carcinoid syndrome28.7GNAS, SSTR5, SST, SSTR2, GHRH, GHRL
42hyperglycemia28.7IGFBP3, IGF1, IGFBP1, SST, GHRH, GHR
43pituitary tumors28.6AIP, IGF1, GNAS, PRL, SSTR5, SST
44hyperthyroidism28.5TRHR, GAL, IGF1, GNAS, PRL, SST
45breast cancer28.4GH1, GHRH, GHRHR, IGFBP1, GGH, IGF1
46obesity28.3GHRH, GNAS, IGFBP3, IGF1, GAL, GHSR
47adenoma28.1GHRL, GH1, GHSR, GAL, GGH, TRHR
48insulin-like growth factor i10.7
49pituitary hypoplasia10.5GHRH, GHRHR
50gonadal disease10.5IGF1, GH1

Graphical network of the top 20 diseases related to Acromegaly:



Diseases related to acromegaly

Symptoms for Acromegaly

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Symptoms:

 48 (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 UMLS61/NDF-RT40:

Genetic Tests for Acromegaly

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Anatomical Context for Acromegaly

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MalaCards organs/tissues related to Acromegaly:

31
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:

14
Limb

Animal Models for Acromegaly or affiliated genes

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MGI Mouse Phenotypes related to Acromegaly:

35
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:

5 (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:

6
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 Suite gene sharing:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Transcription Receptor mediated HIF regulation59
Development CNTF receptor signaling59
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades59
Translation Regulation activity of EIF259
Regulation of lipid metabolism Insulin signaling generic cascades59
Transcription PPAR Pathway59
Cell adhesion PLAU signaling59
Translation Regulation activity of EIF4F59
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 signaling36
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
Development IGF RI signaling
Immune response IL 4 signaling pathway59
Signal transduction AKT signaling59
9.3IGF1, IGFBP3, IGFBP1
12
Show member pathways
9.2GH1, GHRL, IGF1
13
Show member pathways
9.1IGF1, GHR, PRL, GHRH, GH1
14
Show member pathways
8.3IGFBP3, GH1, GHRL, IGF1, IGFBP1
15
Show member pathways
5.8TRHR, PRL, SSTR5, SST, GNAS, SSTR2
16
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 Suite gene sharing:

(show top 50)    (show all 183)
idCompoundScoreTop Affiliating Genes
1quinagolide449.7IGF1, GH1, PRL, SST
2vapreotide44 28 1111.5SST, SSTR5, GHSR, SSTR2
3naltrexone44 28 50 1112.2GH1, GHRH, IGF1, IGFBP3, PRL
4cabergoline44 28 1111.1GHR, GH1, SST, PRL, IGF1, IGFBP3
5buserelin44 28 1111.0PRL, IGFBP3, IGF1, IGFBP1, SST
6clomiphene citrate449.0IGFBP3, IGF1, IGFBP1, PRL, GH1
7acipimox44 2810.0GH1, GHRL, GHRH, SST, IGF1
8oxandrolone44 119.9IGFBP3, GHRL, IGF1, GH1
9levodopa44 119.8PRL, IGF1, SST, GHR, GH1, GHRH
10androstenedione44 249.7IGF1, IGFBP1, PRL, GHR, GH1, IGFBP3
11pirenzepine44 28 1110.6GH1, GHRH, IGF1, GHRL, SST, IGFBP1
12atropine44 28 1110.5GAL, GHRL, GHRH, SST, GH1
13clonidine44 50 28 1111.5IGFBP3, IGF1, PRL, SST, GHRH, GHR
14bromocriptine44 28 1110.5IGFBP3, PRL, GHR, GHRH, SST, GH1
15tamoxifen44 50 28 1111.2PRL, GH1, GHR, IGF1, GHRH, SSTR2
16dihydrotestosterone44 28 24 1111.2GHR, IGFBP3, IGF1, PRL, GH1, IGFBP1
17hydrocortisone44 1 60 1111.0GHRL, GH1, GHSR, PRL, IGFBP1, IGF1
18dehydroepiandrosterone sulfate448.0GH1, IGFBP3, PRL, GHR, GHRL, IGFBP1
19naloxone44 28 50 1111.0PRL, SST, GHRH, GH1, GAL, GGH
20progesterone44 28 60 24 1111.9SSTR2, IGF1, IGFBP3, IGFBP1, GHR, GH1
21pegvisomant44 118.9GH1, GHRL, GHR, GHRH, SST, IGFBP1
22dhea447.8IGFBP3, IGF1, IGFBP1, PRL, GAL, GH1
23triiodothyronine447.8GHRL, GHR, GHRH, PRL, GH1, IGFBP1
24steroid447.8GHSR, GH1, GHR, IGFBP3, IGFBP1, GNAS
25c-peptide447.7IGF1, IGFBP3, GH1, IGFBP1, SST, GHR
26vitamin d447.6IGFBP3, IGFBP1, GHR, GHRL, GH1, IGF1
27thyroxine44 248.6IGFBP3, IGF1, IGFBP1, PRL, SST, GHRH
28epinephrine44 24 119.5GAL, GHRL, SST, PRL, IGFBP3, IGFBP1
29cycloheximide447.5IGF1, SST, IGFBP3, GHRH, GH1, GAL
30lanreotide44 288.4GHR, GH1, GHRH, SSTR2, SST, SSTR5
31ghrp447.4GHRH, SST, PRL, IGF1, IGFBP3, GHR
32pyridostigmine44 118.4GAL, GH1, GHRL, GHRH, SST, PRL
33norepinephrine44 24 119.4GHRL, GH1, IGFBP3, IGFBP1, GNAS, PRL
34forskolin44 50 119.3GH1, GHSR, GAL, GHRL, GHRH, SSTR2
35adenylate447.2GHRH, SST, SSTR2, GHRHR, GHRL, GHSR
36thymidine44 248.1IGFBP1, IGF1, IGFBP3, GHR, GH1, SSTR5
37estradiol44 24 118.9GHRH, IGFBP3, IGF1, GH1, GAL, GHSR
38hexarelin44 287.9GH1, GHRL, GHRHR, GHR, GAL, GHSR
39dopamine44 28 24 119.9IGF1, GNAS, PRL, SSTR5, SST, SSTR2
40glutamate446.7IGFBP3, GAL, GHRL, IGFBP1, GNAS, GGH
41testosterone44 60 24 119.7IGF1, IGFBP1, PRL, GHR, GHRL, GHRH
42gnrh446.6IGFBP1, GNAS, PRL, SST, SSTR2, GHRH
43estrogen446.6GHRH, GHR, GHRL, PRL, SSTR2, GHSR
44alanine446.4GAL, GH1, GNAS, TRHR, IGFBP3, IGFBP1
45dexamethasone44 50 28 119.4IGFBP3, GHRH, GHR, GHRHR, GHRL, GH1
46ribonucleic acid446.3IGFBP1, GNAS, PRL, SSTR5, SSTR2, GHRH
47arginine446.2GHSR, GAL, GH1, GHRL, GHRHR, IGFBP3
48acth446.0GHSR, GH1, GHRL, GAL, GHR, GHRH
49octreotide44 60 28 118.5IGFBP3, GGH, GAL, IGF1, IGFBP1, GNAS
50glucose445.4GHRH, GGH, GAL, GHSR, GH1, GHRL

GO Terms for genes affiliated with Acromegaly

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Cellular components related to Acromegaly according to GeneCards Suite gene sharing:

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 Suite gene sharing:

(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 Suite gene sharing:

(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

Sources for Acromegaly

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet