Požymiai

Su TP63 susiję požymiai

tumor protein p63

Žmogaus fenotipo ontologija sieja 248 požymių su TP63, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

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

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Dry skin	Visada
Ectodermal dysplasia	Visada
Flattened and twisted hair	Visada
Lack of sweating	Visada
Poor nail formation	Visada
Slow-growing hair	Visada
Sparse body hair	Visada
Uncombable hair	Visada
Abnormal fingernail development	Labai dažnai (80–99%)
Abnormal toenail development	Labai dažnai (80–99%)
Abnormality of the nail	Labai dažnai (80–99%)
Beauty mark	Labai dažnai (80–99%)
Coarse hair	Labai dažnai (80–99%)
Fine hair	Labai dažnai (80–99%)
Freckling	Labai dažnai (80–99%)
Hyperkeratosis	Labai dažnai (80–99%)
Nail pits	Labai dažnai (80–99%)
Open skin sore	Labai dažnai (80–99%)
Thin skin	Labai dažnai (80–99%)
Absent/small skin	Dažnai (30–79%)
Excessive face hair	Dažnai (30–79%)
Fair skin	Dažnai (30–79%)
Hair loss	Dažnai (30–79%)
Atypical nail growth	Kartais (5–29%)
Decreased ability to sweat	Kartais (5–29%)
Mole	Kartais (5–29%)
Sparse hair	Kartais (5–29%)
Multiple birthmarks	Retai (1–4 %)
Absent nails	Neužfiksuota
Adermatoglyphia	Neužfiksuota
Decreased sweat glands	Neužfiksuota
Fair hair	Neužfiksuota
Increased nail curvature	Neužfiksuota
Limited armpit hair	Neužfiksuota
Patchy baldness	Neužfiksuota
Patchy darkened skin	Neužfiksuota
Photosensitive skin	Neužfiksuota
Pili canaliculi	Neužfiksuota
Progressive alopecia	Neužfiksuota
Skin degeneration	Neužfiksuota
Small nail	Neužfiksuota
Sparse pubic hair	Neužfiksuota
Thick nail	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the clit	Labai dažnai (80–99%)
Epispadias	Labai dažnai (80–99%)
Underdeveloped penis	Labai dažnai (80–99%)
Vesicoureteral reflux	Labai dažnai (80–99%)
Abnormality of the ureter	Dažnai (30–79%)
Absent/small kidney	Dažnai (30–79%)
Frequent urinary tract infections	Dažnai (30–79%)
Hydronephrosis	Dažnai (30–79%)
Hypospadias	Dažnai (30–79%)
Previous menstrual periods stop	Dažnai (30–79%)
Primary amenorrhea	Dažnai (30–79%)
Streak ovary	Dažnai (30–79%)
Urethral atresia	Dažnai (30–79%)
Absent ovary	Retai (1–4 %)
Absent uterus	Retai (1–4 %)
Absent kidney	Neužfiksuota
Bladder diverticulum	Neužfiksuota
Duplicated collecting system	Neužfiksuota
Hydroureter	Neužfiksuota
Megacystis	Neužfiksuota
Narrowing of the urethra	Neužfiksuota
Renal dysplasia	Neužfiksuota
Short penis	Neužfiksuota
Small labia majora	Neužfiksuota
Transverse vaginal septum	Neužfiksuota
Undescended testes	Neužfiksuota
Ureterocele	Neužfiksuota
Vaginal dryness	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Thickening of palms and soles	Visada
Webbed skin of 2nd-3rd toes	Visada
Cleft hand	Labai dažnai (80–99%)
Finger syndactyly	Labai dažnai (80–99%)
Fused toes	Labai dažnai (80–99%)
Oligodactyly	Labai dažnai (80–99%)
Split foot	Labai dažnai (80–99%)
Split hand	Labai dažnai (80–99%)
Duplication of hand bones	Dažnai (30–79%)
Hand monodactyly	Dažnai (30–79%)
3-4 finger cutaneous syndactyly	Kartais (5–29%)
Absent hand	Kartais (5–29%)
Absent/small thumb	Kartais (5–29%)
Attachment of thumb close to wrist	Kartais (5–29%)
Curvature of little finger	Kartais (5–29%)
Webbed fingers or toes	Kartais (5–29%)
Club feet	Retai (1–4 %)
Absent/small long bone of foot	Neužfiksuota
Absent/small long bones of hand	Neužfiksuota
Absent/small toe bones	Neužfiksuota
Aplasia/Hypoplasia of the phalanges of the hand	Neužfiksuota
Bunion	Neužfiksuota
Finger-like thumb	Neužfiksuota
Joint contracture of the hand	Neužfiksuota
Webbed 2nd and 3rd toes	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abnormality of the anus	Labai dažnai (80–99%)
Bladder exstrophy	Labai dažnai (80–99%)
Umbilical hernia	Labai dažnai (80–99%)
Anteriorly placed anus	Dažnai (30–79%)
Feeding difficulties in infancy	Dažnai (30–79%)
Inguinal hernia	Dažnai (30–79%)
Narrowing of anal opening	Dažnai (30–79%)
Nasogastric tube feeding in infancy	Dažnai (30–79%)
Oral-pharyngeal dysphagia	Dažnai (30–79%)
Poor suck	Dažnai (30–79%)
Intestinal malrotation	Kartais (5–29%)
Loss of bowel control	Kartais (5–29%)
Malnutrition	Kartais (5–29%)
Omphalocele	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Narrow ear canal	Visada
Chronic infections of the middle ear	Dažnai (30–79%)
Recurrent middle ear infection	Dažnai (30–79%)
Abnormal Eustachian tube morphology	Kartais (5–29%)
Abnormality of the inner ear	Kartais (5–29%)
Abnormality of the middle ear	Kartais (5–29%)
Abnormally shaped ears	Kartais (5–29%)
Conductive deafness	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)
Prominent ear	Retai (1–4 %)
Absent ear canal	Neužfiksuota
Hearing impairment	Neužfiksuota
Small ears	Neužfiksuota

