Trăsături

Trăsături asociate cu GATA4

GATA binding protein 4

Human Phenotype Ontology asociază 148 trăsături cu GATA4, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the cardiovascular system

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

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Întotdeauna
Abnormal internal genitalia	Foarte des (80–99%)
Abnormal labia morphology	Foarte des (80–99%)
Abnormal scrotum morphology	Foarte des (80–99%)
Abnormal sex determination	Foarte des (80–99%)
Abnormal vagina morphology	Foarte des (80–99%)
Absent sperm in semen	Foarte des (80–99%)
Ambiguous external genitalia	Foarte des (80–99%)
Decreased fertility in females	Foarte des (80–99%)
Decreased testicular size	Foarte des (80–99%)
Enlarged clitoris	Foarte des (80–99%)
Female external genitalia in individual with 46,XY karyotype	Foarte des (80–99%)
Gonadal dysgenesis	Foarte des (80–99%)
Hypospadias	Foarte des (80–99%)
Male infertility	Foarte des (80–99%)
Primary amenorrhea	Foarte des (80–99%)
Short penis	Foarte des (80–99%)
Streak ovary	Foarte des (80–99%)
Underdeveloped penis	Foarte des (80–99%)
Underdeveloped vagina	Foarte des (80–99%)
Urogenital sinus anomaly	Foarte des (80–99%)
Vanishing testis	Foarte des (80–99%)
Corpus cavernosum hypoplasia	Des (30–79%)
Gonadoblastoma	Des (30–79%)
Microphallus	Des (30–79%)
Perineal hypospadias	Des (30–79%)
Ovarian gonadoblastoma	Uneori (5–29%)
Testicular gonadoblastoma	Uneori (5–29%)
Nephroblastoma	Rar (1–4%)
Nephrotic syndrome	Rar (1–4%)
Dysplastic testis	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal of nasal shape	Foarte des (80–99%)
Broad forehead	Foarte des (80–99%)
Abnormally small head	Des (30–79%)
Decreased volume of lip	Des (30–79%)
Decreased width of the skull	Des (30–79%)
Eye folds	Des (30–79%)
Flattened bony protrusion above eyes	Des (30–79%)
High forehead	Des (30–79%)
High palate	Des (30–79%)
Little lower jaw	Des (30–79%)
Long, narrow head	Des (30–79%)
Pit in front of the ear	Des (30–79%)
Short neck	Des (30–79%)
Short nose	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Full cheeks	Uneori (5–29%)
Prominent nasal bridge	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased serum estradiol	Foarte des (80–99%)
Decreased serum testosterone level	Foarte des (80–99%)
Elevated circulating follicle stimulating hormone level	Foarte des (80–99%)
Elevated circulating luteinizing hormone level	Foarte des (80–99%)
Hypergonadotropic hypogonadism	Foarte des (80–99%)
Increased circulating gonadotropin level	Foarte des (80–99%)
Delayed puberty	Des (30–79%)
Absence of secondary sex characteristics	Uneori (5–29%)
Adrenal insufficiency	Uneori (5–29%)
Primary gonadal insufficiency	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of little finger	Foarte des (80–99%)
Short fingers or toes	Foarte des (80–99%)
Tapered finger	Des (30–79%)
Attachment of thumb close to wrist	Uneori (5–29%)
Broad bone of big toe	Uneori (5–29%)
Broad thumb	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Fluid accumulation in lower limbs	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Foarte des (80–99%)
Intellectual disability, mild	Foarte des (80–99%)
Attention deficit	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Epilepsy	Des (30–79%)
Poor speech	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulty	Des (30–79%)
Exertional breathlessness	Des (30–79%)
Breathing dysregulation	Uneori (5–29%)
Orthopnea	Uneori (5–29%)
Obstructive lung disease	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Foarte des (80–99%)
Growth delay	Des (30–79%)
Short stature	Des (30–79%)
Weight loss	Des (30–79%)
Obesity	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Osteoporosis	Foarte des (80–99%)
Wide rib cage	Des (30–79%)
Congenital diaphragmatic hernia	Uneori (5–29%)
Delayed bone maturation	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormally shaped ears	Des (30–79%)
Dizziness	Des (30–79%)
Low-set ears	Des (30–79%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Des (30–79%)
Cross-eyed	Uneori (5–29%)
Deeply set eye	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Limited armpit hair	Foarte des (80–99%)
Sparse pubic hair	Foarte des (80–99%)
Blue discoloration of the skin	Rar (1–4%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chest pain	Des (30–79%)
Decreased ability to exercise	Des (30–79%)
Fatigue	Des (30–79%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Thromboembolic stroke	Uneori (5–29%)
Thromboembolism	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Enlarged male breast	Foarte des (80–99%)
Wide-spaced nipples	Des (30–79%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Pneumonia	Rar (1–4%)
Recurrent bacterial infections	Rar (1–4%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Inguinal hernia	Întotdeauna

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 GATA4 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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