FIPA
MCID: ACR007
MIFTS: 80

Acromegaly (FIPA) malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Cancer diseases categories
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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 somatotroph adenoma, is related to pituitary apoplexy and mccune albright syndrome, and has symptoms including broad forehead, coarse face and broad cheeks/cherub-like/cherubin face. 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 Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drugs bromocriptine and octreotide and the compounds somatuline and acipimox have been mentioned in the context of this disorder. Affiliated tissues include limb, pituitary and bone, and related mouse phenotypes are immune system 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:65 Acromegaly (/? more...

Descriptions from OMIM:46 102200,600634

Aliases & Classifications for Acromegaly

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Acromegaly, Aliases & Descriptions:

Name: Acromegaly 8 9 42 10 44 48 62
Somatotroph Adenoma 42 62
Pituitary Gigantism 48 62
Fipa 48 62
Infantile and Juvenile Forms of Acromegaly 48
 
Pituitary Adenoma, Familial Isolated 62
Familial Isolated Pituitary Adenoma 48
Growth Hormone Excess 42
Hypophyseal Gigantism 48
Pituitary Giant 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
acromegaly:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood
fipa:
Inheritance: Autosomal dominant; Age of onset: Variable


External Ids:

Disease Ontology8 DOID:2449
MeSH34 D000172
NCIt39 C84533
MESH via Orphanet35 D000172, D005877
ICD10 via Orphanet26 E22.0, D35.2
UMLS via Orphanet63 C0001206, C0017547

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 224)
idRelated DiseaseScoreTop Affiliating Genes
1pituitary apoplexy31.6PRL
2mccune albright syndrome31.4GNAS
3cushing's syndrome31.0GH1, SST
4empty sella syndrome30.9PRL
5pituitary carcinoma30.8PRL
6fibrous dysplasia30.7GNAS, GHR, GH1
7diabetes mellitus30.7IGFBP3, IGF1, SST, GHR, GH1
8amenorrhea30.7PRL, IGF1
9gigantism30.7AIP, IGF1, GNAS, PRL, SST, GH1
10neuroendocrine tumor30.6PRL, SST, SSTR2, GHRH
11chromophobe adenoma30.6GH1, PRL
12zollinger-ellison syndrome30.6SST, GHRH
13nelson syndrome30.5SST, PRL
14diabetes insipidus30.5PRL, GHRH
15glucose intolerance30.5GH1, IGF1, IGFBP3
16carney complex30.5AIP, GNAS
17insulin resistance30.4IGFBP3, IGF1, GNAS, SST, GHR, GH1
18hepatitis30.4GHR, GAL
19hypothalamic disease30.3PRL, GH1
20rabson-mendenhall syndrome30.3IGF1, IGFBP3
21panhypopituitarism30.3IGF1, PRL, GHR, GH1
22acth deficiency30.3PRL, GH1
23uremia30.2IGF1, GHR, GH1
24proliferative diabetic retinopathy30.2GHR, SST, IGF1, IGFBP3
25craniopharyngioma30.2GH1, PRL, IGF1
26hypogonadism30.2IGFBP3, IGF1, PRL, GH1
27turner syndrome30.2IGFBP3, IGF1, GHR
28meningioma30.1SSTR5, SST, SSTR2
29dwarfism30.1IGFBP3, IGF1, GHRH, GHR, GHRHR, GH1
30growth hormone deficiency30.1GH1, GHSR, IGFBP3, IGF1, PRL, GHRH
31hypopituitarism30.0IGFBP3, IGF1, PRL, SST, GHRH, GHR
32osteoporosis30.0GH1, GHR, IGF1, IGFBP3
33polycystic ovary syndrome29.9IGFBP3, IGF1, PRL, GH1
34hyperprolactinemia29.9SST, GHRH, GH1, GAL, PRL, GNAS
35liver cirrhosis29.9IGFBP3, SST, GHRH
36prostate cancer29.7IGFBP3, IGF1, GHRH, GHR, GHRHR
37osteosarcoma29.7GHRHR, GHR, GHRH, IGF1, IGFBP3
38hyperandrogenism29.6IGFBP3, IGF1, GNAS, PRL, GH1
39pheochromocytoma29.6GNAS, SSTR5, SST, SSTR2, GAL
40type 1 diabetes mellitus29.4IGFBP3, IGF1, SST, GHRH, GHR, GH1
41hypoglycemia29.4IGFBP3, IGF1, PRL, SST, GHRH, GHR
42hyperglycemia29.1IGFBP3, IGF1, SST, GHRH, GHR, GH1
43obesity28.9IGFBP3, IGF1, GNAS, GHRH, GHR, GH1
44carcinoid syndrome28.9SSTR5, SST, SSTR2, GHRH, GH1, GHSR
45pituitary adenoma28.7SSTR2, GHRH, GHR, GHRHR, GH1, GHSR
46prolactinoma28.6AIP, IGF1, GNAS, PRL, SSTR5, SST
47hyperthyroidism28.5TRHR, IGF1, GNAS, PRL, SST, GHRH
48hypothyroidism28.5IGFBP3, IGF1, GNAS, PRL, GHRH, GHR
49pituitary tumors28.5IGF1, TRHR, GAL, GHSR, GNAS, PRL
50breast cancer28.2IGFBP3, IGF1, PRL, SSTR5, SSTR2, GHRH

