Tunnused

Geeniga TCF4 seotud tunnused

transcription factor 4

Inimese fenotüübi ontoloogia seostab geeniga TCF4 163 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Intellectual disability, severe	Alati
Repetitive movements	Alati
Absent speech development	Väga sageli (80–99%)
Ataxia	Väga sageli (80–99%)
Difficulty finding words	Väga sageli (80–99%)
Difficulty sleeping	Väga sageli (80–99%)
Echoing another person's speech	Väga sageli (80–99%)
Global developmental delay	Väga sageli (80–99%)
Inability to speak	Väga sageli (80–99%)
Intellectual disability	Väga sageli (80–99%)
IQ between 34 and 49	Väga sageli (80–99%)
Specific learning disability	Väga sageli (80–99%)
Aplasia/Hypoplasia of the corpus callosum	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Inability to coordinate movements when walking	Sageli (30–79%)
Pauses in breathing while sleeping	Sageli (30–79%)
Small cerebral cortex	Sageli (30–79%)
Small hippocampus	Sageli (30–79%)
Underdevelopment of part of brain called corpus callosum	Sageli (30–79%)
Aggressive behavior	Mõnikord (5–29%)
Autism spectrum disorder	Mõnikord (5–29%)
Depression	Mõnikord (5–29%)
Happy demeanor	Mõnikord (5–29%)
Self-injurious behavior	Mõnikord (5–29%)
Ventriculomegaly	Mõnikord (5–29%)
Encephalopathy	Harva (1–4%)
Incoordination	Pole registreeritud
Motor delay	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Acid reflux	Alati
Abnormal biliary tract morphology	Väga sageli (80–99%)
Constipation	Väga sageli (80–99%)
Feeding difficulties	Väga sageli (80–99%)
Inflammation of the esophagus	Väga sageli (80–99%)
Slowed or blocked flow of bile from liver	Väga sageli (80–99%)
Stomach hernia	Väga sageli (80–99%)
Abnormal large intestine physiology	Sageli (30–79%)
Accumulation of fluid in the abdomen	Sageli (30–79%)
Enlarged liver	Sageli (30–79%)
Hepatic fibrosis	Sageli (30–79%)
Scar tissue replaces healthy tissue in the liver	Sageli (30–79%)
Ulcerative colitis	Sageli (30–79%)
Abdominal pain	Mõnikord (5–29%)
Adenocarcinoma of the large intestine	Mõnikord (5–29%)
Bile duct cancer	Mõnikord (5–29%)
Celiac disease	Mõnikord (5–29%)
Chronic liver failure	Mõnikord (5–29%)
Gallstones	Mõnikord (5–29%)
Hepatocellular carcinoma	Mõnikord (5–29%)
Jaundice	Mõnikord (5–29%)
Liver inflammation	Mõnikord (5–29%)
Pancreatic inflammation	Mõnikord (5–29%)
Acute liver failure	Harva (1–4%)
Enlarged colon lacking nerve cells	Harva (1–4%)
Neoplasm of the gallbladder	Harva (1–4%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Coarse facial features	Alati
Deep philtrum	Alati
Development of small head that was not present at birth	Alati
Flared nostrils	Alati
Sparse medial eyebrow	Alati
Wide mouth	Alati
Widely spaced teeth	Alati
Abnormal dental position	Väga sageli (80–99%)
Abnormality of the palate	Väga sageli (80–99%)
Abnormally small head	Väga sageli (80–99%)
Full cheeks	Väga sageli (80–99%)
Full lips	Väga sageli (80–99%)
Narrow forehead	Väga sageli (80–99%)
Nasal tip, upturned	Väga sageli (80–99%)
Overhanging nasal tip	Väga sageli (80–99%)
Prominent nasal bridge	Väga sageli (80–99%)
Short neck	Väga sageli (80–99%)
Short philtrum	Väga sageli (80–99%)
Unerupted adult teeth	Väga sageli (80–99%)
Upward slanting of the opening between the eyelids	Väga sageli (80–99%)
Triangular nasal tip	Sageli (30–79%)
Fetal nuchal edema	Mõnikord (5–29%)
Open mouth	Pole registreeritud
Wide nasal bridge	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Dropped arches	Alati
Small hand	Alati
Broad fingertip	Väga sageli (80–99%)
Curvature of finger	Väga sageli (80–99%)
Pes valgus	Väga sageli (80–99%)
Short long bone of foot	Väga sageli (80–99%)
Single transverse palmar crease	Väga sageli (80–99%)
