AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su FBXO22 susiję požymiai
F-box protein 22
Žmogaus fenotipo ontologija sieja 114 požymių su FBXO22, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal facial shape | Labai dažnai (80–99%) |
| Abnormally small head | Dažnai (30–79%) |
| Decreased facial muscle tone | Dažnai (30–79%) |
| Depressed nasal bridge | Dažnai (30–79%) |
| High forehead | Dažnai (30–79%) |
| Little lower jaw | Dažnai (30–79%) |
| Narrow palate | Dažnai (30–79%) |
| Short nose | Dažnai (30–79%) |
| Short opening between the eyelids | Dažnai (30–79%) |
| Small head present at birth | Dažnai (30–79%) |
| Triangular face | Dažnai (30–79%) |
| Bulbous nose | Kartais (5–29%) |
| Deformity of the skull | Kartais (5–29%) |
| Dental crowding | Kartais (5–29%) |
| Early eruption of teeth | Kartais (5–29%) |
| Fragile teeth | Kartais (5–29%) |
| Gum enlargement | Kartais (5–29%) |
| Nasal tip, upturned | Kartais (5–29%) |
| Webbed neck | Kartais (5–29%) |
Abnormality of the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Grand mal seizures | Visada |
| Neurodevelopmental delay | Labai dažnai (80–99%) |
| Epilepsy | Dažnai (30–79%) |
| Intellectual disability | Dažnai (30–79%) |
| Poor fine motor coordination | Dažnai (30–79%) |
| Abnormal periventricular white matter morphology | Kartais (5–29%) |
| Aplasia/Hypoplasia of the corpus callosum | Kartais (5–29%) |
| Ataxia | Kartais (5–29%) |
| Brain degeneration | Kartais (5–29%) |
| Increased reflexes | Kartais (5–29%) |
| Loss of developmental milestones | Kartais (5–29%) |
| Periventricular cysts | Kartais (5–29%) |
| Seizure affecting one half of brain | Kartais (5–29%) |
| Too much cerebrospinal fluid in the brain | Kartais (5–29%) |
| Ventriculomegaly | Kartais (5–29%) |
| Wide based walk | Kartais (5–29%) |
Abnormality of the genitourinary system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal kidney location | Dažnai (30–79%) |
| Absent kidney | Dažnai (30–79%) |
| Bilateral renal dysplasia | Dažnai (30–79%) |
| Cystic kidney disease | Dažnai (30–79%) |
| Hyperechogenic kidneys | Dažnai (30–79%) |
| Short penis | Dažnai (30–79%) |
| Small kidneys | Dažnai (30–79%) |
| Undescended testes | Dažnai (30–79%) |
| Abnormal external genitalia | Kartais (5–29%) |
| Increased urine output | Kartais (5–29%) |
| Renal failure | Kartais (5–29%) |
Abnormality of the cardiovascular system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Biventricular hypertrophy | Visada |
| Narrowing of aorta | Visada |
| An opening in the wall separating the top two chambers of the heart | Dažnai (30–79%) |
| Patent ductus arteriosus | Dažnai (30–79%) |
| Patent foramen ovale | Dažnai (30–79%) |
| Hole in heart wall separating two lower heart chambers | Kartais (5–29%) |
| Hypoplastic tricuspid valve | Kartais (5–29%) |
| Increased blood pressure in blood vessels of lungs | Kartais (5–29%) |
| Strawberry mark | Kartais (5–29%) |
| Underdeveloped right heart | Kartais (5–29%) |
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Poor suck | Labai dažnai (80–99%) |
| Absence or narrowing of first part of small bowel | Dažnai (30–79%) |
| Acid reflux | Dažnai (30–79%) |
| Annular pancreas | Kartais (5–29%) |
| Feeding difficulties | Kartais (5–29%) |
| Intestinal malrotation | Kartais (5–29%) |
| Stomach hernia | Kartais (5–29%) |
| Vomiting | Kartais (5–29%) |
Abnormality of the eye
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Wide-set eyes | Dažnai (30–79%) |
| Clouding of the lens of the eye | Kartais (5–29%) |
| Cross-eyed | Kartais (5–29%) |
| Farsightedness | Kartais (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Kartais (5–29%) |
| Retina issue | Kartais (5–29%) |
| Visual impairment | Kartais (5–29%) |
Abnormality of the musculoskeletal system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Generalized decreased muscle tone | Dažnai (30–79%) |
| Low muscle tone | Dažnai (30–79%) |
| Double-Jointed | Kartais (5–29%) |
| Harder, denser, fracture-prone bones | Kartais (5–29%) |
| Scoliosis | Kartais (5–29%) |
| Spasticity and rigidity of muscles | Kartais (5–29%) |
Laboratory abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Elevated blood creatine phosphokinase | Kartais (5–29%) |
| Food intolerance | Kartais (5–29%) |
| High blood phosphate levels | Kartais (5–29%) |
| Low blood calcium levels | Kartais (5–29%) |
| Low blood phosphate level | Kartais (5–29%) |
| Low blood sugar | Kartais (5–29%) |
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Coxa valga | Kartais (5–29%) |
| Dropped arches | Kartais (5–29%) |
| Hip dislocation | Kartais (5–29%) |
| Permanent flexion of the finger | Kartais (5–29%) |
| Tapered finger | Kartais (5–29%) |
Abnormality of the integument
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the nail | Kartais (5–29%) |
| Blue discoloration of the skin | Kartais (5–29%) |
| Dry skin | Kartais (5–29%) |
| Premature skin wrinkling | Kartais (5–29%) |
| Thickened skin | Kartais (5–29%) |
Abnormality of prenatal development or birth
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Premature birth | Dažnai (30–79%) |
| Fetal ascites | Kartais (5–29%) |
| Low levels of amniotic fluid | Kartais (5–29%) |
| Prenatal double bubble sign | Kartais (5–29%) |
Abnormality of the endocrine system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Adrenal insufficiency | Kartais (5–29%) |
| Early onset of puberty | Kartais (5–29%) |
| Overactive thyroid | Kartais (5–29%) |
| Underactive thyroid | Kartais (5–29%) |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Faltering weight | Visada |
| Small for gestational age | Labai dažnai (80–99%) |
| Prenatal growth deficiency | Dažnai (30–79%) |
| Short stature | Dažnai (30–79%) |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Low-set ears | Dažnai (30–79%) |
| Conductive deafness | Kartais (5–29%) |
| Small ears | Kartais (5–29%) |
Abnormality of the respiratory system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Apnea | Kartais (5–29%) |
| Central hypoventilation | Kartais (5–29%) |
| Poorly developed lungs | Kartais (5–29%) |
Abnormality of the immune system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Infection in blood stream | Kartais (5–29%) |
| Recurrent aspiration pneumonia | Kartais (5–29%) |
Abnormality of blood and blood-forming tissues
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Low number of red blood cells or hemoglobin | Kartais (5–29%) |
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 FBXO22 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
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