Graphical network of the top 20 diseases related to Acromegaly:



Diseases related to acromegaly

Symptoms for Acromegaly

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Clinical features from OMIM:

102200,600634

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 UMLS62/NDF-RT40:

Genetic Tests for Acromegaly

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Anatomical Context for Acromegaly

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MalaCards organs/tissues related to Acromegaly:

32
Pituitary, Bone, Testes, Brain, Pancreas, Lung, Skin, Thyroid, Colon, Heart, Endothelial, Tongue, 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:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.3GNAS, PRL, SST, GHRH, GHR, GHRHR
2MP:00053708.2AIP, IGFBP3, GNAS, PRL, GHRH, GHR
3MP:00053758.2IGFBP3, IGF1, GNAS, GHR, GHRHR, GH1
4MP:00107717.7AIP, IGF1, GNAS, PRL, GHR, GHRHR
5MP:00053897.3IGF1, PRL, GHRH, GHR, GHRHR, GH1
6MP:00036317.2SST, PRL, GNAS, IGF1, SSTR2, GHRH
7MP:00053796.9AIP, IGFBP3, IGF1, GNAS, PRL, SSTR5
8MP:00053866.5IGFBP3, GNAS, PRL, SST, SSTR2, GHR
9MP:00053786.0SSTR5, GNAS, IGF1, IGFBP3, AIP, SST
10MP:00053765.3TRHR, AIP, IGFBP3, IGF1, GNAS, PRL

Publications for Acromegaly

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Articles related to Acromegaly:

(show top 50)    (show all 1344)
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
Conventional and novel biomarkers of treatment outcome in patients with acromegaly: discordant results after somatostatin analog treatment compared with surgery. (20813787)
2010
14
N-terminal pro-brain natriuretic peptide in newly diagnosed acromegaly. (20930495)
2010
15
Lanreotide for the treatment of acromegaly. (19533047)
2009
16
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
17
Dynamic tests for the diagnosis and assessment of treatment efficacy in acromegaly. (18418712)
2008
18
Acromegaly and anaplastic astrocytoma: coincidence or pathophysiological relation? (18000757)
2008
19
Blood coagulation and fibrinolysis in patients with acromegaly: increased plasminogen activator inhibitor-1 (PAI-1), decreased tissue factor pathway inhibitor (TFPI), and an inverse correlation between growth hormone and TFPI. (19016004)
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:

6 (show all 59)
id Gene Name 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 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 pathogenicrs267606567GRCh37Chr 11, 67250695: 67250700
56AIPNM_003977.2(AIP): c.824dupA (p.His275Glnfs)duplicationLikely pathogenicrs267606580GRCh37Chr 11, 67258295: 67258296
57AIPNM_003977.2(AIP): c.542delT (p.Ile182Serfs)deletionLikely pathogenicrs267606559GRCh37Chr 11, 67257582: 67257582
58AIPNM_003977.2(AIP): c.804C> A (p.Tyr268Ter)single nucleotide variantLikely pathogenicrs121908356GRCh37Chr 11, 67258275: 67258275
59AIPNM_003977.2(AIP): c.64C> T (p.Arg22Ter)single nucleotide variantLikely pathogenicrs121908357GRCh37Chr 11, 67250693: 67250693

Expression for genes affiliated with Acromegaly

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Expression patterns in normal tissues for genes affiliated with Acromegaly

