Trăsături

Trăsături asociate cu TGIF1

TGFB induced factor homeobox 1

Human Phenotype Ontology asociază 124 trăsături cu TGIF1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

TGIF1

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Aplasia of the olfactory tract	Întotdeauna
Dystonia	Întotdeauna
Epilepsy	Întotdeauna
Abnormal central motor function	Des (30–79%)
Abnormal corpus callosum morphology	Des (30–79%)
Abnormal morphology of the olfactory bulb	Des (30–79%)
Abnormal shape of brainstem	Des (30–79%)
Abnormal shape of midbrain	Des (30–79%)
Abnormality of the autonomic nervous system	Des (30–79%)
Absent speech development	Des (30–79%)
Anxiety	Des (30–79%)
Aplasia of the falx cerebri	Des (30–79%)
Attention deficit	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Communication delay	Des (30–79%)
Depression	Des (30–79%)
Impulsivity	Des (30–79%)
Inability to walk	Des (30–79%)
Intellectual disability	Des (30–79%)
Irritability	Des (30–79%)
Lack of feeling, emotion, interest	Des (30–79%)
Lethargy	Des (30–79%)
Limb dystonia	Des (30–79%)
Lobar holoprosencephaly	Des (30–79%)
Neural tube defect	Des (30–79%)
Oromotor apraxia	Des (30–79%)
Poor speech	Des (30–79%)
Semilobar holoprosencephaly	Des (30–79%)
Short attention span	Des (30–79%)
Sleep-wake cycle disturbance	Des (30–79%)
Specific learning disability	Des (30–79%)
Abnormal septum pellucidum morphology	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Enlarged brain	Uneori (5–29%)
Holoprosencephaly	Uneori (5–29%)
Hypoplasia of the pons	Uneori (5–29%)
Perisylvian polymicrogyria	Uneori (5–29%)
Rhombencephalosynapsis	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Întotdeauna
Absence of the intermaxillary bone	Întotdeauna
Absent nasal septal cartilage	Întotdeauna
Central cleft palate	Întotdeauna
Central cleft upper lip	Întotdeauna
Depressed nasal bridge	Întotdeauna
Depressed nasal tip	Întotdeauna
Blockage of the rear opening of the nasal cavity	Foarte des (80–99%)
Midnasal stenosis	Foarte des (80–99%)
Only one upper front tooth	Foarte des (80–99%)
Bifid uvula	Des (30–79%)
Cleft palate	Des (30–79%)
Flat nose	Des (30–79%)
High palate	Des (30–79%)
Narrow nasal bridge	Des (30–79%)
Short philtrum	Des (30–79%)
Tented mouth	Des (30–79%)
Big calvaria	Uneori (5–29%)
Cleft of the mouth	Uneori (5–29%)
Frontoethmoidal encephalocele	Uneori (5–29%)
Mono nostril	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Proboscis	Uneori (5–29%)
Short nose	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Foarte des (80–99%)
Poor suck	Foarte des (80–99%)
Acid reflux	Des (30–79%)
Constipation	Des (30–79%)
Poor swallowing	Des (30–79%)
Vomiting	Des (30–79%)
Abnormal shape of the digestive system	Uneori (5–29%)
Absence or narrowing of first part of small bowel	Uneori (5–29%)
Anteriorly placed anus	Uneori (5–29%)
Gastrostomy tube feeding in infancy	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Diabetes insipidus	Întotdeauna
Abnormal hypothalamus physiology	Des (30–79%)
Abnormality of the endocrine system	Des (30–79%)
Anterior hypopituitarism	Des (30–79%)
Central diabetes insipidus	Des (30–79%)
Early onset of puberty	Des (30–79%)
Central hypothyroidism	Uneori (5–29%)
Decreased response to growth hormone stimulation test	Uneori (5–29%)
Panhypopituitarism	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal vertebral morphology	Des (30–79%)
Abnormality of the ribs	Des (30–79%)
Decreased muscle tone in infant	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Abnormality of the skeletal system	Uneori (5–29%)
EMG: myopathic abnormalities	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Low muscle tone in trunk	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of the eye	Foarte des (80–99%)
Abnormally close eyes	Foarte des (80–99%)
Cerebral visual impairment	Des (30–79%)
Cat eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Cyclops eye	Uneori (5–29%)
Drooping upper eyelid	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Uneori (5–29%)
Abnormal heart rate variability	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Strawberry mark	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the genitourinary system	Uneori (5–29%)
Absent kidney	Uneori (5–29%)
Ambiguous external genitalia	Uneori (5–29%)
Underdeveloped penis	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Growth delay	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Prenatal growth deficiency	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormal pattern of respiration	Des (30–79%)
Central apnea	Des (30–79%)
Chronic lung disease	Des (30–79%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of limbs	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Aspiration pneumonia	Des (30–79%)
Asthma	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Premature birth	Des (30–79%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Sensorineural hearing impairment	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Temperature instability	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu TGIF1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu