Tunnused

Geeniga IRF6 seotud tunnused

interferon regulatory factor 6

Inimese fenotüübi ontoloogia seostab geeniga IRF6 96 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

IRF6

Abnormality of head or neck

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

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Cleft of scrotum	Sageli (30–79%)
Small labia majora	Sageli (30–79%)
Smaller than typical growth of scrotum	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Ambiguous external genitalia	Mõnikord (5–29%)
Small uterus	Pole registreeritud
Underdeveloped vagina	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Delayed speech and language development	Sageli (30–79%)
Speech articulation difficulties	Sageli (30–79%)
Behavioral abnormality	Mõnikord (5–29%)
Low self-esteem	Mõnikord (5–29%)
Specific learning disability	Mõnikord (5–29%)
Dementia	Pole registreeritud
Spina bifida occulta	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Sageli (30–79%)
Oral-pharyngeal dysphagia	Sageli (30–79%)
Poor suck	Sageli (30–79%)
Malnutrition	Mõnikord (5–29%)
Poor swallowing	Mõnikord (5–29%)
Umbilical hernia	Harva (1–4%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Fused toes	Väga sageli (80–99%)
Finger syndactyly	Sageli (30–79%)
Webbed fingers	Sageli (30–79%)
Split hand	Mõnikord (5–29%)
Club feet	Harva (1–4%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Excessive hairiness over body	Väga sageli (80–99%)
Abnormality of the nail	Sageli (30–79%)
Popliteal pterygium	Sageli (30–79%)
Intercrural pterygium	Pole registreeritud
Pyramidal skinfold extending from the base to the top of the nails	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Chronic infections of the middle ear	Sageli (30–79%)
Recurrent middle ear infection	Sageli (30–79%)
Abnormal Eustachian tube morphology	Mõnikord (5–29%)
Conductive deafness	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Joint stiffness	Väga sageli (80–99%)
Abnormality of the ribs	Sageli (30–79%)
Scoliosis	Sageli (30–79%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
High levels of amniotic fluid	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
All organs on wrong side of body	Harva (1–4%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormal pattern of respiration	Sageli (30–79%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Nasal speech	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Small for gestational age	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Nonketotic hyperglycinemia	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 IRF6 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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