Tunnused

Geeniga SIX3 seotud tunnused

SIX homeobox 3

Inimese fenotüübi ontoloogia seostab geeniga SIX3 137 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

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

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Blockage of the rear opening of the nasal cavity	Väga sageli (80–99%)
Midnasal stenosis	Väga sageli (80–99%)
Only one upper front tooth	Väga sageli (80–99%)
Abnormally small head	Sageli (30–79%)
Bifid uvula	Sageli (30–79%)
Both sided cleft lip	Sageli (30–79%)
Central cleft upper lip	Sageli (30–79%)
Cleft palate	Sageli (30–79%)
Flat nose	Sageli (30–79%)
High palate	Sageli (30–79%)
Narrow nasal bridge	Sageli (30–79%)
Right and left cleft palate	Sageli (30–79%)
Short philtrum	Sageli (30–79%)
Tented mouth	Sageli (30–79%)
Absence of the intermaxillary bone	Mõnikord (5–29%)
Absence of the nasal bone	Mõnikord (5–29%)
Big calvaria	Mõnikord (5–29%)
Cleft of the mouth	Mõnikord (5–29%)
Frontoethmoidal encephalocele	Mõnikord (5–29%)
Midface retrusion	Mõnikord (5–29%)
Mono nostril	Mõnikord (5–29%)
Nasal tip, upturned	Mõnikord (5–29%)
Proboscis	Mõnikord (5–29%)
Short nose	Mõnikord (5–29%)
Absent nasal septal cartilage	Pole registreeritud
Central cleft palate	Pole registreeritud
Submucous cleft hard palate	Pole registreeritud
Zygomatic flattening	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Abnormal hypothalamus physiology	Sageli (30–79%)
Abnormality of the endocrine system	Sageli (30–79%)
Anterior hypopituitarism	Sageli (30–79%)
Central diabetes insipidus	Sageli (30–79%)
Diabetes insipidus	Sageli (30–79%)
Early onset of puberty	Sageli (30–79%)
Central hypothyroidism	Mõnikord (5–29%)
Decreased response to growth hormone stimulation test	Mõnikord (5–29%)
Panhypopituitarism	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)
Absent pituitary gland	Pole registreeritud
Small adrenal glands	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormal vertebral morphology	Sageli (30–79%)
Abnormality of the ribs	Sageli (30–79%)
Decreased muscle tone in infant	Sageli (30–79%)
Generalized decreased muscle tone	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Abnormality of the skeletal system	Mõnikord (5–29%)
EMG: myopathic abnormalities	Mõnikord (5–29%)
Flexed joint that cannot be straightened	Mõnikord (5–29%)
Low muscle tone in trunk	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Low muscle tone	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Väga sageli (80–99%)
Poor suck	Väga sageli (80–99%)
Acid reflux	Sageli (30–79%)
Constipation	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Vomiting	Sageli (30–79%)
Abnormal shape of the digestive system	Mõnikord (5–29%)
Absence or narrowing of first part of small bowel	Mõnikord (5–29%)
Anteriorly placed anus	Mõnikord (5–29%)
Gastrostomy tube feeding in infancy	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormally close eyes	Alati
Abnormality of the eye	Väga sageli (80–99%)
Bulging eye	Sageli (30–79%)
Cerebral visual impairment	Sageli (30–79%)
Abnormally small eyeball	Mõnikord (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Mõnikord (5–29%)
Cat eye	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Cyclops eye	Mõnikord (5–29%)
Remnants of the hyaloid vascular system	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
Abnormal heart rate variability	Mõnikord (5–29%)
Abnormality of the heart	Mõnikord (5–29%)
Narrowing of aorta	Mõnikord (5–29%)
Strawberry mark	Mõnikord (5–29%)
Tetralogy of Fallot	Mõnikord (5–29%)
Single ventricle	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the genitourinary system	Mõnikord (5–29%)
Absent kidney	Mõnikord (5–29%)
Ambiguous external genitalia	Mõnikord (5–29%)
Underdeveloped penis	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Väga sageli (80–99%)
Growth delay	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Prenatal growth deficiency	Sageli (30–79%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormal pattern of respiration	Sageli (30–79%)
Central apnea	Sageli (30–79%)
Chronic lung disease	Sageli (30–79%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Abnormality of limbs	Mõnikord (5–29%)
Hip dislocation	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Aspiration pneumonia	Sageli (30–79%)
Asthma	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Premature birth	Sageli (30–79%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Sageli (30–79%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Temperature instability	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 SIX3 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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