Požymiai

Su TCF4 susiję požymiai

transcription factor 4

Žmogaus fenotipo ontologija sieja 163 požymių su TCF4, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Intellectual disability, severe	Visada
Repetitive movements	Visada
Absent speech development	Labai dažnai (80–99%)
Ataxia	Labai dažnai (80–99%)
Difficulty finding words	Labai dažnai (80–99%)
Difficulty sleeping	Labai dažnai (80–99%)
Echoing another person's speech	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Inability to speak	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
IQ between 34 and 49	Labai dažnai (80–99%)
Specific learning disability	Labai dažnai (80–99%)
Aplasia/Hypoplasia of the corpus callosum	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Inability to coordinate movements when walking	Dažnai (30–79%)
Pauses in breathing while sleeping	Dažnai (30–79%)
Small cerebral cortex	Dažnai (30–79%)
Small hippocampus	Dažnai (30–79%)
Underdevelopment of part of brain called corpus callosum	Dažnai (30–79%)
Aggressive behavior	Kartais (5–29%)
Autism spectrum disorder	Kartais (5–29%)
Depression	Kartais (5–29%)
Happy demeanor	Kartais (5–29%)
Self-injurious behavior	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
Encephalopathy	Retai (1–4 %)
Incoordination	Neužfiksuota
Motor delay	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Acid reflux	Visada
Abnormal biliary tract morphology	Labai dažnai (80–99%)
Constipation	Labai dažnai (80–99%)
Feeding difficulties	Labai dažnai (80–99%)
Inflammation of the esophagus	Labai dažnai (80–99%)
Slowed or blocked flow of bile from liver	Labai dažnai (80–99%)
Stomach hernia	Labai dažnai (80–99%)
Abnormal large intestine physiology	Dažnai (30–79%)
Accumulation of fluid in the abdomen	Dažnai (30–79%)
Enlarged liver	Dažnai (30–79%)
Hepatic fibrosis	Dažnai (30–79%)
Scar tissue replaces healthy tissue in the liver	Dažnai (30–79%)
Ulcerative colitis	Dažnai (30–79%)
Abdominal pain	Kartais (5–29%)
Adenocarcinoma of the large intestine	Kartais (5–29%)
Bile duct cancer	Kartais (5–29%)
Celiac disease	Kartais (5–29%)
Chronic liver failure	Kartais (5–29%)
Gallstones	Kartais (5–29%)
Hepatocellular carcinoma	Kartais (5–29%)
Jaundice	Kartais (5–29%)
Liver inflammation	Kartais (5–29%)
Pancreatic inflammation	Kartais (5–29%)
Acute liver failure	Retai (1–4 %)
Enlarged colon lacking nerve cells	Retai (1–4 %)
Neoplasm of the gallbladder	Retai (1–4 %)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Coarse facial features	Visada
Deep philtrum	Visada
Development of small head that was not present at birth	Visada
Flared nostrils	Visada
Sparse medial eyebrow	Visada
Wide mouth	Visada
Widely spaced teeth	Visada
Abnormal dental position	Labai dažnai (80–99%)
Abnormality of the palate	Labai dažnai (80–99%)
Abnormally small head	Labai dažnai (80–99%)
Full cheeks	Labai dažnai (80–99%)
Full lips	Labai dažnai (80–99%)
Narrow forehead	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Overhanging nasal tip	Labai dažnai (80–99%)
Prominent nasal bridge	Labai dažnai (80–99%)
Short neck	Labai dažnai (80–99%)
Short philtrum	Labai dažnai (80–99%)
Unerupted adult teeth	Labai dažnai (80–99%)
Upward slanting of the opening between the eyelids	Labai dažnai (80–99%)
Triangular nasal tip	Dažnai (30–79%)
Fetal nuchal edema	Kartais (5–29%)
Open mouth	Neužfiksuota
Wide nasal bridge	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Dropped arches	Visada
Small hand	Visada
Broad fingertip	Labai dažnai (80–99%)
Curvature of finger	Labai dažnai (80–99%)
Pes valgus	Labai dažnai (80–99%)
Short long bone of foot	Labai dažnai (80–99%)
Single transverse palmar crease	Labai dažnai (80–99%)
Tapered finger	Labai dažnai (80–99%)
Narrow foot	Dažnai (30–79%)
