Požymiai

Su SIX3 susiję požymiai

SIX homeobox 3

Žmogaus fenotipo ontologija sieja 137 požymių su SIX3, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Abnormal central motor function	Dažnai (30–79%)
Abnormal corpus callosum morphology	Dažnai (30–79%)
Abnormal morphology of the olfactory bulb	Dažnai (30–79%)
Abnormal shape of brainstem	Dažnai (30–79%)
Abnormal shape of midbrain	Dažnai (30–79%)
Abnormality of the autonomic nervous system	Dažnai (30–79%)
Absent speech development	Dažnai (30–79%)
Alobar holoprosencephaly	Dažnai (30–79%)
Anxiety	Dažnai (30–79%)
Aplasia of the falx cerebri	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Communication delay	Dažnai (30–79%)
Depression	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Impulsivity	Dažnai (30–79%)
Inability to walk	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Irritability	Dažnai (30–79%)
Lack of feeling, emotion, interest	Dažnai (30–79%)
Lethargy	Dažnai (30–79%)
Limb dystonia	Dažnai (30–79%)
Neural tube defect	Dažnai (30–79%)
Oromotor apraxia	Dažnai (30–79%)
Poor speech	Dažnai (30–79%)
Short attention span	Dažnai (30–79%)
Sleep-wake cycle disturbance	Dažnai (30–79%)
Specific learning disability	Dažnai (30–79%)
Abnormal septum pellucidum morphology	Kartais (5–29%)
Agenesis of corpus callosum	Kartais (5–29%)
Enlarged brain	Kartais (5–29%)
Holoprosencephaly	Kartais (5–29%)
Hypoplasia of the pons	Kartais (5–29%)
Perisylvian polymicrogyria	Kartais (5–29%)
Rhombencephalosynapsis	Kartais (5–29%)
Semilobar holoprosencephaly	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Neužfiksuota
Schizencephaly	Neužfiksuota
Small cerebellum	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Blockage of the rear opening of the nasal cavity	Labai dažnai (80–99%)
Midnasal stenosis	Labai dažnai (80–99%)
Only one upper front tooth	Labai dažnai (80–99%)
Abnormally small head	Dažnai (30–79%)
Bifid uvula	Dažnai (30–79%)
Both sided cleft lip	Dažnai (30–79%)
Central cleft upper lip	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Flat nose	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Narrow nasal bridge	Dažnai (30–79%)
Right and left cleft palate	Dažnai (30–79%)
Short philtrum	Dažnai (30–79%)
Tented mouth	Dažnai (30–79%)
Absence of the intermaxillary bone	Kartais (5–29%)
Absence of the nasal bone	Kartais (5–29%)
Big calvaria	Kartais (5–29%)
Cleft of the mouth	Kartais (5–29%)
Frontoethmoidal encephalocele	Kartais (5–29%)
Midface retrusion	Kartais (5–29%)
Mono nostril	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Proboscis	Kartais (5–29%)
Short nose	Kartais (5–29%)
Absent nasal septal cartilage	Neužfiksuota
Central cleft palate	Neužfiksuota
Submucous cleft hard palate	Neužfiksuota
Zygomatic flattening	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Abnormal hypothalamus physiology	Dažnai (30–79%)
Abnormality of the endocrine system	Dažnai (30–79%)
Anterior hypopituitarism	Dažnai (30–79%)
Central diabetes insipidus	Dažnai (30–79%)
Diabetes insipidus	Dažnai (30–79%)
Early onset of puberty	Dažnai (30–79%)
Central hypothyroidism	Kartais (5–29%)
Decreased response to growth hormone stimulation test	Kartais (5–29%)
Panhypopituitarism	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)
Absent pituitary gland	Neužfiksuota
Small adrenal glands	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormal vertebral morphology	Dažnai (30–79%)
Abnormality of the ribs	Dažnai (30–79%)
Decreased muscle tone in infant	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Abnormality of the skeletal system	Kartais (5–29%)
EMG: myopathic abnormalities	Kartais (5–29%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Low muscle tone in trunk	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Low muscle tone	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Labai dažnai (80–99%)
Poor suck	Labai dažnai (80–99%)
Acid reflux	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Vomiting	Dažnai (30–79%)
Abnormal shape of the digestive system	Kartais (5–29%)
Absence or narrowing of first part of small bowel	Kartais (5–29%)
Anteriorly placed anus	Kartais (5–29%)
Gastrostomy tube feeding in infancy	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormally close eyes	Visada
Abnormality of the eye	Labai dažnai (80–99%)
Bulging eye	Dažnai (30–79%)
Cerebral visual impairment	Dažnai (30–79%)
Abnormally small eyeball	Kartais (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Kartais (5–29%)
Cat eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Cyclops eye	Kartais (5–29%)
Remnants of the hyaloid vascular system	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Kartais (5–29%)
Abnormal heart rate variability	Kartais (5–29%)
Abnormality of the heart	Kartais (5–29%)
Narrowing of aorta	Kartais (5–29%)
Strawberry mark	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)
Single ventricle	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the genitourinary system	Kartais (5–29%)
Absent kidney	Kartais (5–29%)
Ambiguous external genitalia	Kartais (5–29%)
Underdeveloped penis	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)
Growth delay	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Prenatal growth deficiency	Dažnai (30–79%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormal pattern of respiration	Dažnai (30–79%)
Central apnea	Dažnai (30–79%)
Chronic lung disease	Dažnai (30–79%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Abnormality of limbs	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Aspiration pneumonia	Dažnai (30–79%)
Asthma	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Premature birth	Dažnai (30–79%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Sensorineural hearing impairment	Dažnai (30–79%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Temperature instability	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 SIX3 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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