Trăsături

Trăsături asociate cu TP63

tumor protein p63

Human Phenotype Ontology asociază 248 trăsături cu TP63, 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
Absent lacrimal punctum	Întotdeauna
Bilateral blockage of the rear opening of the nasal cavity	Întotdeauna
Both sided cleft lip	Întotdeauna
Cleft palate	Întotdeauna
Cleft upper lip	Întotdeauna
Dental cavities	Întotdeauna
Failure of development of between one and six teeth	Întotdeauna
Narrow mouth	Întotdeauna
Narrowing of the tear duct	Întotdeauna
One sided cleft palate	Întotdeauna
One sided cleft upper lip	Întotdeauna
Sparse eyebrow	Întotdeauna
Sparse eyelashes	Întotdeauna
Taurodontia	Întotdeauna
Thin dental enamel	Întotdeauna
Abnormal dentition	Foarte des (80–99%)
Abnormal tooth enamel	Foarte des (80–99%)
Abnormality of tooth eruption	Foarte des (80–99%)
Adhesion of eyelids	Foarte des (80–99%)
Blocked tear duct	Foarte des (80–99%)
Decreased number of teeth	Foarte des (80–99%)
Decreased size of tooth	Foarte des (80–99%)
Lip pit	Foarte des (80–99%)
Thick eyebrow	Foarte des (80–99%)
Unopened tear duct	Foarte des (80–99%)
Abnormal of nasal shape	Des (30–79%)
Abnormality of dental shape	Des (30–79%)
Abnormality of masticatory muscle	Des (30–79%)
Abnormality of the face	Des (30–79%)
Chewing difficulties	Des (30–79%)
Cleft lip	Des (30–79%)
Cleft of the mouth	Des (30–79%)
Dacryocystitis	Des (30–79%)
Disturbance of facial expression	Des (30–79%)
Inflammation of eyelids	Des (30–79%)
Keratoconjunctivitis	Des (30–79%)
Non-midline cleft of the upper lip	Des (30–79%)
Sparse scalp hair	Des (30–79%)
Velopharyngeal incompetence	Des (30–79%)
Abnormal number of permanent teeth	Uneori (5–29%)
Abnormality of septum of nose	Uneori (5–29%)
Bad bite	Uneori (5–29%)
Bifid uvula	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Chronic irritative conjunctivitis	Uneori (5–29%)
Cleft hard palate	Uneori (5–29%)
Decreased salivary flow	Uneori (5–29%)
Extra upper front tooth	Uneori (5–29%)
Eyelid folded in	Uneori (5–29%)
Hole in roof of mouth	Uneori (5–29%)
Increased size of tooth	Uneori (5–29%)
Missing lateral incisor	Uneori (5–29%)
Peg-shaped maxillary lateral incisors	Uneori (5–29%)
Prominent nasal bridge	Uneori (5–29%)
Right and left cleft palate	Uneori (5–29%)
Submucous cleft soft palate	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)
Decreased size of maxilla	Rar (1–4%)
Zygomatic flattening	Rar (1–4%)
Abnormal nasopharynx morphology	Neînregistrat
Absence of a tooth	Neînregistrat
Absence of scalp hair	Neînregistrat
Absence of Stensen duct	Neînregistrat
Absent eyelashes	Neînregistrat
Cone shaped tooth	Neînregistrat
Depressed nasal bridge	Neînregistrat
Depressed nasal tip	Neînregistrat
Early loss of adult teeth	Neînregistrat
Failure of development of more than six teeth	Neînregistrat
High forehead	Neînregistrat
Narrow nose	Neînregistrat
Narrow opening between the eyelids	Neînregistrat
Oval face	Neînregistrat
Pink eye	Neînregistrat
Small, cone shaped teeth	Neînregistrat
Underdeveloped tissue around nostril	Neînregistrat
Widely spaced teeth	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Dry skin	Întotdeauna
Ectodermal dysplasia	Întotdeauna
Flattened and twisted hair	Întotdeauna
Lack of sweating	Întotdeauna
Poor nail formation	Întotdeauna
Slow-growing hair	Întotdeauna
Sparse body hair	Întotdeauna
Uncombable hair	Întotdeauna
Abnormal fingernail development	Foarte des (80–99%)
Abnormal toenail development	Foarte des (80–99%)
Abnormality of the nail	Foarte des (80–99%)
Beauty mark	Foarte des (80–99%)
Coarse hair	Foarte des (80–99%)
Fine hair	Foarte des (80–99%)
Freckling	Foarte des (80–99%)
Hyperkeratosis	Foarte des (80–99%)
Nail pits	Foarte des (80–99%)
Open skin sore	Foarte des (80–99%)
Thin skin	Foarte des (80–99%)
Absent/small skin	Des (30–79%)
Excessive face hair	Des (30–79%)
Fair skin	Des (30–79%)
Hair loss	Des (30–79%)
Atypical nail growth	Uneori (5–29%)
Decreased ability to sweat	Uneori (5–29%)
Mole	Uneori (5–29%)
Sparse hair	Uneori (5–29%)
Multiple birthmarks	Rar (1–4%)
Absent nails	Neînregistrat
Adermatoglyphia	Neînregistrat
Decreased sweat glands	Neînregistrat
Fair hair	Neînregistrat
Increased nail curvature	Neînregistrat
Limited armpit hair	Neînregistrat
Patchy baldness	Neînregistrat
Patchy darkened skin	Neînregistrat
Photosensitive skin	Neînregistrat
Pili canaliculi	Neînregistrat
Progressive alopecia	Neînregistrat
Skin degeneration	Neînregistrat
Small nail	Neînregistrat
Sparse pubic hair	Neînregistrat
Thick nail	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the clit	Foarte des (80–99%)
Epispadias	Foarte des (80–99%)
Underdeveloped penis	Foarte des (80–99%)
Vesicoureteral reflux	Foarte des (80–99%)
Abnormality of the ureter	Des (30–79%)
Absent/small kidney	Des (30–79%)
Frequent urinary tract infections	Des (30–79%)
Hydronephrosis	Des (30–79%)
Hypospadias	Des (30–79%)
Previous menstrual periods stop	Des (30–79%)
Primary amenorrhea	Des (30–79%)
Streak ovary	Des (30–79%)
Urethral atresia	Des (30–79%)
Absent ovary	Rar (1–4%)
Absent uterus	Rar (1–4%)
Absent kidney	Neînregistrat
Bladder diverticulum	Neînregistrat
Duplicated collecting system	Neînregistrat
Hydroureter	Neînregistrat
Megacystis	Neînregistrat
Narrowing of the urethra	Neînregistrat
Renal dysplasia	Neînregistrat
Short penis	Neînregistrat
Small labia majora	Neînregistrat
Transverse vaginal septum	Neînregistrat
Undescended testes	Neînregistrat
Ureterocele	Neînregistrat
Vaginal dryness	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Thickening of palms and soles	Întotdeauna
Webbed skin of 2nd-3rd toes	Întotdeauna
Cleft hand	Foarte des (80–99%)
Finger syndactyly	Foarte des (80–99%)
Fused toes	Foarte des (80–99%)
Oligodactyly	Foarte des (80–99%)
Split foot	Foarte des (80–99%)
Split hand	Foarte des (80–99%)
Duplication of hand bones	Des (30–79%)
Hand monodactyly	Des (30–79%)
3-4 finger cutaneous syndactyly	Uneori (5–29%)
Absent hand	Uneori (5–29%)
Absent/small thumb	Uneori (5–29%)
Attachment of thumb close to wrist	Uneori (5–29%)
Curvature of little finger	Uneori (5–29%)
Webbed fingers or toes	Uneori (5–29%)
Club feet	Rar (1–4%)
Absent/small long bone of foot	Neînregistrat
Absent/small long bones of hand	Neînregistrat
Absent/small toe bones	Neînregistrat
Aplasia/Hypoplasia of the phalanges of the hand	Neînregistrat
Bunion	Neînregistrat
Finger-like thumb	Neînregistrat
Joint contracture of the hand	Neînregistrat
Webbed 2nd and 3rd toes	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormality of the anus	Foarte des (80–99%)
Bladder exstrophy	Foarte des (80–99%)
Umbilical hernia	Foarte des (80–99%)
Anteriorly placed anus	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Inguinal hernia	Des (30–79%)
Narrowing of anal opening	Des (30–79%)
Nasogastric tube feeding in infancy	Des (30–79%)
Oral-pharyngeal dysphagia	Des (30–79%)
Poor suck	Des (30–79%)
Intestinal malrotation	Uneori (5–29%)
Loss of bowel control	Uneori (5–29%)
Malnutrition	Uneori (5–29%)
Omphalocele	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Narrow ear canal	Întotdeauna
Chronic infections of the middle ear	Des (30–79%)
Recurrent middle ear infection	Des (30–79%)
Abnormal Eustachian tube morphology	Uneori (5–29%)
Abnormality of the inner ear	Uneori (5–29%)
Abnormality of the middle ear	Uneori (5–29%)
Abnormally shaped ears	Uneori (5–29%)
Conductive deafness	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Prominent ear	Rar (1–4%)
Absent ear canal	Neînregistrat
Hearing impairment	Neînregistrat
Small ears	Neînregistrat

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Accessory nipple	Întotdeauna
Small nipples	Întotdeauna
Absent breast	Des (30–79%)
Absent nipple	Des (30–79%)
Two underdeveloped breasts	Des (30–79%)
Underdeveloped breasts	Des (30–79%)
Absent/small breasts	Uneori (5–29%)
Absent/small nipples	Uneori (5–29%)
Wide-spaced nipples	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Absence of tears in the eyes	Întotdeauna
Abnormality of tear production	Foarte des (80–99%)
Corneal inflammation	Des (30–79%)
Damage to outer layer of the cornea of the eye	Des (30–79%)
Extreme sensitivity of the eyes to light	Des (30–79%)
Inflammatory abnormality of the eye	Des (30–79%)
Absent iris	Uneori (5–29%)
Blue eyes	Neînregistrat
Drooping upper eyelid	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased serum estradiol	Întotdeauna
Elevated circulating follicle stimulating hormone level	Întotdeauna
Anterior hypopituitarism	Uneori (5–29%)
Decreased response to growth hormone stimulation test	Uneori (5–29%)
Precocious puberty in females	Uneori (5–29%)
Central diabetes insipidus	Neînregistrat
Hypogonadotropic hypogonadism	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%)
Intellectual disability	Uneori (5–29%)
Low self-esteem	Uneori (5–29%)
Specific learning disability	Rar (1–4%)
Abnormality of the nervous system	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Small thymus	Uneori (5–29%)
All organs on wrong side of body	Rar (1–4%)
Hole in heart wall separating two lower heart chambers	Neînregistrat
Patent ductus arteriosus	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Amniotic constriction ring	Uneori (5–29%)
High levels of amniotic fluid	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Psoriasiform dermatitis	Rar (1–4%)
Eczema	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Small sacrum	Des (30–79%)
Permanent flexion of the finger or toe	Neînregistrat

Growth abnormality

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

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Cancer of lymphatic system	Uneori (5–29%)

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%)

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 TP63 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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