Požymiai

Su GATA4 susiję požymiai

GATA binding protein 4

Žmogaus fenotipo ontologija sieja 148 požymių su GATA4, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

GATA4

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
An opening in the wall separating the top two chambers of the heart	Labai dažnai (80–99%)
Left-to-right shunt	Labai dažnai (80–99%)
Abnormal cardiac septum morphology	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Dažnai (30–79%)
Fainting spell	Dažnai (30–79%)
Hole in center of heart	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Dažnai (30–79%)
Narrowing of lung artery	Dažnai (30–79%)
Palpitations	Dažnai (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Dažnai (30–79%)
Right atrial enlargement	Dažnai (30–79%)
Systolic heart murmur	Dažnai (30–79%)
Tetralogy of Fallot	Dažnai (30–79%)
Abnormal aortic morphology	Kartais (5–29%)
Abnormal heart rate	Kartais (5–29%)
Abnormal left ventricular function	Kartais (5–29%)
Abnormal mitral valve morphology	Kartais (5–29%)
Atrial flutter	Kartais (5–29%)
Bundle branch block	Kartais (5–29%)
Cardiac failure	Kartais (5–29%)
Enlarged and thickened heart muscle	Kartais (5–29%)
First degree atrioventricular block	Kartais (5–29%)
Heart attack	Kartais (5–29%)
Increased blood pressure in blood vessels of lungs	Kartais (5–29%)
Mitral regurgitation	Kartais (5–29%)
Narrowing of pulmonic valve	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Right ventricular dilatation	Kartais (5–29%)
ST segment depression	Kartais (5–29%)
Supraventricular arrhythmia	Kartais (5–29%)
Supraventricular tachycardia	Kartais (5–29%)
Transposition of the great arteries	Kartais (5–29%)
Tricuspid regurgitation	Kartais (5–29%)
Underdeveloped left heart	Kartais (5–29%)
Aortic regurgitation	Retai (1–4 %)
Heart tip and four chambers point towards right side of body	Retai (1–4 %)
Increased pulmonary vascular resistance	Retai (1–4 %)
Mini stroke	Retai (1–4 %)
Right ventricular failure	Retai (1–4 %)
Stroke	Retai (1–4 %)
Primum atrial septal defect	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Undescended testes	Visada
Abnormal internal genitalia	Labai dažnai (80–99%)
Abnormal labia morphology	Labai dažnai (80–99%)
Abnormal scrotum morphology	Labai dažnai (80–99%)
Abnormal sex determination	Labai dažnai (80–99%)
Abnormal vagina morphology	Labai dažnai (80–99%)
Absent sperm in semen	Labai dažnai (80–99%)
Ambiguous external genitalia	Labai dažnai (80–99%)
Decreased fertility in females	Labai dažnai (80–99%)
Decreased testicular size	Labai dažnai (80–99%)
Enlarged clitoris	Labai dažnai (80–99%)
Female external genitalia in individual with 46,XY karyotype	Labai dažnai (80–99%)
Gonadal dysgenesis	Labai dažnai (80–99%)
Hypospadias	Labai dažnai (80–99%)
Male infertility	Labai dažnai (80–99%)
Primary amenorrhea	Labai dažnai (80–99%)
Short penis	Labai dažnai (80–99%)
Streak ovary	Labai dažnai (80–99%)
Underdeveloped penis	Labai dažnai (80–99%)
Underdeveloped vagina	Labai dažnai (80–99%)
Urogenital sinus anomaly	Labai dažnai (80–99%)
Vanishing testis	Labai dažnai (80–99%)
Corpus cavernosum hypoplasia	Dažnai (30–79%)
Gonadoblastoma	Dažnai (30–79%)
Microphallus	Dažnai (30–79%)
Perineal hypospadias	Dažnai (30–79%)
Ovarian gonadoblastoma	Kartais (5–29%)
Testicular gonadoblastoma	Kartais (5–29%)
Nephroblastoma	Retai (1–4 %)
Nephrotic syndrome	Retai (1–4 %)
Dysplastic testis	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormal of nasal shape	Labai dažnai (80–99%)
Broad forehead	Labai dažnai (80–99%)
Abnormally small head	Dažnai (30–79%)
Decreased volume of lip	Dažnai (30–79%)
Decreased width of the skull	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Flattened bony protrusion above eyes	Dažnai (30–79%)
High forehead	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Long, narrow head	Dažnai (30–79%)
Pit in front of the ear	Dažnai (30–79%)
Short neck	Dažnai (30–79%)
Short nose	Dažnai (30–79%)
Wide nasal bridge	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Full cheeks	Kartais (5–29%)
Prominent nasal bridge	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased serum estradiol	Labai dažnai (80–99%)
Decreased serum testosterone level	Labai dažnai (80–99%)
Elevated circulating follicle stimulating hormone level	Labai dažnai (80–99%)
Elevated circulating luteinizing hormone level	Labai dažnai (80–99%)
Hypergonadotropic hypogonadism	Labai dažnai (80–99%)
Increased circulating gonadotropin level	Labai dažnai (80–99%)
Delayed puberty	Dažnai (30–79%)
Absence of secondary sex characteristics	Kartais (5–29%)
Adrenal insufficiency	Kartais (5–29%)
Primary gonadal insufficiency	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Curvature of little finger	Labai dažnai (80–99%)
Short fingers or toes	Labai dažnai (80–99%)
Tapered finger	Dažnai (30–79%)
Attachment of thumb close to wrist	Kartais (5–29%)
Broad bone of big toe	Kartais (5–29%)
Broad thumb	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
Fluid accumulation in lower limbs	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Labai dažnai (80–99%)
Intellectual disability, mild	Labai dažnai (80–99%)
Attention deficit	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Poor speech	Dažnai (30–79%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulty	Dažnai (30–79%)
Exertional breathlessness	Dažnai (30–79%)
Breathing dysregulation	Kartais (5–29%)
Orthopnea	Kartais (5–29%)
Obstructive lung disease	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Prenatal growth deficiency	Labai dažnai (80–99%)
Growth delay	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)
Obesity	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Osteoporosis	Labai dažnai (80–99%)
Wide rib cage	Dažnai (30–79%)
Congenital diaphragmatic hernia	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Abnormally shaped ears	Dažnai (30–79%)
Dizziness	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Bulging eye	Dažnai (30–79%)
Cross-eyed	Kartais (5–29%)
Deeply set eye	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Limited armpit hair	Labai dažnai (80–99%)
Sparse pubic hair	Labai dažnai (80–99%)
Blue discoloration of the skin	Retai (1–4 %)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Chest pain	Dažnai (30–79%)
Decreased ability to exercise	Dažnai (30–79%)
Fatigue	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Thromboembolic stroke	Kartais (5–29%)
Thromboembolism	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Enlarged male breast	Labai dažnai (80–99%)
Wide-spaced nipples	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Pneumonia	Retai (1–4 %)
Recurrent bacterial infections	Retai (1–4 %)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Inguinal hernia	Visada

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 GATA4 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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