Palmar telangiectasia	Dažnai (30–79%)
Prominent fingertip pads	Dažnai (30–79%)
Short 5th long bone of foot	Dažnai (30–79%)
Clubbing of fingers and toes	Kartais (5–29%)
Overlapping toe	Kartais (5–29%)
Short 4th long bone of foot	Kartais (5–29%)
Short palm	Kartais (5–29%)
Curvature of digit	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Deeply set eye	Visada
Abnormal corneal endothelium morphology	Labai dažnai (80–99%)
Abnormal Descemet membrane morphology	Labai dažnai (80–99%)
Astigmatism	Labai dažnai (80–99%)
Close sighted	Labai dažnai (80–99%)
Corneal opacity	Labai dažnai (80–99%)
Decreased clarity of vision	Labai dažnai (80–99%)
Reduced number of corneal endothelial cells	Labai dažnai (80–99%)
Cross-eyed	Dažnai (30–79%)
Difficulties with night vision	Dažnai (30–79%)
Eye movement-induced pain	Dažnai (30–79%)
Visual loss	Dažnai (30–79%)
Uveitis	Retai (1–4 %)
Corneal guttata	Neužfiksuota
Visual impairment	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Fluid retention	Labai dažnai (80–99%)
Elevated alkaline phosphatase of hepatic origin	Dažnai (30–79%)
Fever	Dažnai (30–79%)
High liver enzymes	Dažnai (30–79%)
Decreased circulating vitamin K concentration	Kartais (5–29%)
Deficient in vitamin D	Kartais (5–29%)
Fluid around lungs	Kartais (5–29%)
Low albumin	Kartais (5–29%)
Type 1 diabetes	Kartais (5–29%)
Vitamin A deficiency	Kartais (5–29%)
Vitamin E deficiency	Kartais (5–29%)
Amyloid deposition	Neužfiksuota
Corneal stromal edema	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Dilated superficial abdominal veins	Dažnai (30–79%)
Enlarged liver and spleen	Dažnai (30–79%)
Increased spleen size	Dažnai (30–79%)
Portal hypertension	Dažnai (30–79%)
Spider hemangioma	Dažnai (30–79%)
Cardiac failure	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Persistent blue color of hands or feet	Dažnai (30–79%)
Frontal upsweep of hair	Kartais (5–29%)
Increased nail curvature	Kartais (5–29%)
Itching	Kartais (5–29%)
Patchy loss of skin color	Kartais (5–29%)
Spinal dimple	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Visada
Scoliosis	Dažnai (30–79%)
Diffuse skeletal muscle wasting	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Osteoporosis	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Prolonged prothrombin time	Kartais (5–29%)
Hodgkin lymphoma	Retai (1–4 %)
Abnormal eosinophil morphology	Neužfiksuota
Histiocytosis	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)
Growth delay	Labai dažnai (80–99%)
Weight loss	Dažnai (30–79%)
Growth delay as children	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Thickened helices	Visada
Abnormal helix morphology	Labai dažnai (80–99%)
Cupped ear	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Renal failure	Kartais (5–29%)
Short penis	Kartais (5–29%)
Undescended testes	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Intermittent overbreathing	Labai dažnai (80–99%)
Abnormal pattern of respiration	Dažnai (30–79%)
Rapid breathing	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Autoimmunity	Labai dažnai (80–99%)
Recurrent systemic pyogenic infections	Neužfiksuota

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Polyclonal elevation of circulating IgM concentration	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Accessory nipple	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Thyroid gland inflammation	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Kartais (5–29%)

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.

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Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su TCF4 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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