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Acromegaly

ORPHA:963DiseaseNot applicableAdolescent, Adult, Childhood, Elderly, Infancy

Ассоциированные гены (2)

AIP
AHR interacting HSP90 co-chaperone
Major susceptibility factor in
OMIM: 605555
GPR101
G protein-coupled receptor 101
Major susceptibility factor in
OMIM: 300393

Фенотипы (92)

Очень частый (80–99%)27
HP:0001869Deep plantar creases
HP:0002758Osteoarthritis
HP:0002829Arthralgia
HP:0003859Cortical diaphyseal thickening of the upper limbs
HP:0004099Macrodactyly
HP:0006191Deep palmar crease
HP:0000158Macroglossia
HP:0000276Long face
HP:0000280Coarse facial features
HP:0000293Full cheeks
HP:0000303Mandibular prognathia
HP:0000337Broad forehead
HP:0000400Macrotia
HP:0000445Wide nose
HP:0000818Abnormality of the endocrine system
HP:0000830Anterior hypopituitarism
HP:0000845Elevated circulating growth hormone concentration
HP:0000975Hyperhidrosis
HP:0001051Seborrheic dermatitis
HP:0001072Thickened skin
HP:0001176Large hands
HP:0001182Tapered finger
HP:0001386Joint swelling
HP:0001769Broad foot
HP:0011760Pituitary growth hormone cell adenoma
HP:0012378Fatigue
HP:0033794Acral overgrowth
Частый (30–79%)31
HP:0011334Facial shape deformation
HP:0012185Constrictive median neuropathy
HP:0012471Thick vermilion border
HP:0012802Broad jaw
HP:0025406Asthenia
HP:0025693Pituitary macroadenoma
HP:0030269Increased circulating insulin-like growth factor 1 concentration
HP:0100540Palpebral edema
HP:0100607Dysmenorrhea
HP:0000044Hypogonadotropic hypogonadism
HP:0000164Abnormality of the dentition
HP:0000336Prominent supraorbital ridges
HP:0000664Synophrys
HP:0000687Widely spaced teeth
HP:0000716Depression
HP:0000739Anxiety
HP:0000819Diabetes mellitus
HP:0000822Hypertension
HP:0000855Insulin resistance
HP:0000870Increased circulating prolactin concentration
HP:0001609Hoarse voice
HP:0002007Frontal bossing
HP:0002076Migraine
HP:0002230Generalized hirsutism
HP:0002808Kyphosis
HP:0003401Paresthesia
HP:0003416Spinal canal stenosis
HP:0005978Type II diabetes mellitus
HP:0005987Multinodular goiter
HP:0010535Sleep apnea
HP:0010609Skin tags
Периодический (5–29%)34
HP:0000238Hydrocephalus
HP:0000602Ophthalmoplegia
HP:0000689Dental malocclusion
HP:0000789Infertility
HP:0000802Impotence
HP:0000846Adrenal insufficiency
HP:0000869Secondary amenorrhea
HP:0000876Oligomenorrhea
HP:0000956Acanthosis nigricans
HP:0000998Hypertrichosis
HP:0001061Acne
HP:0001081Cholelithiasis
HP:0001123Visual field defect
HP:0001639Hypertrophic cardiomyopathy
HP:0001653Mitral regurgitation
HP:0002155Hypertriglyceridemia
HP:0002315Headache
HP:0002953Vertebral compression fracture
HP:0003233Decreased HDL cholesterol concentration
HP:0003326Myalgia
HP:0005266Intestinal polyp
HP:0006767Pituitary prolactin cell adenoma
HP:0006824Cranial nerve paralysis
HP:0007440Generalized hyperpigmentation
HP:0008245Pituitary hypothyroidism
HP:0010541Cutis gyrata of scalp
HP:0011675Arrhythmia
HP:0012452Restless legs
HP:0030166Night sweats
HP:0031653Abnormal heart valve physiology
HP:0046504Decreased libido
HP:0100518Dysuria
HP:0100786Hypersomnia
HP:0100829Galactorrhea

Эпидемиология (21)

Annual incidence
1-9 / 1 000 000
Worldwide
Point prevalence
1-9 / 100 000
Spain
Point prevalence
1-9 / 100 000
Italy
Point prevalence
1-9 / 100 000
United Kingdom
Annual incidence
1-9 / 1 000 000
Belgium
Point prevalence
1-5 / 10 000
Belgium
Annual incidence
1-9 / 1 000 000
Ireland
Point prevalence
1-9 / 100 000
Ireland
Annual incidence
1-9 / 1 000 000
Finland
Annual incidence
1-9 / 1 000 000
Korea, Republic of
Point prevalence
1-9 / 100 000
Korea, Republic of
Annual incidence
1-9 / 1 000 000
Iceland
Point prevalence
1-5 / 10 000
Iceland
Point prevalence
1-9 / 100 000
United States
Annual incidence
1-9 / 100 000
United States
Point prevalence
1-9 / 100 000
Denmark
Annual incidence
1-9 / 1 000 000
Malta
Point prevalence
1-5 / 10 000
Malta
Annual incidence
1-9 / 1 000 000
Sweden
Annual incidence
1-9 / 1 000 000
Denmark
Point prevalence
1-9 / 100 000
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы