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Traits
Traits linked to TP63
tumor protein p63
The Human Phenotype Ontology links 248 traits to TP63, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
Abnormality of the integument
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormality of the clit | Very often (80–99%) |
| Epispadias | Very often (80–99%) |
| Underdeveloped penis | Very often (80–99%) |
| Vesicoureteral reflux | Very often (80–99%) |
| Abnormality of the ureter | Often (30–79%) |
| Absent/small kidney | Often (30–79%) |
| Frequent urinary tract infections | Often (30–79%) |
| Hydronephrosis | Often (30–79%) |
| Hypospadias | Often (30–79%) |
| Previous menstrual periods stop | Often (30–79%) |
| Primary amenorrhea | Often (30–79%) |
| Streak ovary | Often (30–79%) |
| Urethral atresia | Often (30–79%) |
| Absent ovary | Rarely (1–4%) |
| Absent uterus | Rarely (1–4%) |
| Absent kidney | Not recorded |
| Bladder diverticulum | Not recorded |
| Duplicated collecting system | Not recorded |
| Hydroureter | Not recorded |
| Megacystis | Not recorded |
| Narrowing of the urethra | Not recorded |
| Renal dysplasia | Not recorded |
| Short penis | Not recorded |
| Small labia majora | Not recorded |
| Transverse vaginal septum | Not recorded |
| Undescended testes | Not recorded |
| Ureterocele | Not recorded |
| Vaginal dryness | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Thickening of palms and soles | Always |
| Webbed skin of 2nd-3rd toes | Always |
| Cleft hand | Very often (80–99%) |
| Finger syndactyly | Very often (80–99%) |
| Fused toes | Very often (80–99%) |
| Oligodactyly | Very often (80–99%) |
| Split foot | Very often (80–99%) |
| Split hand | Very often (80–99%) |
| Duplication of hand bones | Often (30–79%) |
| Hand monodactyly | Often (30–79%) |
| 3-4 finger cutaneous syndactyly | Sometimes (5–29%) |
| Absent hand | Sometimes (5–29%) |
| Absent/small thumb | Sometimes (5–29%) |
| Attachment of thumb close to wrist | Sometimes (5–29%) |
| Curvature of little finger | Sometimes (5–29%) |
| Webbed fingers or toes | Sometimes (5–29%) |
| Club feet | Rarely (1–4%) |
| Absent/small long bone of foot | Not recorded |
| Absent/small long bones of hand | Not recorded |
| Absent/small toe bones | Not recorded |
| Aplasia/Hypoplasia of the phalanges of the hand | Not recorded |
| Bunion | Not recorded |
| Finger-like thumb | Not recorded |
| Joint contracture of the hand | Not recorded |
| Webbed 2nd and 3rd toes | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Abnormality of the anus | Very often (80–99%) |
| Bladder exstrophy | Very often (80–99%) |
| Umbilical hernia | Very often (80–99%) |
| Anteriorly placed anus | Often (30–79%) |
| Feeding difficulties in infancy | Often (30–79%) |
| Inguinal hernia | Often (30–79%) |
| Narrowing of anal opening | Often (30–79%) |
| Nasogastric tube feeding in infancy | Often (30–79%) |
| Oral-pharyngeal dysphagia | Often (30–79%) |
| Poor suck | Often (30–79%) |
| Intestinal malrotation | Sometimes (5–29%) |
| Loss of bowel control | Sometimes (5–29%) |
| Malnutrition | Sometimes (5–29%) |
| Omphalocele | Sometimes (5–29%) |
| Poor swallowing | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Narrow ear canal | Always |
| Chronic infections of the middle ear | Often (30–79%) |
| Recurrent middle ear infection | Often (30–79%) |
| Abnormal Eustachian tube morphology | Sometimes (5–29%) |
| Abnormality of the inner ear | Sometimes (5–29%) |
| Abnormality of the middle ear | Sometimes (5–29%) |
| Abnormally shaped ears | Sometimes (5–29%) |
| Conductive deafness | Sometimes (5–29%) |
| Sensorineural hearing impairment | Sometimes (5–29%) |
| Prominent ear | Rarely (1–4%) |
| Absent ear canal | Not recorded |
| Hearing impairment | Not recorded |
| Small ears | Not recorded |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Accessory nipple | Always |
| Small nipples | Always |
| Absent breast | Often (30–79%) |
| Absent nipple | Often (30–79%) |
| Two underdeveloped breasts | Often (30–79%) |
| Underdeveloped breasts | Often (30–79%) |
| Absent/small breasts | Sometimes (5–29%) |
| Absent/small nipples | Sometimes (5–29%) |
| Wide-spaced nipples | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Absence of tears in the eyes | Always |
| Abnormality of tear production | Very often (80–99%) |
| Corneal inflammation | Often (30–79%) |
| Damage to outer layer of the cornea of the eye | Often (30–79%) |
| Extreme sensitivity of the eyes to light | Often (30–79%) |
| Inflammatory abnormality of the eye | Often (30–79%) |
| Absent iris | Sometimes (5–29%) |
| Blue eyes | Not recorded |
| Drooping upper eyelid | Not recorded |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Decreased serum estradiol | Always |
| Elevated circulating follicle stimulating hormone level | Always |
| Anterior hypopituitarism | Sometimes (5–29%) |
| Decreased response to growth hormone stimulation test | Sometimes (5–29%) |
| Precocious puberty in females | Sometimes (5–29%) |
| Central diabetes insipidus | Not recorded |
| Hypogonadotropic hypogonadism | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Delayed speech and language development | Often (30–79%) |
| Speech articulation difficulties | Often (30–79%) |
| Behavioral abnormality | Sometimes (5–29%) |
| Intellectual disability | Sometimes (5–29%) |
| Low self-esteem | Sometimes (5–29%) |
| Specific learning disability | Rarely (1–4%) |
| Abnormality of the nervous system | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Small thymus | Sometimes (5–29%) |
| All organs on wrong side of body | Rarely (1–4%) |
| Hole in heart wall separating two lower heart chambers | Not recorded |
| Patent ductus arteriosus | Not recorded |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Amniotic constriction ring | Sometimes (5–29%) |
| High levels of amniotic fluid | Rarely (1–4%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Psoriasiform dermatitis | Rarely (1–4%) |
| Eczema | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Small sacrum | Often (30–79%) |
| Permanent flexion of the finger or toe | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Sometimes (5–29%) |
| Small for gestational age | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Cancer of lymphatic system | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Abnormal pattern of respiration | Often (30–79%) |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Nasal speech | Often (30–79%) |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to TP63 and how often each is seen. Find out more at hpo.jax.org.
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