Trăsături

Trăsături asociate cu IRF6

interferon regulatory factor 6

Human Phenotype Ontology asociază 96 trăsături cu IRF6, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Cleft palate	Întotdeauna
Failure of development of more than six teeth	Întotdeauna
Abnormality of tooth eruption	Foarte des (80–99%)
Chewing difficulties	Foarte des (80–99%)
Cleft upper lip	Foarte des (80–99%)
Lip pit	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Lower lip pit	Foarte des (80–99%)
Thin red part of the upper lip	Foarte des (80–99%)
Abnormal of nasal shape	Des (30–79%)
Abnormality of masticatory muscle	Des (30–79%)
Abnormality of the face	Des (30–79%)
Absence of premolar	Des (30–79%)
Absence of six year molar	Des (30–79%)
Absence of upper lateral incisor	Des (30–79%)
Absent central incisor	Des (30–79%)
Adhesion of eyelids	Des (30–79%)
Bad bite	Des (30–79%)
Bifid uvula	Des (30–79%)
Cleft of the mouth	Des (30–79%)
Decreased length of dental roots	Des (30–79%)
Decreased size of tooth	Des (30–79%)
Delayed eruption of permanent teeth	Des (30–79%)
Delayed eruption of teeth	Des (30–79%)
Disturbance of facial expression	Des (30–79%)
Fibrous syngnathia	Des (30–79%)
Non-midline cleft of the upper lip	Des (30–79%)
One sided cleft palate	Des (30–79%)
Velopharyngeal incompetence	Des (30–79%)
Widely spaced teeth	Des (30–79%)
Abnormal number of permanent teeth	Uneori (5–29%)
Abnormality of canine	Uneori (5–29%)
Abnormality of dental shape	Uneori (5–29%)
Abnormality of septum of nose	Uneori (5–29%)
Abnormality of shape of baby molar	Uneori (5–29%)
Abnormality of the salivary glands	Uneori (5–29%)
Absence of lower premolar	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Both sided cleft lip	Uneori (5–29%)
Decreased size of teeth	Uneori (5–29%)
Extra upper front tooth	Uneori (5–29%)
Failure of development of between one and six teeth	Uneori (5–29%)
Hole in roof of mouth	Uneori (5–29%)
Increased size of tooth	Uneori (5–29%)
Missing lateral incisor	Uneori (5–29%)
Outward turned lips	Uneori (5–29%)
Peg-shaped maxillary lateral incisors	Uneori (5–29%)
Right and left cleft palate	Uneori (5–29%)
Short face	Uneori (5–29%)
Taurodontia	Uneori (5–29%)
Thin dental enamel	Uneori (5–29%)
Tongue tied	Uneori (5–29%)
Decreased size of maxilla	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Cleft of scrotum	Des (30–79%)
Small labia majora	Des (30–79%)
Smaller than typical growth of scrotum	Des (30–79%)
Undescended testes	Des (30–79%)
Ambiguous external genitalia	Uneori (5–29%)
Small uterus	Neînregistrat
Underdeveloped vagina	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed speech and language development	Des (30–79%)
Speech articulation difficulties	Des (30–79%)
Behavioral abnormality	Uneori (5–29%)
Low self-esteem	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)
Dementia	Neînregistrat
Spina bifida occulta	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Des (30–79%)
Oral-pharyngeal dysphagia	Des (30–79%)
Poor suck	Des (30–79%)
Malnutrition	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)
Umbilical hernia	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Fused toes	Foarte des (80–99%)
Finger syndactyly	Des (30–79%)
Webbed fingers	Des (30–79%)
Split hand	Uneori (5–29%)
Club feet	Rar (1–4%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hairiness over body	Foarte des (80–99%)
Abnormality of the nail	Des (30–79%)
Popliteal pterygium	Des (30–79%)
Intercrural pterygium	Neînregistrat
Pyramidal skinfold extending from the base to the top of the nails	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Chronic infections of the middle ear	Des (30–79%)
Recurrent middle ear infection	Des (30–79%)
Abnormal Eustachian tube morphology	Uneori (5–29%)
Conductive deafness	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Joint stiffness	Foarte des (80–99%)
Abnormality of the ribs	Des (30–79%)
Scoliosis	Des (30–79%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
All organs on wrong side of body	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormal pattern of respiration	Des (30–79%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Nasal speech	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Small for gestational age	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Nonketotic hyperglycinemia	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 IRF6 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