Požymiai

Su EBP susiję požymiai

EBP cholestenol delta-isomerase

Žmogaus fenotipo ontologija sieja 131 požymį su EBP: tai požymis, pastebimas žmonėms, sergantiems viena iš šio geno retųjų ligų.

EBP

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Bulbous nose	Visada
High palate	Visada
Little lower jaw	Visada
Long neck	Visada
Narrow eyelid opening	Visada
Prominent nasal bridge	Visada
Redundant neck skin	Visada
Small anterior fontanelle	Visada
Smooth philtrum	Visada
Upward slanting of the opening between the eyelids	Visada
Abnormality of the bridge of the nose	Dažnai (30–79%)
Abnormality of the skull	Dažnai (30–79%)
Asymmetry of the mouth	Dažnai (30–79%)
Corners of eye widely separated	Dažnai (30–79%)
Dandy-Walker malformation	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
Facial asymmetry	Dažnai (30–79%)
Frontal bossing	Dažnai (30–79%)
Midface retrusion	Dažnai (30–79%)
Thickened skin folds of neck	Dažnai (30–79%)
Wider-than-typical soft spot of skull	Dažnai (30–79%)
Cleft palate	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Hair loss on scalp from scarring condition	Kartais (5–29%)
Sparse eyebrow	Kartais (5–29%)
Sparse eyelashes	Kartais (5–29%)
Boxer's nasal deformity	Neužfiksuota
Flat face	Neužfiksuota
Short neck	Neužfiksuota
Small retruded chin	Neužfiksuota
Zygomatic flattening	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Visada
Low muscle tone in trunk	Visada
Speckled calcifications in end part of bone	Labai dažnai (80–99%)
Abnormal bone maturation of vertebra	Dažnai (30–79%)
Anterior rib punctate calcifications	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Hunched back	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Hypoplastic cervical vertebrae	Kartais (5–29%)
Kyphoscoliosis	Kartais (5–29%)
Missing part of vertebrae	Kartais (5–29%)
Neuropathic spinal arthropathy	Kartais (5–29%)
Speckled calcifications in bone end parts in neonates	Kartais (5–29%)
Abnormal shape of pelvic girdle bone	Neužfiksuota
Abnormality of the chest	Neužfiksuota
Calcific stippling	Neužfiksuota
Punctate vertebral calcifications	Neužfiksuota
Spasticity and rigidity of muscles	Neužfiksuota
Tracheal calcification	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Broad big toe	Visada
Long fingers	Visada
Overlapping fingers	Visada
Overlapping toe	Visada
Disproportionately short upper portion of limb	Dažnai (30–79%)
Extra finger	Dažnai (30–79%)
Increased muscle tone of arm or leg	Dažnai (30–79%)
Left and right leg differ in length or width	Dažnai (30–79%)
Unequal size of arms	Dažnai (30–79%)
Webbed 2nd and 3rd toes	Dažnai (30–79%)
Club feet	Kartais (5–29%)
Club foot on both sides	Kartais (5–29%)
Dislocated kneecap	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Postaxial polydactyly	Kartais (5–29%)
Asymmetric limb shortening	Neužfiksuota
More than five fingers or toes on hands or feet	Neužfiksuota
Stippled calcification in carpal bones	Neužfiksuota
Tarsal stippling	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Patchy hypopigmentation	Visada
Spinal dimple	Visada
Abnormality of the skin	Labai dažnai (80–99%)
Patchy baldness	Labai dažnai (80–99%)
Erythematous plaque	Dažnai (30–79%)
Ichthyosis	Dažnai (30–79%)
Scaling skin	Dažnai (30–79%)
Abnormal hair pattern	Kartais (5–29%)
Abnormality of the nail	Kartais (5–29%)
Coarse hair	Kartais (5–29%)
Congenital nonbullous ichthyosiform erythroderma	Kartais (5–29%)
Congenital ichthyosiform erythroderma	Neužfiksuota
Sparse hair	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Absent speech development	Visada
Epilepsy	Visada
Global developmental delay	Visada
Abnormal auditory evoked potentials	Dažnai (30–79%)
Abnormal social behavior	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Too much cerebrospinal fluid in the brain	Dažnai (30–79%)
Underdevelopment of part of brain called corpus callosum	Dažnai (30–79%)
Aggressive behavior	Kartais (5–29%)
More active than typical	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Retai (1–4 %)
IQ between 34 and 49	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Anterior polar cataract	Visada
Decreased clarity of vision	Visada
Inward turning cross eyed	Visada
Macular hypoplasia	Visada
Abnormally small eyeball	Dažnai (30–79%)
Clouding of the lens of the eye	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Cornea of eye less than 10mm in diameter	Kartais (5–29%)
Glaucoma	Neužfiksuota
Involuntary, rapid, rhythmic eye movements	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Visada
Low-set ears	Visada
Overfolded ears	Visada
Hearing impairment	Kartais (5–29%)
Abnormally shaped ears	Retai (1–4 %)
Sensorineural hearing impairment	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Visada
Short stature	Dažnai (30–79%)
Severe growth delay in children	Kartais (5–29%)
Growth delay as children	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated 8-dehydrocholesterol	Labai dažnai (80–99%)
Elevated 8(9)-cholestenol	Labai dažnai (80–99%)
Low blood sugar in newborn	Kartais (5–29%)
Fluid retention	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Crossed fused renal ectopia	Visada
Undescended testes	Dažnai (30–79%)
Hydronephrosis	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Anomalous tracheal cartilage	Dažnai (30–79%)
Abnormality of lung structure	Kartais (5–29%)
Narrowing of windpipe	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Abnormality of prenatal development or birth	Kartais (5–29%)
High levels of amniotic fluid	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Narrowing of aortic valve	Dažnai (30–79%)
Abnormality of the heart	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Red scaly skin caused by inflammatory skin disease	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su EBP susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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