Proteus syndrome
ORPHA:744Malformation syndromeNot applicableInfancy
Ассоциированные гены1
Фенотипы (HPO)115
Очень частый (80–99%)27
HP:0005306Capillary hemangioma
HP:0007400Irregular hyperpigmentation
HP:0007552Abnormal subcutaneous fat tissue distribution
HP:0010816Epidermal nevus
HP:0011276Vascular skin abnormality
HP:0012032Lipoma
HP:0100026Arteriovenous malformation
HP:0100555Asymmetric growth
HP:0100559Lower limb asymmetry
HP:0100560Upper limb asymmetry
HP:0100764Lymphangioma
HP:0000995Melanocytic nevus
HP:0001000Abnormality of skin pigmentation
HP:0001072Thickened skin
HP:0001167Abnormality of finger
HP:0001482Subcutaneous nodule
HP:0001519Disproportionate tall stature
HP:0001548Overgrowth
HP:0001555Asymmetry of the thorax
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0002808Kyphosis
HP:0003199Decreased muscle mass
HP:0003312Abnormal form of the vertebral bodies
HP:0004099Macrodactyly
HP:0004326Cachexia
HP:0004437Cranial hyperostosis
Частый (30–79%)25
HP:0000268Dolichocephaly
HP:0000311Round face
HP:0000316Hypertelorism
HP:0000400Macrotia
HP:0000896Rib exostoses
HP:0001004Lymphedema
HP:0002101Abnormal lung lobation
HP:0002204Pulmonary embolism
HP:0004418Thrombophlebitis
HP:0004459Exostosis of the external auditory canal
HP:0004490Calvarial hyperostosis
HP:0005595Generalized hyperkeratosis
HP:0006101Finger syndactyly
HP:0007565Multiple cafe-au-lait spots
HP:0009125Lipodystrophy
HP:0010566Hamartoma
HP:0012721Venous malformation
HP:0025104Capillary malformation
HP:0032445Pulmonary cyst
HP:0032446Pulmonary bulla
HP:0034275Verrucous epidermal nevus
HP:0100730Bronchogenic cyst
HP:0100761Visceral angiomatosis
HP:0100774Hyperostosis
HP:6000009Cerebriform connective tissue nevus
Периодический (5–29%)63
HP:0000040Long penis
HP:0000053Macroorchidism
HP:0000105Enlarged kidney
HP:0000107Renal cyst
HP:0000194Open mouth
HP:0000256Macrocephaly
HP:0000276Long face
HP:0000324Facial asymmetry
HP:0000369Low-set ears
HP:0000463Anteverted nares
HP:0000464Abnormality of the neck
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000501Glaucoma
HP:0000508Ptosis
HP:0000518Cataract
HP:0000520Proptosis
HP:0000545Myopia
HP:0000557Buphthalmos
HP:0000567Chorioretinal coloboma
HP:0000670Carious teeth
HP:0000682Abnormality of dental enamel
HP:0000873Diabetes insipidus
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001363Craniosynostosis
HP:0001387Joint stiffness
HP:0001597Abnormality of the nail
HP:0001645Sudden cardiac death
HP:0001744Splenomegaly
HP:0001822Hallux valgus
HP:0002230Generalized hirsutism
HP:0002282Gray matter heterotopia
HP:0002664Neoplasm
HP:0002719Recurrent infections
HP:0002827Hip dislocation
HP:0002858Meningioma
HP:0003019Abnormality of the wrist
HP:0003715Myofibrillar myopathy
HP:0004209Clinodactyly of the 5th finger
HP:0004420Arterial thrombosis
HP:0005280Depressed nasal bridge
HP:0005916Abnormal metacarpal morphology
HP:0007440Generalized hyperpigmentation
HP:0007703Abnormality of retinal pigmentation
HP:0007818Central heterochromia
HP:0007899Retinal nonattachment
HP:0008675Enlarged polycystic ovaries
HP:0009594Retinal hamartoma
HP:0009804Tooth agenesis
HP:0009928Thick nasal alae
HP:0010497Sirenomelia
HP:0010508Metatarsus valgus
HP:0010516Thymus hyperplasia
HP:0010788Testicular neoplasm
HP:0011386Narrow internal auditory canal
HP:0030680Abnormal cardiovascular system morphology
HP:0100006Neoplasm of the central nervous system
HP:0100521Neoplasm of the thymus
HP:0100526Neoplasm of the lung
HP:0100615Ovarian neoplasm
HP:0100777Exostoses
HP:6000007Salivary basal cell adenoma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | <1 / 1 000 000 | — | Europe | Class only |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)