KID syndrome
ORPHA:477DiseaseAutosomal dominant, Autosomal recessive, Not applicableNeonatal
Ассоциированные гены2
Фенотипы (HPO)60
Очень частый (80–99%)1
HP:0011496Corneal neovascularization
Частый (30–79%)24
HP:0000164Abnormality of the dentition
HP:0000399Prelingual sensorineural hearing impairment
HP:0000491Keratitis
HP:0000509Conjunctivitis
HP:0000572Visual loss
HP:0000613Photophobia
HP:0000653Sparse eyelashes
HP:0000982Palmoplantar keratoderma
HP:0001097Keratoconjunctivitis sicca
HP:0001581Recurrent skin infections
HP:0004552Scarring alopecia of scalp
HP:0005328Progeroid facial appearance
HP:0007431Congenital ichthyosiform erythroderma
HP:0007502Follicular hyperkeratosis
HP:0008070Sparse hair
HP:0008404Nail dystrophy
HP:0008625Severe sensorineural hearing impairment
HP:0011859Punctate keratitis
HP:0025092Epidermal acanthosis
HP:0032107Limbal stem cell deficiency
HP:0040189Scaling skin
HP:0045075Sparse eyebrow
HP:0200020Corneal erosion
HP:0200035Skin plaque
Периодический (5–29%)14
HP:0000966Hypohidrosis
HP:0001369Arthritis
HP:0001508Failure to thrive
HP:0001805Onychogryposis
HP:0003765Psoriasiform dermatitis
HP:0005401Recurrent candida infections
HP:0005406Recurrent bacterial skin infections
HP:0008038Aplastic/hypoplastic lacrimal glands
HP:0008897Postnatal growth retardation
HP:0011370Recurrent cutaneous fungal infections
HP:0012758Neurodevelopmental delay
HP:0025084Folliculitis
HP:0025610Posterior blepharitis
HP:0030318Angular cheilitis
Очень редкий (1–4%)21
HP:0000230Gingivitis
HP:0001305Dandy-Walker malformation
HP:0001320Cerebellar vermis hypoplasia
HP:0001999Abnormal facial shape
HP:0002673Coxa valga
HP:0002860Squamous cell carcinoma
HP:0003065Patellar hypoplasia
HP:0006380Knee flexion contracture
HP:0008069Neoplasm of the skin
HP:0008138Equinus calcaneus
HP:0008788Delayed pubic bone ossification
HP:0009830Peripheral neuropathy
HP:0011220Prominent forehead
HP:0012844Trichilemmoma
HP:0030839Knee pain
HP:0031250Lip fissure
HP:0040154Acne inversa
HP:0100648Neoplasm of the tongue
HP:0100806Sepsis
HP:0100838Recurrent cutaneous abscess formation
HP:0200036Skin nodule
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)