Tunnused

Geeniga TP63 seotud tunnused

tumor protein p63

Inimese fenotüübi ontoloogia seostab geeniga TP63 248 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Absent lacrimal punctum	Alati
Bilateral blockage of the rear opening of the nasal cavity	Alati
Both sided cleft lip	Alati
Cleft palate	Alati
Cleft upper lip	Alati
Dental cavities	Alati
Failure of development of between one and six teeth	Alati
Narrow mouth	Alati
Narrowing of the tear duct	Alati
One sided cleft palate	Alati
One sided cleft upper lip	Alati
Sparse eyebrow	Alati
Sparse eyelashes	Alati
Taurodontia	Alati
Thin dental enamel	Alati
Abnormal dentition	Väga sageli (80–99%)
Abnormal tooth enamel	Väga sageli (80–99%)
Abnormality of tooth eruption	Väga sageli (80–99%)
Adhesion of eyelids	Väga sageli (80–99%)
Blocked tear duct	Väga sageli (80–99%)
Decreased number of teeth	Väga sageli (80–99%)
Decreased size of tooth	Väga sageli (80–99%)
Lip pit	Väga sageli (80–99%)
Thick eyebrow	Väga sageli (80–99%)
Unopened tear duct	Väga sageli (80–99%)
Abnormal of nasal shape	Sageli (30–79%)
Abnormality of dental shape	Sageli (30–79%)
Abnormality of masticatory muscle	Sageli (30–79%)
Abnormality of the face	Sageli (30–79%)
Chewing difficulties	Sageli (30–79%)
Cleft lip	Sageli (30–79%)
Cleft of the mouth	Sageli (30–79%)
Dacryocystitis	Sageli (30–79%)
Disturbance of facial expression	Sageli (30–79%)
Inflammation of eyelids	Sageli (30–79%)
Keratoconjunctivitis	Sageli (30–79%)
Non-midline cleft of the upper lip	Sageli (30–79%)
Sparse scalp hair	Sageli (30–79%)
Velopharyngeal incompetence	Sageli (30–79%)
Abnormal number of permanent teeth	Mõnikord (5–29%)
Abnormality of septum of nose	Mõnikord (5–29%)
Bad bite	Mõnikord (5–29%)
Bifid uvula	Mõnikord (5–29%)
Blockage of the rear opening of the nasal cavity	Mõnikord (5–29%)
Chronic irritative conjunctivitis	Mõnikord (5–29%)
Cleft hard palate	Mõnikord (5–29%)
Decreased salivary flow	Mõnikord (5–29%)
Extra upper front tooth	Mõnikord (5–29%)
Eyelid folded in	Mõnikord (5–29%)
Hole in roof of mouth	Mõnikord (5–29%)
Increased size of tooth	Mõnikord (5–29%)
Missing lateral incisor	Mõnikord (5–29%)
Peg-shaped maxillary lateral incisors	Mõnikord (5–29%)
Prominent nasal bridge	Mõnikord (5–29%)
Right and left cleft palate	Mõnikord (5–29%)
Submucous cleft soft palate	Mõnikord (5–29%)
Wide nasal bridge	Mõnikord (5–29%)
Decreased size of maxilla	Harva (1–4%)
Zygomatic flattening	Harva (1–4%)
Abnormal nasopharynx morphology	Pole registreeritud
Absence of a tooth	Pole registreeritud
Absence of scalp hair	Pole registreeritud
Absence of Stensen duct	Pole registreeritud
Absent eyelashes	Pole registreeritud
Cone shaped tooth	Pole registreeritud
Depressed nasal bridge	Pole registreeritud
Depressed nasal tip	Pole registreeritud
Early loss of adult teeth	Pole registreeritud
Failure of development of more than six teeth	Pole registreeritud
High forehead	Pole registreeritud
Narrow nose	Pole registreeritud
Narrow opening between the eyelids	Pole registreeritud
Oval face	Pole registreeritud
Pink eye	Pole registreeritud
Small, cone shaped teeth	Pole registreeritud
Underdeveloped tissue around nostril	Pole registreeritud
Widely spaced teeth	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Dry skin	Alati
Ectodermal dysplasia	Alati
Flattened and twisted hair	Alati
Lack of sweating	Alati
Poor nail formation	Alati
Slow-growing hair	Alati
Sparse body hair	Alati
Uncombable hair	Alati
Abnormal fingernail development	Väga sageli (80–99%)
Abnormal toenail development	Väga sageli (80–99%)
Abnormality of the nail	Väga sageli (80–99%)
Beauty mark	Väga sageli (80–99%)
Coarse hair	Väga sageli (80–99%)
Fine hair	Väga sageli (80–99%)
Freckling	Väga sageli (80–99%)
Hyperkeratosis	Väga sageli (80–99%)
Nail pits	Väga sageli (80–99%)
Open skin sore	Väga sageli (80–99%)
Thin skin	Väga sageli (80–99%)
Absent/small skin	Sageli (30–79%)
Excessive face hair	Sageli (30–79%)
Fair skin	Sageli (30–79%)
Hair loss	Sageli (30–79%)