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Accessory nipple	Visada
Small nipples	Visada
Absent breast	Dažnai (30–79%)
Absent nipple	Dažnai (30–79%)
Two underdeveloped breasts	Dažnai (30–79%)
Underdeveloped breasts	Dažnai (30–79%)
Absent/small breasts	Kartais (5–29%)
Absent/small nipples	Kartais (5–29%)
Wide-spaced nipples	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Absence of tears in the eyes	Visada
Abnormality of tear production	Labai dažnai (80–99%)
Corneal inflammation	Dažnai (30–79%)
Damage to outer layer of the cornea of the eye	Dažnai (30–79%)
Extreme sensitivity of the eyes to light	Dažnai (30–79%)
Inflammatory abnormality of the eye	Dažnai (30–79%)
Absent iris	Kartais (5–29%)
Blue eyes	Neužfiksuota
Drooping upper eyelid	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased serum estradiol	Visada
Elevated circulating follicle stimulating hormone level	Visada
Anterior hypopituitarism	Kartais (5–29%)
Decreased response to growth hormone stimulation test	Kartais (5–29%)
Precocious puberty in females	Kartais (5–29%)
Central diabetes insipidus	Neužfiksuota
Hypogonadotropic hypogonadism	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Delayed speech and language development	Dažnai (30–79%)
Speech articulation difficulties	Dažnai (30–79%)
Behavioral abnormality	Kartais (5–29%)
Intellectual disability	Kartais (5–29%)
Low self-esteem	Kartais (5–29%)
Specific learning disability	Retai (1–4 %)
Abnormality of the nervous system	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Small thymus	Kartais (5–29%)
All organs on wrong side of body	Retai (1–4 %)
Hole in heart wall separating two lower heart chambers	Neužfiksuota
Patent ductus arteriosus	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Amniotic constriction ring	Kartais (5–29%)
High levels of amniotic fluid	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Psoriasiform dermatitis	Retai (1–4 %)
Eczema	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Small sacrum	Dažnai (30–79%)
Permanent flexion of the finger or toe	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Kartais (5–29%)
Small for gestational age	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Cancer of lymphatic system	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormal pattern of respiration	Dažnai (30–79%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Nasal speech	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su TP63 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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