raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:963

Acromegaly

Type
Disease
Group
Disorder
Inheritance
Not applicable
Age of onset
Adolescent, Adult, Childhood, Elderly, Infancy
Status
active

A rare acquired endocrine disease related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAcromegaly
frAcromégalie
deAkromegalie
esAcromegalia
itAcromegalia
nlAcromegalie
ptAcromegalia
plAkromegalia
csAkromegalie
ukАкромегалія
zh肢端肥大症
trAkromegali

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM102200NTBTvalidated
OMIM300943BTNTvalidated
ICD-10E22.0NTBTspecificvalidated
ICD-115A60.0NTBTspecificvalidated
MONDO0019933Evalidated
MeSHD000172Evalidated
UMLSC0001206Evalidated
GARD5725Evalidated
MedDRA10000599Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (3):

No children.

4

Genes

2 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
AIPMajor susceptibility factor inAssessedHGNC:358ENSG0000011071160555511q13.2AHR interacting HSP90 co-chaperone20530095[PMID]_23038625[PMID]_23300914[PMID]_20616502[PMID]
GPR101Major susceptibility factor inAssessedHGNC:14963ENSG00000165370300393Xq26.3G protein-coupled receptor 10125470569[PMID]
5

Prevalence and incidence

21 records
TypeClassValueAreaQualificationValidationSource
Annual incidence1-9 / 1 000 0000.47 / 100 000WorldwideValue and classValidated17893253[PMID]_26792654[PMID]_ORPHANET_[EXPERT]
Point prevalence1-9 / 100 0003.6 / 100 000SpainValue and classValidated15476442[PMID]
Point prevalence1-9 / 100 0009.7 / 100 000ItalyValue and classValidated20621957[PMID]
Point prevalence1-9 / 100 0008.6 / 100 000United KingdomValue and classValidated19650784[PMID]
Annual incidence1-9 / 1 000 0000.19 / 100 000BelgiumValue and classValidated17893253[PMID]
Point prevalence1-5 / 10 00012 / 100 000BelgiumValue and classValidated[EXPERT]_17893253[PMID]
Annual incidence1-9 / 1 000 0000.4 / 100 000IrelandValue and classValidated2349750[PMID]
Point prevalence1-9 / 100 0006.3 / 100 000IrelandValue and classValidated2349750[PMID]
Annual incidence1-9 / 1 000 0000.34 / 100 000FinlandValue and classValidated20534753[PMID]
Annual incidence1-9 / 1 000 0000.39 / 100 000Korea, Republic ofValue and classValidated22909047[PMID]
Point prevalence1-9 / 100 0002.79 / 100 000Korea, Republic ofValue and classValidated22909047[PMID]
Annual incidence1-9 / 1 000 0000.77 / 100 000IcelandValue and classValidated25893613[PMID]
Point prevalence1-5 / 10 00013.4 / 100 000IcelandValue and classValidated25893613[PMID]
Point prevalence1-9 / 100 0007.8 / 100 000United StatesValue and classValidated26792654[PMID]
Annual incidence1-9 / 100 0001.1 / 100 000United StatesValue and classValidated26792654[PMID]
Point prevalence1-9 / 100 0008.5 / 100 000DenmarkValue and classValidated27280374[PMID]
Annual incidence1-9 / 1 000 0000.31 / 100 000MaltaValue and classValidated23239049[PMID]
Point prevalence1-5 / 10 00012.5 / 100 000MaltaValue and classValidated23239049[PMID]
Annual incidence1-9 / 1 000 0000.35 / 100 000SwedenValue and classValidated25084775[PMID]
Annual incidence1-9 / 1 000 0000.38 / 100 000DenmarkValue and classValidated27280374[PMID]
Point prevalence1-9 / 100 000—WorldwideClass onlyValidatedORPHANET_[EXPERT]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

93 annotations · validated 2024-04-25
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0000818Abnormality of the endocrine system
HP:0033794Acral overgrowth
HP:0000830Anterior hypopituitarism
HP:0002829Arthralgia
HP:0001769Broad foot
HP:0000337Broad forehead
HP:0000280Coarse facial features
HP:0003859Cortical diaphyseal thickening of the upper limbs
HP:0006191Deep palmar crease
HP:0001869Deep plantar creases
HP:0000845Elevated circulating growth hormone concentration
HP:0012378Fatigue
HP:0000293Full cheeks
HP:0000975Hyperhidrosis
HP:0001386Joint swelling
HP:0001176Large hands
HP:0000276Long face
HP:0004099Macrodactyly
HP:0000158Macroglossia
HP:0000400Macrotia
HP:0000303Mandibular prognathia
HP:0002758Osteoarthritis
HP:0011760Pituitary growth hormone cell adenoma
HP:0001051Seborrheic dermatitis
HP:0001182Tapered finger
HP:0001072Thickened skin
HP:0000445Wide nose
Frequent (79-30%)
HP:0000164Abnormality of the dentition
HP:0000140Abnormality of the menstrual cycle
HP:0000739Anxiety
HP:0025406Asthenia
HP:0012802Broad jaw
HP:0012185Constrictive median neuropathy
HP:0000716Depression
HP:0000819Diabetes mellitus
HP:0100607Dysmenorrhea
HP:0011334Facial shape deformation
HP:0002007Frontal bossing
HP:0002230Generalized hirsutism
HP:0001609Hoarse voice
HP:0000822Hypertension
HP:0000044Hypogonadotropic hypogonadism
HP:0030269Increased circulating insulin-like growth factor 1 concentration
HP:0000870Increased circulating prolactin concentration
HP:0000855Insulin resistance
HP:0002808Kyphosis
HP:0002076Migraine
HP:0005987Multinodular goiter
HP:0100540Palpebral edema
HP:0003401Paresthesia
HP:0025693Pituitary macroadenoma
HP:0000336Prominent supraorbital ridges
HP:0010609Skin tags
HP:0010535Sleep apnea
HP:0003416Spinal canal stenosis
HP:0000664Synophrys
HP:0012471Thick vermilion border
HP:0005978Type II diabetes mellitus
HP:0000687Widely spaced teeth
Occasional (29-5%)
HP:0031653Abnormal heart valve physiology
HP:0000956Acanthosis nigricans
HP:0001061Acne
HP:0000846Adrenal insufficiency
HP:0011675Arrhythmia
HP:0001081Cholelithiasis
HP:0006824Cranial nerve paralysis
HP:0010541Cutis gyrata of scalp
HP:0003233Decreased HDL cholesterol concentration
HP:0046504Decreased libido
HP:0000689Dental malocclusion
HP:0100518Dysuria
HP:0100829Galactorrhea
HP:0007440Generalized hyperpigmentation
HP:0002315Headache
HP:0000238Hydrocephalus
HP:0100786Hypersomnia
HP:0000998Hypertrichosis
HP:0002155Hypertriglyceridemia
HP:0001639Hypertrophic cardiomyopathy
HP:0000802Impotence
HP:0000789Infertility
HP:0005266Intestinal polyp
HP:0001653Mitral regurgitation
HP:0003326Myalgia
HP:0030166Night sweats
HP:0000876Oligomenorrhea
HP:0000602Ophthalmoplegia
HP:0008245Pituitary hypothyroidism
HP:0006767Pituitary prolactin cell adenoma
HP:0012452Restless legs
HP:0000869Secondary amenorrhea
HP:0002953Vertebral compression fracture
HP:0001123Visual field defect

Run the differential on the 12 obligate / very frequent terms

Annotation source: 18578866[PMID]_25905322[PMID]_25356808[PMID]

7

Sources for this card