Atypical nail growth	Mõnikord (5–29%)
Decreased ability to sweat	Mõnikord (5–29%)
Mole	Mõnikord (5–29%)
Sparse hair	Mõnikord (5–29%)
Multiple birthmarks	Harva (1–4%)
Absent nails	Pole registreeritud
Adermatoglyphia	Pole registreeritud
Decreased sweat glands	Pole registreeritud
Fair hair	Pole registreeritud
Increased nail curvature	Pole registreeritud
Limited armpit hair	Pole registreeritud
Patchy baldness	Pole registreeritud
Patchy darkened skin	Pole registreeritud
Photosensitive skin	Pole registreeritud
Pili canaliculi	Pole registreeritud
Progressive alopecia	Pole registreeritud
Skin degeneration	Pole registreeritud
Small nail	Pole registreeritud
Sparse pubic hair	Pole registreeritud
Thick nail	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the clit	Väga sageli (80–99%)
Epispadias	Väga sageli (80–99%)
Underdeveloped penis	Väga sageli (80–99%)
Vesicoureteral reflux	Väga sageli (80–99%)
Abnormality of the ureter	Sageli (30–79%)
Absent/small kidney	Sageli (30–79%)
Frequent urinary tract infections	Sageli (30–79%)
Hydronephrosis	Sageli (30–79%)
Hypospadias	Sageli (30–79%)
Previous menstrual periods stop	Sageli (30–79%)
Primary amenorrhea	Sageli (30–79%)
Streak ovary	Sageli (30–79%)
Urethral atresia	Sageli (30–79%)
Absent ovary	Harva (1–4%)
Absent uterus	Harva (1–4%)
Absent kidney	Pole registreeritud
Bladder diverticulum	Pole registreeritud
Duplicated collecting system	Pole registreeritud
Hydroureter	Pole registreeritud
Megacystis	Pole registreeritud
Narrowing of the urethra	Pole registreeritud
Renal dysplasia	Pole registreeritud
Short penis	Pole registreeritud
Small labia majora	Pole registreeritud
Transverse vaginal septum	Pole registreeritud
Undescended testes	Pole registreeritud
Ureterocele	Pole registreeritud
Vaginal dryness	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Thickening of palms and soles	Alati
Webbed skin of 2nd-3rd toes	Alati
Cleft hand	Väga sageli (80–99%)
Finger syndactyly	Väga sageli (80–99%)
Fused toes	Väga sageli (80–99%)
Oligodactyly	Väga sageli (80–99%)
Split foot	Väga sageli (80–99%)
Split hand	Väga sageli (80–99%)
Duplication of hand bones	Sageli (30–79%)
Hand monodactyly	Sageli (30–79%)
3-4 finger cutaneous syndactyly	Mõnikord (5–29%)
Absent hand	Mõnikord (5–29%)
Absent/small thumb	Mõnikord (5–29%)
Attachment of thumb close to wrist	Mõnikord (5–29%)
Curvature of little finger	Mõnikord (5–29%)
Webbed fingers or toes	Mõnikord (5–29%)
Club feet	Harva (1–4%)
Absent/small long bone of foot	Pole registreeritud
Absent/small long bones of hand	Pole registreeritud
Absent/small toe bones	Pole registreeritud
Aplasia/Hypoplasia of the phalanges of the hand	Pole registreeritud
Bunion	Pole registreeritud
Finger-like thumb	Pole registreeritud
Joint contracture of the hand	Pole registreeritud
Webbed 2nd and 3rd toes	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the anus	Väga sageli (80–99%)
Bladder exstrophy	Väga sageli (80–99%)
Umbilical hernia	Väga sageli (80–99%)
Anteriorly placed anus	Sageli (30–79%)
Feeding difficulties in infancy	Sageli (30–79%)
Inguinal hernia	Sageli (30–79%)
Narrowing of anal opening	Sageli (30–79%)
Nasogastric tube feeding in infancy	Sageli (30–79%)
Oral-pharyngeal dysphagia	Sageli (30–79%)
Poor suck	Sageli (30–79%)
Intestinal malrotation	Mõnikord (5–29%)
Loss of bowel control	Mõnikord (5–29%)
Malnutrition	Mõnikord (5–29%)
Omphalocele	Mõnikord (5–29%)
Poor swallowing	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Narrow ear canal	Alati
Chronic infections of the middle ear	Sageli (30–79%)
Recurrent middle ear infection	Sageli (30–79%)
Abnormal Eustachian tube morphology	Mõnikord (5–29%)
Abnormality of the inner ear	Mõnikord (5–29%)
Abnormality of the middle ear	Mõnikord (5–29%)
Abnormally shaped ears	Mõnikord (5–29%)
Conductive deafness	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)
Prominent ear	Harva (1–4%)
Absent ear canal	Pole registreeritud
Hearing impairment	Pole registreeritud
Small ears	Pole registreeritud

