AGel amyloidosis
ORPHA:85448DiseaseAutosomal dominantAdult
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)6
HP:0000478Abnormality of the eye
HP:0000958Dry skin
HP:0001005Dermatological manifestations of systemic disorders
HP:0001097Keratoconjunctivitis sicca
HP:0001149Lattice corneal dystrophy
HP:0001488Bilateral ptosis
Частый (30–79%)19
HP:0000217Xerostomia
HP:0000365Hearing impairment
HP:0000505Visual impairment
HP:0000518Cataract
HP:0000707Abnormality of the nervous system
HP:0000969Edema
HP:0000973Cutis laxa
HP:0000978Bruising susceptibility
HP:0001251Ataxia
HP:0001271Polyneuropathy
HP:0002015Dysphagia
HP:0002411Myokymia
HP:0007067Distal peripheral sensory neuropathy
HP:0007663Reduced visual acuity
HP:0010628Facial palsy
HP:0011356Regional abnormality of skin
HP:0011675Arrhythmia
HP:0012185Constrictive median neuropathy
HP:0012804Corneal ulceration
Периодический (5–29%)14
HP:0000093Proteinuria
HP:0000501Glaucoma
HP:0000597Ophthalmoparesis
HP:0000763Sensory neuropathy
HP:0000989Pruritus
HP:0001260Dysarthria
HP:0001638Cardiomyopathy
HP:0004926Orthostatic hypotension due to autonomic dysfunction
HP:0007488Diffuse skin atrophy
HP:0008070Sparse hair
HP:0010535Sleep apnea
HP:0010749Blepharochalasis
HP:0012473Tongue atrophy
HP:0025408Abnormal spleen morphology
Очень редкий (1–4%)6
HP:0000716Depression
HP:0002483Bulbar signs
HP:0002549Deficit in phonologic short-term memory
HP:0003774Stage 5 chronic kidney disease
HP:0008404Nail dystrophy
HP:0011947Respiratory tract infection
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 475 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)