Traits

Traits linked to TRIP13

thyroid hormone receptor interactor 13

The Human Phenotype Ontology links 100 traits to TRIP13, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Cât de frecvent apare
Dandy-Walker malformation	Foarte des (80–99%)
Eye folds	Foarte des (80–99%)
Increased nuchal translucency	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Abnormally small head	Des (30–79%)
Triangular face	Des (30–79%)
Abnormality of the skull	Uneori (5–29%)
Beaked nose	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Flat nose	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
High forehead	Uneori (5–29%)
Sloping forehead	Uneori (5–29%)
Wide nose	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Female infertility	Întotdeauna
Nephroblastoma	Întotdeauna
Metaphase I oocyte maturation arrest	Des (30–79%)
Abnormal kidney location	Uneori (5–29%)
Abnormal uterus morphology	Uneori (5–29%)
Ambiguous external genitalia	Uneori (5–29%)
Horseshoe kidney	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Multicystic kidney dysplasia	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Vaginal tumor	Uneori (5–29%)
Varicocele	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Abnormally small eyeball	Foarte des (80–99%)
Clouding of the lens of the eye	Foarte des (80–99%)
Corneal opacity	Foarte des (80–99%)
Glaucoma	Foarte des (80–99%)
Abnormality of the eye	Des (30–79%)
Abnormality of vision	Des (30–79%)
Absent iris	Uneori (5–29%)
Deeply set eye	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Rod-cone dystrophy	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Abdominal mass	Foarte des (80–99%)
Accumulation of fluid in the abdomen	Foarte des (80–99%)
Abdominal pain	Des (30–79%)
Duplication of renal pelvis	Des (30–79%)
Absence or narrowing of first part of small bowel	Uneori (5–29%)
Colon cancer	Uneori (5–29%)
Growths in inner lining of intestine	Uneori (5–29%)
Liver cancer	Uneori (5–29%)
Stomach cancer	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Abnormal aortic morphology	Uneori (5–29%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Aortic regurgitation	Uneori (5–29%)
High blood pressure	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Narrowing of blood vessel below aortic heart valve	Uneori (5–29%)
Swollen lymph nodes	Uneori (5–29%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Ventriculomegaly	Foarte des (80–99%)
Global developmental delay	Des (30–79%)
Intellectual disability	Des (30–79%)
Absent/small cerebellum	Uneori (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Holoprosencephaly	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Muscular dystrophy	Foarte des (80–99%)
Abnormality of the skeletal system	Uneori (5–29%)
Arthrogryposis multiplex congenita	Uneori (5–29%)
Breakdown of bone	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)
Rhabdomyosarcoma	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Acute lymphoblastic leukemia	Uneori (5–29%)
Increased red blood cells	Uneori (5–29%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)
Myelodysplasia	Uneori (5–29%)
Reduced von Willebrand factor activity	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Abnormal lung lobation	Uneori (5–29%)
Apnea	Uneori (5–29%)
Lung cancer	Uneori (5–29%)
Breathing difficulty	Rar (1–4%)

Growth abnormality

Trait	Cât de frecvent apare
Short stature	Întotdeauna
Growth delay	Des (30–79%)
Prenatal growth deficiency	Uneori (5–29%)
Weight loss	Uneori (5–29%)

Laboratory abnormality

Trait	Cât de frecvent apare
Bloody urine	Des (30–79%)
Fever	Uneori (5–29%)
High blood calcium levels	Uneori (5–29%)
Small amount of blood in urine	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Abnormality of the upper limb	Uneori (5–29%)
Asymmetric overgrowth	Uneori (5–29%)
Curvature of little finger	Uneori (5–29%)

Abnormality of the ear

Trait	Cât de frecvent apare
Ears rotated toward back of head	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Low-set ears	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Abnormal skin pigmentation	Uneori (5–29%)
Few cafe-au-lait spots	Uneori (5–29%)
Multiple birthmarks	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
High levels of amniotic fluid	Foarte des (80–99%)
Zygotic cleavage failure	Uneori (5–29%)

Abnormal cellular phenotype

Trait	Cât de frecvent apare
Premature chromatid separation	Întotdeauna

Abnormal tissue mass

Trait	Cât de frecvent apare
Abnormal tissue mass	Foarte des (80–99%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Underactive thyroid	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Abnormality of immune system physiology	Uneori (5–29%)

Constitutional symptom

Trait	Cât de frecvent apare
Malaise	Uneori (5–29%)

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TRIP13 and how often each is seen. Find out more at hpo.jax.org.

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