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Accessory nipple	Alati
Small nipples	Alati
Absent breast	Sageli (30–79%)
Absent nipple	Sageli (30–79%)
Two underdeveloped breasts	Sageli (30–79%)
Underdeveloped breasts	Sageli (30–79%)
Absent/small breasts	Mõnikord (5–29%)
Absent/small nipples	Mõnikord (5–29%)
Wide-spaced nipples	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Absence of tears in the eyes	Alati
Abnormality of tear production	Väga sageli (80–99%)
Corneal inflammation	Sageli (30–79%)
Damage to outer layer of the cornea of the eye	Sageli (30–79%)
Extreme sensitivity of the eyes to light	Sageli (30–79%)
Inflammatory abnormality of the eye	Sageli (30–79%)
Absent iris	Mõnikord (5–29%)
Blue eyes	Pole registreeritud
Drooping upper eyelid	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased serum estradiol	Alati
Elevated circulating follicle stimulating hormone level	Alati
Anterior hypopituitarism	Mõnikord (5–29%)
Decreased response to growth hormone stimulation test	Mõnikord (5–29%)
Precocious puberty in females	Mõnikord (5–29%)
Central diabetes insipidus	Pole registreeritud
Hypogonadotropic hypogonadism	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%)
Intellectual disability	Mõnikord (5–29%)
Low self-esteem	Mõnikord (5–29%)
Specific learning disability	Harva (1–4%)
Abnormality of the nervous system	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Small thymus	Mõnikord (5–29%)
All organs on wrong side of body	Harva (1–4%)
Hole in heart wall separating two lower heart chambers	Pole registreeritud
Patent ductus arteriosus	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Amniotic constriction ring	Mõnikord (5–29%)
High levels of amniotic fluid	Harva (1–4%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Psoriasiform dermatitis	Harva (1–4%)
Eczema	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Small sacrum	Sageli (30–79%)
Permanent flexion of the finger or toe	Pole registreeritud

Growth abnormality

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

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Cancer of lymphatic system	Mõnikord (5–29%)

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%)

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 TP63 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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