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 17)
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 events37
ErbB2/ErbB3 signaling events37
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
9.7GNAS, IGFBP3
29.7IGF1, IGFBP3
3
Show member pathways
9.7GH1, GHRH, IGF1
4
Show member pathways
9.6SSTR2, SST, GNAS
59.6GH1, GHR, IGF1
6
Show member pathways
9.6GHRHR, GHRH, GNAS
79.6GHRHR, GHRH, GNAS
8
Show member pathways
9.5PRL, GHR, GH1
9
Show member pathways
Type III interferon signaling37
9.5PRL, GHR, GH1
109.5GH1, GHR, PRL
11
Show member pathways
9.2GH1, GHR, PRL, IGF1
129.2IGF1, PRL, GHR, GH1
139.2TRHR, GHSR, GHR
14
Show member pathways
8.9IGF1, PRL, GHRH, GHR, GH1
15
Show member pathways
Peptide GPCRs37
8.2SSTR5, SSTR2, GHSR, GAL, TRHR
16
Show member pathways
6.1TRHR, GNAS, PRL, SSTR5, SST, SSTR2
17
Show member pathways
5.8SST, SSTR5, PRL, GNAS, IGF1, SSTR2

Compounds for genes affiliated with Acromegaly

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Compounds related to Acromegaly according to GeneCards/GeneDecks:

(show top 50)    (show all 159)
idCompoundScoreTop Affiliating Genes
1somatuline449.8IGF1, SST, GH1
2acipimox44 2810.7GH1, IGF1, SST, GHRH
3quinagolide449.7IGF1, SST, GH1, PRL
4pirenzepine44 28 1111.6IGF1, SST, GHRH, GH1
5pasireotide44 1110.6SSTR2, SST, SSTR5
6cyn 154806619.6SSTR5, SST, SSTR2
7leuprolide acetate449.5IGF1, GH1, PRL, GHR
8(1r,1s,3r/1r,1r,3s)-l-054,264619.5SSTR5, SST, SSTR2
9vapreotide44 28 1111.5SST, SSTR5, SSTR2, GHSR
10cyclosomatostatin619.3SST, SSTR2, SSTR5
11buserelin44 28 1111.3PRL, SST, IGF1, IGFBP3
12clomiphene citrate449.2IGFBP3, PRL, IGF1, GH1
13naltrexone44 28 50 1112.1PRL, IGFBP3, IGF1, GH1, GHRH
14dehydroepiandrosterone sulfate449.0IGF1, PRL, GHR, GH1, IGFBP3
15pegvisomant44 1110.0GH1, IGFBP3, IGF1, SST, GHR, GHRH
16androstenedione44 249.9IGFBP3, IGF1, PRL, GHR, GH1
17hydrocortisone44 2 61 1111.9SST, GHSR, IGF1, PRL, GH1
18cabergoline44 28 1110.9GH1, IGF1, PRL, GHR, SST, IGFBP3
19triiodothyronine448.8GH1, GHRH, PRL, IGF1, IGFBP3, GHR
20dhea448.7IGF1, IGFBP3, PRL, GH1, GAL
21c-peptide448.6GAL, GH1, SST, IGFBP3, IGF1, GHR
22thyroxine44 249.6IGF1, SST, GHRH, GHR, PRL, GH1
23levodopa44 119.5SST, IGF1, PRL, GAL, GHR, GH1
24tamoxifen44 50 28 1111.4IGFBP3, PRL, IGF1, GHR, GH1, SSTR2
25pyridostigmine44 119.3IGFBP3, IGF1, PRL, GAL, GH1, GHRH
26norepinephrine44 24 1110.2IGFBP3, PRL, SST, GHRH, GH1, GAL
27naloxone44 28 50 1111.2SST, GGH, GAL, GH1, GHRH, PRL
28forskolin44 50 1110.2GNAS, SSTR2, GHRH, GHRHR, GH1, GAL
29progesterone44 28 61 24 1112.2GHR, GHRH, IGF1, GNAS, PRL, IGFBP3
30steroid448.0GHSR, IGFBP3, PRL, GH1, GHRH, GNAS
31clonidine44 50 28 1111.0IGFBP3, IGF1, SST, GHRH, GHR, GH1
32bromocriptine44 28 1110.0GH1, GAL, GHR, GHRH, SST, PRL
33thymidine44 248.8GHR, IGF1, GGH, GH1, SSTR2, SSTR5
34cycloheximide447.8GAL, TRHR, GH1, GHR, IGFBP3, SST
35ghrp447.8GHSR, GH1, GHRHR, GHR, GHRH, SST
36estradiol44 24 119.7GHRH, IGFBP3, IGF1, GHSR, PRL, GHR
37adenylate447.5GNAS, GAL, IGFBP3, GHSR, SST, SSTR2
38lanreotide44 288.5GHR, GH1, SSTR2, GHSR, GHRH, SST
39testosterone44 61 24 1110.5GHRH, SST, GHR, GAL, GHSR, IGFBP3
40gnrh447.4GAL, IGFBP3, IGF1, GNAS, PRL, SST
41estrogen447.3GAL, GHRH, GHSR, GH1, GHR, PRL
42dopamine44 28 24 1110.2SST, SSTR2, GHR, GH1, GHSR, GAL
43glutamate447.2GHR, GGH, GAL, GHRHR, GHRH, SST
44ribonucleic acid447.2IGFBP3, IGF1, GNAS, PRL, SSTR5, SSTR2
45hexarelin44 288.1GHRH, SST, GHR, GHRHR, GH1, GHSR
46dexamethasone44 50 28 1110.1GAL, PRL, SST, GHSR, GH1, GHRHR
47arginine446.9IGFBP3, GNAS, GHRHR, PRL, GAL, SST
48acth446.7GAL, GHSR, GH1, IGFBP3, IGF1, GNAS
49octreotide44 61 28 118.8GHRH, GHR, GH1, GHSR, GAL, GGH
50glucose445.7GGH, GAL, GHSR, GH1, GHRHR, GHR

