Trăsături

Trăsături asociate cu TCF4

transcription factor 4

Human Phenotype Ontology asociază 163 trăsături cu TCF4, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability, severe	Întotdeauna
Repetitive movements	Întotdeauna
Absent speech development	Foarte des (80–99%)
Ataxia	Foarte des (80–99%)
Difficulty finding words	Foarte des (80–99%)
Difficulty sleeping	Foarte des (80–99%)
Echoing another person's speech	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Inability to speak	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
IQ between 34 and 49	Foarte des (80–99%)
Specific learning disability	Foarte des (80–99%)
Aplasia/Hypoplasia of the corpus callosum	Des (30–79%)
Epilepsy	Des (30–79%)
Inability to coordinate movements when walking	Des (30–79%)
Pauses in breathing while sleeping	Des (30–79%)
Small cerebral cortex	Des (30–79%)
Small hippocampus	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Aggressive behavior	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
Depression	Uneori (5–29%)
Happy demeanor	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Encephalopathy	Rar (1–4%)
Incoordination	Neînregistrat
Motor delay	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Întotdeauna
Abnormal biliary tract morphology	Foarte des (80–99%)
Constipation	Foarte des (80–99%)
Feeding difficulties	Foarte des (80–99%)
Inflammation of the esophagus	Foarte des (80–99%)
Slowed or blocked flow of bile from liver	Foarte des (80–99%)
Stomach hernia	Foarte des (80–99%)
Abnormal large intestine physiology	Des (30–79%)
Accumulation of fluid in the abdomen	Des (30–79%)
Enlarged liver	Des (30–79%)
Hepatic fibrosis	Des (30–79%)
Scar tissue replaces healthy tissue in the liver	Des (30–79%)
Ulcerative colitis	Des (30–79%)
Abdominal pain	Uneori (5–29%)
Adenocarcinoma of the large intestine	Uneori (5–29%)
Bile duct cancer	Uneori (5–29%)
Celiac disease	Uneori (5–29%)
Chronic liver failure	Uneori (5–29%)
Gallstones	Uneori (5–29%)
Hepatocellular carcinoma	Uneori (5–29%)
Jaundice	Uneori (5–29%)
Liver inflammation	Uneori (5–29%)
Pancreatic inflammation	Uneori (5–29%)
Acute liver failure	Rar (1–4%)
Enlarged colon lacking nerve cells	Rar (1–4%)
Neoplasm of the gallbladder	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Coarse facial features	Întotdeauna
Deep philtrum	Întotdeauna
Development of small head that was not present at birth	Întotdeauna
Flared nostrils	Întotdeauna
Sparse medial eyebrow	Întotdeauna
Wide mouth	Întotdeauna
Widely spaced teeth	Întotdeauna
Abnormal dental position	Foarte des (80–99%)
Abnormality of the palate	Foarte des (80–99%)
Abnormally small head	Foarte des (80–99%)
Full cheeks	Foarte des (80–99%)
Full lips	Foarte des (80–99%)
Narrow forehead	Foarte des (80–99%)
Nasal tip, upturned	Foarte des (80–99%)
Overhanging nasal tip	Foarte des (80–99%)
Prominent nasal bridge	Foarte des (80–99%)
Short neck	Foarte des (80–99%)
Short philtrum	Foarte des (80–99%)
Unerupted adult teeth	Foarte des (80–99%)
Upward slanting of the opening between the eyelids	Foarte des (80–99%)
Triangular nasal tip	Des (30–79%)
Fetal nuchal edema	Uneori (5–29%)
Open mouth	Neînregistrat
Wide nasal bridge	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Dropped arches	Întotdeauna
Small hand	Întotdeauna
Broad fingertip	Foarte des (80–99%)
Curvature of finger	Foarte des (80–99%)
Pes valgus	Foarte des (80–99%)
Short long bone of foot	Foarte des (80–99%)
Single transverse palmar crease	Foarte des (80–99%)
Tapered finger	Foarte des (80–99%)
Narrow foot	Des (30–79%)
Palmar telangiectasia	Des (30–79%)
Prominent fingertip pads	Des (30–79%)
Short 5th long bone of foot	Des (30–79%)
Clubbing of fingers and toes	Uneori (5–29%)
Overlapping toe	Uneori (5–29%)
Short 4th long bone of foot	Uneori (5–29%)
Short palm	Uneori (5–29%)
Curvature of digit	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Deeply set eye	Întotdeauna
Abnormal corneal endothelium morphology	Foarte des (80–99%)
Abnormal Descemet membrane morphology	Foarte des (80–99%)
Astigmatism	Foarte des (80–99%)
Close sighted	Foarte des (80–99%)
Corneal opacity	Foarte des (80–99%)
Decreased clarity of vision	Foarte des (80–99%)
Reduced number of corneal endothelial cells	Foarte des (80–99%)
Cross-eyed	Des (30–79%)
Difficulties with night vision	Des (30–79%)
Eye movement-induced pain	Des (30–79%)
Visual loss	Des (30–79%)
Uveitis	Rar (1–4%)
Corneal guttata	Neînregistrat
Visual impairment	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Fluid retention	Foarte des (80–99%)
Elevated alkaline phosphatase of hepatic origin	Des (30–79%)
Fever	Des (30–79%)
High liver enzymes	Des (30–79%)
Decreased circulating vitamin K concentration	Uneori (5–29%)
Deficient in vitamin D	Uneori (5–29%)
Fluid around lungs	Uneori (5–29%)
Low albumin	Uneori (5–29%)
Type 1 diabetes	Uneori (5–29%)
Vitamin A deficiency	Uneori (5–29%)
Vitamin E deficiency	Uneori (5–29%)
Amyloid deposition	Neînregistrat
Corneal stromal edema	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Dilated superficial abdominal veins	Des (30–79%)
Enlarged liver and spleen	Des (30–79%)
Increased spleen size	Des (30–79%)
Portal hypertension	Des (30–79%)
Spider hemangioma	Des (30–79%)
Cardiac failure	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Persistent blue color of hands or feet	Des (30–79%)
Frontal upsweep of hair	Uneori (5–29%)
Increased nail curvature	Uneori (5–29%)
Itching	Uneori (5–29%)
Patchy loss of skin color	Uneori (5–29%)
Spinal dimple	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Scoliosis	Des (30–79%)
Diffuse skeletal muscle wasting	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Osteoporosis	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Prolonged prothrombin time	Uneori (5–29%)
Hodgkin lymphoma	Rar (1–4%)
Abnormal eosinophil morphology	Neînregistrat
Histiocytosis	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Growth delay	Foarte des (80–99%)
Weight loss	Des (30–79%)
Growth delay as children	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Thickened helices	Întotdeauna
Abnormal helix morphology	Foarte des (80–99%)
Cupped ear	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Renal failure	Uneori (5–29%)
Short penis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Intermittent overbreathing	Foarte des (80–99%)
Abnormal pattern of respiration	Des (30–79%)
Rapid breathing	Des (30–79%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Autoimmunity	Foarte des (80–99%)
Recurrent systemic pyogenic infections	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Polyclonal elevation of circulating IgM concentration	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Accessory nipple	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Thyroid gland inflammation	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	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

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu TCF4 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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