Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
ORPHA:95699DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)108
Очень частый (80–99%)2
HP:0031074Abnormal response to ACTH stimulation test
HP:0000924Abnormality of the skeletal system
Частый (30–79%)21
HP:0000811Abnormal external genitalia
HP:0000055Abnormality of female external genitalia
HP:0000032Abnormality of male external genitalia
HP:0003154Increased circulating ACTH level
HP:0008163Decreased circulating cortisol level
HP:0031213Elevated circulating 17-hydroxyprogesterone
HP:0031216Increased circulating progesterone
HP:0031187Abnormality of circulating pregnenolone level
HP:0031215Decreased circulating dehydroepiandrosterone-sulfate level
HP:0031083Abnormal response to human chorionic gonadotrophin stimulation test
HP:0000798Oligozoospermia
HP:0000144Decreased fertility
HP:0001007Hirsutism
HP:0003070Elbow ankylosis
HP:0001377Limited elbow extension
HP:0002987Elbow flexion contracture
HP:0000927Abnormality of skeletal maturation
HP:0008214Decreased serum estradiol
HP:0008221Adrenal hyperplasia
HP:0031065Abnormal ovarian morphology
HP:0000147Polycystic ovaries
Периодический (5–29%)73
HP:0001999Abnormal facial shape
HP:0011911Abnormality of metacarpophalangeal joint
HP:0011800Midface retrusion
HP:0001363Craniosynostosis
HP:0000248Brachycephaly
HP:0000262Turricephaly
HP:0001760Abnormal foot morphology
HP:0001155Abnormality of the hand
HP:0001166Arachnodactyly
HP:0030084Clinodactyly
HP:0012385Camptodactyly
HP:0001440Metatarsal synostosis
HP:0009701Metacarpal synostosis
HP:0003019Abnormality of the wrist
HP:0001838Rocker bottom foot
HP:0001883Talipes
HP:0002974Radioulnar synostosis
HP:0003041Humeroradial synostosis
HP:0000062Ambiguous genitalia
HP:0040253Increased size of the clitoris
HP:0025486Fused labia majora
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0030349Decreased circulating androgen level
HP:0000822Hypertension
HP:0000028Cryptorchidism
HP:0000786Primary amenorrhea
HP:0008675Enlarged polycystic ovaries
HP:0000823Delayed puberty
HP:0008072Maternal virilization in pregnancy
HP:0006487Bowing of the long bones
HP:0002980Femoral bowing
HP:0011302Long palm
HP:0001371Flexion contracture
HP:0001762Talipes equinovarus
HP:0000772Abnormal rib morphology
HP:0003468Abnormal vertebral morphology
HP:0000882Hypoplastic scapulae
HP:0002650Scoliosis
HP:0000774Narrow chest
HP:0003275Narrow pelvis bone
HP:0006439Radioulnar dislocation
HP:0003049Ulnar deviation of the wrist
HP:0001519Disproportionate tall stature
HP:0005913Abnormality of metacarpal epiphyses
HP:0002967Cubitus valgus
HP:0010049Short metacarpal
HP:0006118Shortening of all distal phalanges of the fingers
HP:0002007Frontal bossing
HP:0000260Wide anterior fontanel
HP:0000452Choanal stenosis
HP:0000453Choanal atresia
HP:0000414Bulbous nose
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0000160Narrow mouth
HP:0002705High, narrow palate
HP:0000377Abnormal pinna morphology
HP:0000369Low-set ears
HP:0000402Stenosis of the external auditory canal
HP:0000405Conductive hearing impairment
HP:0000238Hydrocephalus
HP:0000750Delayed speech and language development
HP:0010862Delayed fine motor development
HP:0003826Stillbirth
HP:0009738Abnormality of the antihelix
HP:0000363Abnormality of earlobe
HP:0001376Limitation of joint mobility
HP:0001156Brachydactyly
HP:0032362Increased circulating corticosterone level
HP:0011969Elevated circulating luteinizing hormone level
HP:0008232Elevated circulating follicle stimulating hormone level
HP:0031100Decreased inhibin B level
Очень редкий (1–4%)12
HP:0005892Proximal tibial and fibular fusion
HP:0008368Tarsal synostosis
HP:0000079Abnormality of the urinary system
HP:0010946Dilatation of the renal pelvis
HP:0000076Vesicoureteral reflux
HP:0000122Unilateral renal agenesis
HP:0002020Gastroesophageal reflux
HP:0002019Constipation
HP:0001545Anteriorly placed anus
HP:0011403Abnormal umbilical cord blood vessels
HP:0002308Chiari malformation
HP:0007466Midfrontal capillary hemangioma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)