Tapered finger	Väga sageli (80–99%)
Narrow foot	Sageli (30–79%)
Palmar telangiectasia	Sageli (30–79%)
Prominent fingertip pads	Sageli (30–79%)
Short 5th long bone of foot	Sageli (30–79%)
Clubbing of fingers and toes	Mõnikord (5–29%)
Overlapping toe	Mõnikord (5–29%)
Short 4th long bone of foot	Mõnikord (5–29%)
Short palm	Mõnikord (5–29%)
Curvature of digit	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Deeply set eye	Alati
Abnormal corneal endothelium morphology	Väga sageli (80–99%)
Abnormal Descemet membrane morphology	Väga sageli (80–99%)
Astigmatism	Väga sageli (80–99%)
Close sighted	Väga sageli (80–99%)
Corneal opacity	Väga sageli (80–99%)
Decreased clarity of vision	Väga sageli (80–99%)
Reduced number of corneal endothelial cells	Väga sageli (80–99%)
Cross-eyed	Sageli (30–79%)
Difficulties with night vision	Sageli (30–79%)
Eye movement-induced pain	Sageli (30–79%)
Visual loss	Sageli (30–79%)
Uveitis	Harva (1–4%)
Corneal guttata	Pole registreeritud
Visual impairment	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Fluid retention	Väga sageli (80–99%)
Elevated alkaline phosphatase of hepatic origin	Sageli (30–79%)
Fever	Sageli (30–79%)
High liver enzymes	Sageli (30–79%)
Decreased circulating vitamin K concentration	Mõnikord (5–29%)
Deficient in vitamin D	Mõnikord (5–29%)
Fluid around lungs	Mõnikord (5–29%)
Low albumin	Mõnikord (5–29%)
Type 1 diabetes	Mõnikord (5–29%)
Vitamin A deficiency	Mõnikord (5–29%)
Vitamin E deficiency	Mõnikord (5–29%)
Amyloid deposition	Pole registreeritud
Corneal stromal edema	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Dilated superficial abdominal veins	Sageli (30–79%)
Enlarged liver and spleen	Sageli (30–79%)
Increased spleen size	Sageli (30–79%)
Portal hypertension	Sageli (30–79%)
Spider hemangioma	Sageli (30–79%)
Cardiac failure	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Persistent blue color of hands or feet	Sageli (30–79%)
Frontal upsweep of hair	Mõnikord (5–29%)
Increased nail curvature	Mõnikord (5–29%)
Itching	Mõnikord (5–29%)
Patchy loss of skin color	Mõnikord (5–29%)
Spinal dimple	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Alati
Scoliosis	Sageli (30–79%)
Diffuse skeletal muscle wasting	Mõnikord (5–29%)
Osteopenia	Mõnikord (5–29%)
Osteoporosis	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Prolonged prothrombin time	Mõnikord (5–29%)
Hodgkin lymphoma	Harva (1–4%)
Abnormal eosinophil morphology	Pole registreeritud
Histiocytosis	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Väga sageli (80–99%)
Growth delay	Väga sageli (80–99%)
Weight loss	Sageli (30–79%)
Growth delay as children	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Thickened helices	Alati
Abnormal helix morphology	Väga sageli (80–99%)
Cupped ear	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Renal failure	Mõnikord (5–29%)
Short penis	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Intermittent overbreathing	Väga sageli (80–99%)
Abnormal pattern of respiration	Sageli (30–79%)
Rapid breathing	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Autoimmunity	Väga sageli (80–99%)
Recurrent systemic pyogenic infections	Pole registreeritud

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Polyclonal elevation of circulating IgM concentration	Mõnikord (5–29%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Accessory nipple	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Thyroid gland inflammation	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Fatigue	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga TCF4 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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