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:0169429.4IGF1, IGFBP3
2extracellular spaceGO:0056157.6IGFBP3, IGF1, SST, GHRH, GHR, GH1
3plasma membraneGO:0058867.5IGF1, GNAS, SSTR5, SSTR2, GHR, GHRHR
4extracellular regionGO:0055767.3GAL, IGFBP3, IGF1, GNAS, PRL, SST

Biological processes related to Acromegaly according to GeneCards/GeneDecks:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1water homeostasisGO:03010410.1GHRHR, IGF1
2growth hormone receptor signaling pathwayGO:06039610.1GHR, GH1
3insulin-like growth factor receptor signaling pathwayGO:04800910.0GHR, IGF1
4positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252310.0IGF1, GHR, GH1
5positive regulation of growth hormone secretionGO:06012410.0GHRH, GHRHR
6positive regulation of JAK-STAT cascadeGO:04642710.0GH1, PRL
7positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.9GH1, GHR, IGF1
8positive regulation of cAMP biosynthetic processGO:0308199.9GHRHR, GHRH, GNAS
9adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.9GHRHR, GHRH, GNAS
10activation of adenylate cyclase activityGO:0071909.9GHRHR, GNAS
11JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.8GH1, GHR, PRL
12JAK-STAT cascadeGO:0072599.8GH1, GHR
13regulation of multicellular organism growthGO:0400149.8GHR, PRL, IGF1
14cAMP-mediated signalingGO:0199339.8GHRH, GHRHR
15hormone-mediated signaling pathwayGO:0097559.8GHSR, GHR
16response to foodGO:0320949.7GHSR, GHR, GHRH
17growth hormone secretionGO:0302529.7GHSR, GHRHR, GHRH
18positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.6GH1, GHR
19cellular response to insulin stimulusGO:0328699.6GHR, GHRHR, GHSR
20G-protein coupled receptor signaling pathwayGO:0071869.2TRHR, GHSR, SST, SSTR5
21positive regulation of multicellular organism growthGO:0400189.1GHRH, GHR, GHRHR, GH1, GHSR
22negative regulation of cell proliferationGO:0082859.1IGFBP3, IGF1, SSTR5, SST, SSTR2
23response to insulinGO:0328689.0GHRHR, GAL, GGH
24response to drugGO:0424938.8GNAS, SST, GAL, GGH
25positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435688.7GHSR, GH1, GHRHR, GHRH, IGF1, IGFBP3

Molecular functions related to Acromegaly according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1prolactin receptor bindingGO:0051489.9GH1, PRL
2growth factor bindingGO:0198389.8GHRHR, GHR
3somatostatin receptor activityGO:0049949.7SSTR5, SSTR2
4growth hormone-releasing hormone receptor activityGO:0165209.6GHSR, GHRHR
5hormone activityGO:0051799.5GH1, SST, PRL, IGF1
6peptide hormone bindingGO:0170469.4GHR, GHRHR, GHSR
7protein bindingGO:0055156.6AIP, IGFBP3, IGF1, GNAS, PRL, SSTR2

Products for genes affiliated with Acromegaly

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  • Antibodies
  • Proteins
  • Lysates

Sources for Acromegaly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet