Tunnused

Geeniga EBP seotud tunnused

EBP cholestenol delta-isomerase

Inimese fenotüübi ontoloogia seostab geeniga EBP 131 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

EBP

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Alati
Low muscle tone in trunk	Alati
Speckled calcifications in end part of bone	Väga sageli (80–99%)
Abnormal bone maturation of vertebra	Sageli (30–79%)
Anterior rib punctate calcifications	Sageli (30–79%)
Generalized decreased muscle tone	Sageli (30–79%)
Hunched back	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Flexed joint that cannot be straightened	Mõnikord (5–29%)
Hypoplastic cervical vertebrae	Mõnikord (5–29%)
Kyphoscoliosis	Mõnikord (5–29%)
Missing part of vertebrae	Mõnikord (5–29%)
Neuropathic spinal arthropathy	Mõnikord (5–29%)
Speckled calcifications in bone end parts in neonates	Mõnikord (5–29%)
Abnormal shape of pelvic girdle bone	Pole registreeritud
Abnormality of the chest	Pole registreeritud
Calcific stippling	Pole registreeritud
Punctate vertebral calcifications	Pole registreeritud
Spasticity and rigidity of muscles	Pole registreeritud
Tracheal calcification	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Broad big toe	Alati
Long fingers	Alati
Overlapping fingers	Alati
Overlapping toe	Alati
Disproportionately short upper portion of limb	Sageli (30–79%)
Extra finger	Sageli (30–79%)
Increased muscle tone of arm or leg	Sageli (30–79%)
Left and right leg differ in length or width	Sageli (30–79%)
Unequal size of arms	Sageli (30–79%)
Webbed 2nd and 3rd toes	Sageli (30–79%)
Club feet	Mõnikord (5–29%)
Club foot on both sides	Mõnikord (5–29%)
Dislocated kneecap	Mõnikord (5–29%)
Hip dislocation	Mõnikord (5–29%)
Postaxial polydactyly	Mõnikord (5–29%)
Asymmetric limb shortening	Pole registreeritud
More than five fingers or toes on hands or feet	Pole registreeritud
Stippled calcification in carpal bones	Pole registreeritud
Tarsal stippling	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Patchy hypopigmentation	Alati
Spinal dimple	Alati
Abnormality of the skin	Väga sageli (80–99%)
Patchy baldness	Väga sageli (80–99%)
Erythematous plaque	Sageli (30–79%)
Ichthyosis	Sageli (30–79%)
Scaling skin	Sageli (30–79%)
Abnormal hair pattern	Mõnikord (5–29%)
Abnormality of the nail	Mõnikord (5–29%)
Coarse hair	Mõnikord (5–29%)
Congenital nonbullous ichthyosiform erythroderma	Mõnikord (5–29%)
Congenital ichthyosiform erythroderma	Pole registreeritud
Sparse hair	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Absent speech development	Alati
Epilepsy	Alati
Global developmental delay	Alati
Abnormal auditory evoked potentials	Sageli (30–79%)
Abnormal social behavior	Sageli (30–79%)
Intellectual disability	Sageli (30–79%)
Too much cerebrospinal fluid in the brain	Sageli (30–79%)
Underdevelopment of part of brain called corpus callosum	Sageli (30–79%)
Aggressive behavior	Mõnikord (5–29%)
More active than typical	Mõnikord (5–29%)
Ventriculomegaly	Mõnikord (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Harva (1–4%)
IQ between 34 and 49	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Anterior polar cataract	Alati
Decreased clarity of vision	Alati
Inward turning cross eyed	Alati
Macular hypoplasia	Alati
Abnormally small eyeball	Sageli (30–79%)
Clouding of the lens of the eye	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)
Cornea of eye less than 10mm in diameter	Mõnikord (5–29%)
Glaucoma	Pole registreeritud
Involuntary, rapid, rhythmic eye movements	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Alati
Low-set ears	Alati
Overfolded ears	Alati
Hearing impairment	Mõnikord (5–29%)
Abnormally shaped ears	Harva (1–4%)
Sensorineural hearing impairment	Harva (1–4%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Alati
Short stature	Sageli (30–79%)
Severe growth delay in children	Mõnikord (5–29%)
Growth delay as children	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated 8-dehydrocholesterol	Väga sageli (80–99%)
Elevated 8(9)-cholestenol	Väga sageli (80–99%)
Low blood sugar in newborn	Mõnikord (5–29%)
Fluid retention	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Crossed fused renal ectopia	Alati
Undescended testes	Sageli (30–79%)
Hydronephrosis	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Anomalous tracheal cartilage	Sageli (30–79%)
Abnormality of lung structure	Mõnikord (5–29%)
Narrowing of windpipe	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Abnormality of prenatal development or birth	Mõnikord (5–29%)
High levels of amniotic fluid	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Narrowing of aortic valve	Sageli (30–79%)
Abnormality of the heart	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Red scaly skin caused by inflammatory skin disease	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga EBP seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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