Ichthyosis follicularis-alopecia-photophobia syndrome
ORPHA:2273DiseaseAutosomal dominant, Not applicable, X-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)78
Очень частый (80–99%)9
HP:0000613Photophobia
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001328Specific learning disability
HP:0001595Abnormality of the hair
HP:0001596Alopecia
HP:0008064Ichthyosis
HP:0008070Sparse hair
HP:0200034Papule
Частый (30–79%)25
HP:0000499Abnormal eyelash morphology
HP:0000614Abnormal nasolacrimal system morphology
HP:0000726Dementia
HP:0000962Hyperkeratosis
HP:0000964Eczematoid dermatitis
HP:0000966Hypohidrosis
HP:0001268Mental deterioration
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001597Abnormality of the nail
HP:0001804Hypoplastic fingernail
HP:0001812Hyperconvex fingernails
HP:0002046Heat intolerance
HP:0002205Recurrent respiratory infections
HP:0002223Absent eyebrow
HP:0002376Developmental regression
HP:0002718Recurrent bacterial infections
HP:0002719Recurrent infections
HP:0002721Immunodeficiency
HP:0004370Abnormality of temperature regulation
HP:0010783Erythema
HP:0011968Feeding difficulties
HP:0012742Thin fingernail
HP:0045074Thin eyebrow
HP:0200020Corneal erosion
Периодический (5–29%)44
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000072Hydroureter
HP:0000077Abnormality of the kidney
HP:0000126Hydronephrosis
HP:0000252Microcephaly
HP:0000400Macrotia
HP:0000453Choanal atresia
HP:0000483Astigmatism
HP:0000491Keratitis
HP:0000492Abnormal eyelid morphology
HP:0000498Blepharitis
HP:0000509Conjunctivitis
HP:0000545Myopia
HP:0000554Uveitis
HP:0000639Nystagmus
HP:0000682Abnormality of dental enamel
HP:0000925Abnormality of the vertebral column
HP:0000926Platyspondyly
HP:0001025Urticaria
HP:0001155Abnormality of the hand
HP:0001252Hypotonia
HP:0001274Agenesis of corpus callosum
HP:0001321Cerebellar hypoplasia
HP:0001331Absent septum pellucidum
HP:0001539Omphalocele
HP:0002007Frontal bossing
HP:0002120Cerebral cortical atrophy
HP:0002251Aganglionic megacolon
HP:0002750Delayed skeletal maturation
HP:0002808Kyphosis
HP:0003468Abnormal vertebral morphology
HP:0003510Severe short stature
HP:0007957Corneal opacity
HP:0010935Abnormality of the upper urinary tract
HP:0012157Subcortical cerebral atrophy
HP:0012165Oligodactyly
HP:0040163Abnormal pelvis bone morphology
HP:0100257Ectrodactyly
HP:0100308Cerebral cortical hemiatrophy
HP:0100490Camptodactyly of finger
HP:0100532Scleritis
HP:0100534Episcleritis
HP:0100825Cheilitis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)