AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga SEMA3E seotud tunnused
semaphorin 3E
Inimese fenotüübi ontoloogia seostab geeniga SEMA3E 99 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Lost smell | Väga sageli (80–99%) |
| Abnormal soft palate morphology | Sageli (30–79%) |
| Bell's palsy | Sageli (30–79%) |
| Blockage of the rear opening of the nasal cavity | Sageli (30–79%) |
| Delayed eruption of teeth | Sageli (30–79%) |
| Depressed nasal bridge | Sageli (30–79%) |
| Dimple chin | Sageli (30–79%) |
| Facial asymmetry | Sageli (30–79%) |
| Narrow face | Sageli (30–79%) |
| Narrow mouth | Sageli (30–79%) |
| Abnormally small head | Mõnikord (5–29%) |
| Cheekbone underdevelopment | Mõnikord (5–29%) |
| Cleft eyelid | Mõnikord (5–29%) |
| Cleft palate | Mõnikord (5–29%) |
| Cleft upper lip | Mõnikord (5–29%) |
| Dandy-Walker malformation | Mõnikord (5–29%) |
| Eye folds | Mõnikord (5–29%) |
| Highly arched eyebrow | Mõnikord (5–29%) |
| Skin tag in front of the ear | Mõnikord (5–29%) |
| Webbed neck | Harva (1–4%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Cat eye | Väga sageli (80–99%) |
| Notched pupil | Väga sageli (80–99%) |
| Abnormally small eyeball | Sageli (30–79%) |
| Absence of eyeballs | Sageli (30–79%) |
| Birth defect that causes a hole in the innermost layer at the back of the eye | Sageli (30–79%) |
| Cross-eyed | Sageli (30–79%) |
| Drooping upper eyelid | Sageli (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Sageli (30–79%) |
| Optic atrophy | Sageli (30–79%) |
| Abnormality of tear production | Mõnikord (5–29%) |
| Abnormality of the eye | Mõnikord (5–29%) |
| Abnormality of vision | Mõnikord (5–29%) |
| Wide-set eyes | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased testicular size | Alati |
| Primary amenorrhea | Alati |
| Short penis | Alati |
| Undescended testes | Väga sageli (80–99%) |
| Abnormal morphology of female internal genitalia | Sageli (30–79%) |
| Cleft of scrotum | Sageli (30–79%) |
| Underdeveloped labia | Sageli (30–79%) |
| Horseshoe kidney | Mõnikord (5–29%) |
| Hydronephrosis | Mõnikord (5–29%) |
| Infertility | Mõnikord (5–29%) |
| Vesicoureteral reflux | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal cranial nerve morphology | Väga sageli (80–99%) |
| Global developmental delay | Väga sageli (80–99%) |
| Attention deficit | Sageli (30–79%) |
| Autism | Sageli (30–79%) |
| Intellectual disability | Sageli (30–79%) |
| Obsessive compulsive behavior | Sageli (30–79%) |
| Absent/small cerebellum | Mõnikord (5–29%) |
| Aqueductal stenosis | Mõnikord (5–29%) |
| Cranial nerve paralysis | Mõnikord (5–29%) |
| Holoprosencephaly | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the inner ear | Väga sageli (80–99%) |
| Abnormally shaped ears | Väga sageli (80–99%) |
| Absent/small ear lobes | Väga sageli (80–99%) |
| Hearing impairment | Väga sageli (80–99%) |
| Hypoplasia of the semicircular canal | Väga sageli (80–99%) |
| Overfolded ears | Väga sageli (80–99%) |
| Ears rotated toward back of head | Sageli (30–79%) |
| Small ears | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal aortic valve morphology | Sageli (30–79%) |
| Abnormal cardiac septum morphology | Sageli (30–79%) |
| Abnormal cardiovascular system morphology | Sageli (30–79%) |
| Aortic arch aneurysm | Sageli (30–79%) |
| Interrupted aortic arch | Sageli (30–79%) |
| Patent ductus arteriosus | Sageli (30–79%) |
| Tetralogy of Fallot | Sageli (30–79%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the shankbone | Mõnikord (5–29%) |
| Curvature of little finger | Mõnikord (5–29%) |
| Notched thighbone | Mõnikord (5–29%) |
| Short fingers or toes | Mõnikord (5–29%) |
| Talipes | Mõnikord (5–29%) |
| More than five fingers or toes on hands or feet | Harva (1–4%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Feeding difficulties in infancy | Väga sageli (80–99%) |
| Acid reflux | Sageli (30–79%) |
| Poor swallowing | Sageli (30–79%) |
| Abnormal connection between trachea and esophagus | Mõnikord (5–29%) |
| Umbilical hernia | Mõnikord (5–29%) |
| Omphalocele | Harva (1–4%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low muscle tone | Sageli (30–79%) |
| Abnormality of bone mineral density | Mõnikord (5–29%) |
| Abnormality of the ribs | Mõnikord (5–29%) |
| Missing part of vertebrae | Mõnikord (5–29%) |
| Scoliosis | Mõnikord (5–29%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hypogonadotropic hypogonadism | Alati |
| Delayed puberty | Väga sageli (80–99%) |
| Anterior hypopituitarism | Sageli (30–79%) |
| Adrenal abnormalities | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Growth delay as children | Sageli (30–79%) |
| Short stature | Sageli (30–79%) |
| Prenatal growth deficiency | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Limited armpit hair | Alati |
| Sparse pubic hair | Alati |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Respiratory function loss | Mõnikord (5–29%) |
| Softening of voice box tissue | Mõnikord (5–29%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Sageli (30–79%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of immune system physiology | Mõnikord (5–29%) |
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 SEMA3E seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast