Trăsături

Trăsături asociate cu SMAD4

SMAD family member 4

Human Phenotype Ontology asociază 235 trăsături cu SMAD4, 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
Collection of dilated blood vessels that forms mass	Întotdeauna
Cutis marmorata	Foarte des (80–99%)
Mucoid extracellular matrix accumulation	Foarte des (80–99%)
Mucosal telangiectasiae	Foarte des (80–99%)
Spider veins	Foarte des (80–99%)
Telangiectasia of the skin	Foarte des (80–99%)
Abnormal cardiac septum morphology	Des (30–79%)
Abnormal cardiovascular system physiology	Des (30–79%)
Abnormal left ventricular function	Des (30–79%)
Aortic regurgitation	Des (30–79%)
Arteriovenous malformation	Des (30–79%)
Ascending aortic dissection	Des (30–79%)
Descending aortic dissection	Des (30–79%)
Enlarged heart	Des (30–79%)
Hepatic arteriovenous malformation	Des (30–79%)
High blood pressure	Des (30–79%)
Patent ductus arteriosus	Des (30–79%)
Plaque build-up in arteries supplying blood to heart	Des (30–79%)
Portal hypertension	Des (30–79%)
Pulmonary arteriovenous malformation	Des (30–79%)
Swollen lymph nodes	Des (30–79%)
Visceral angiomatosis	Des (30–79%)
Abdominal aortic aneurysm	Uneori (5–29%)
Abnormality of the cerebral blood vessels	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Blood clot in artery of lung	Uneori (5–29%)
Brain aneurysm	Uneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Uneori (5–29%)
Cardiac failure	Uneori (5–29%)
Carotid artery dilatation	Uneori (5–29%)
Cerebral arteriovenous malformation	Uneori (5–29%)
Depleted blood volume	Uneori (5–29%)
Descending thoracic aorta aneurysm	Uneori (5–29%)
Enlarged liver and spleen	Uneori (5–29%)
Gastrointestinal arteriovenous malformation	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)
Ischemic stroke	Uneori (5–29%)
Mini stroke	Uneori (5–29%)
Narrowing of pulmonic valve	Uneori (5–29%)
Peripheral arterial stenosis	Uneori (5–29%)
Peripheral arteriovenous fistula	Uneori (5–29%)
Retinal telangiectasia	Uneori (5–29%)
Stroke	Uneori (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Uneori (5–29%)
Fluid around heart	Neînregistrat
Narrowing of aorta	Neînregistrat
Narrowing of aortic valve	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Big lower jaw	Întotdeauna
Highly arched eyebrow	Întotdeauna
Increased thickness of skull cap	Întotdeauna
Long eyelashes	Întotdeauna
Midface retrusion	Întotdeauna
Short philtrum	Întotdeauna
Decreased size of maxilla	Foarte des (80–99%)
Decreased volume of lip	Foarte des (80–99%)
Enlargement of craniofacial bones	Foarte des (80–99%)
Narrow eyelid opening	Foarte des (80–99%)
Narrow mouth	Foarte des (80–99%)
Spider veins of mucosa of nose	Foarte des (80–99%)
Spider veins of the lip	Foarte des (80–99%)
Spider veins of the tongue	Foarte des (80–99%)
Thin red part of the upper lip	Foarte des (80–99%)
Abnormal lip	Des (30–79%)
Narrow opening between the eyelids	Des (30–79%)
Short opening between the eyelids	Des (30–79%)
Bifid uvula	Uneori (5–29%)
Big calvaria	Uneori (5–29%)
Cleft lip	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Gingival cleft	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)
One sided cleft upper lip	Uneori (5–29%)
Receding chin	Uneori (5–29%)
Small dilated blood vessels near membrane covering front of eye and eyelids	Uneori (5–29%)
Submucous cleft hard palate	Uneori (5–29%)
Velopharyngeal incompetence	Uneori (5–29%)
Abnormally small head	Neînregistrat
Prominent nasal bridge	Neînregistrat
Short neck	Neînregistrat
Thick eyebrow	Neînregistrat
Zygomatic flattening	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Juvenile colonic polyposis	Întotdeauna
Juvenile gastrointestinal polyposis	Întotdeauna
Pancreatic adenocarcinoma	Întotdeauna
Abdominal pain	Foarte des (80–99%)
Anorexia	Foarte des (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Foarte des (80–99%)
Poor appetite	Foarte des (80–99%)
Adenomatous colonic polyposis	Des (30–79%)
Diarrhea	Des (30–79%)
Extrahepatic cholestasis	Des (30–79%)
Functional intestinal obstruction	Des (30–79%)
Intestinal pseudo-obstruction	Des (30–79%)
Jaundice	Des (30–79%)
Multiple gastric polyps	Des (30–79%)
Rectal polyposis	Des (30–79%)
Colon cancer	Uneori (5–29%)
Duodenal adenocarcinoma	Uneori (5–29%)
Duodenal stenosis	Uneori (5–29%)
Enlarged vein in esophagus	Uneori (5–29%)
Femoral hernia	Uneori (5–29%)
Growths in inner lining of intestine	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)
Intermittent diarrhea	Uneori (5–29%)
Intussusception	Uneori (5–29%)
Liver cancer	Uneori (5–29%)
Liver failure	Uneori (5–29%)
Nausea and vomiting	Uneori (5–29%)
Peritoneal abscess	Uneori (5–29%)
Rectum protrudes through anus	Uneori (5–29%)
Scar tissue replaces healthy tissue in the liver	Uneori (5–29%)
Stomach tumor	Uneori (5–29%)
Duodenal polyposis	Rar (1–4%)
Small intestinal polyposis	Rar (1–4%)
Cancer of the pancreas	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Enlarged vertebral pedicles	Întotdeauna
Excessive inward curvature of lower spine	Întotdeauna
Generalized increase in muscle cell size	Întotdeauna
Hunched back	Întotdeauna
Hypoplastic iliac wing	Întotdeauna
Increased skeletal muscle cells	Întotdeauna
Joint stiffness	Întotdeauna
Limitation of joint mobility	Întotdeauna
Short long bone	Întotdeauna
Spasticity and rigidity of muscles	Întotdeauna
Abnormality of connective tissue	Foarte des (80–99%)
Abnormality of the pubic bone	Foarte des (80–99%)
Abnormality of the ribs	Foarte des (80–99%)
Back pain	Foarte des (80–99%)
Flattened vertebrae	Foarte des (80–99%)
Large iliac wing	Foarte des (80–99%)
Abnormal shape of end part of bone	Des (30–79%)
Broad ribs	Des (30–79%)
Cone-shaped end part of bone	Des (30–79%)
Delayed bone maturation	Des (30–79%)
EMG abnormality	Des (30–79%)
Abnormality of the sternum	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Permanent flexion of the finger or toe	Neînregistrat
Vertebral fusion	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Short fingers or toes	Întotdeauna
Short foot	Întotdeauna
Short palm	Întotdeauna
Abnormality of the wide portion of a long bone	Des (30–79%)
Clubbing of fingers and toes	Des (30–79%)
Curvature of little finger	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Long slender fingers	Uneori (5–29%)
Overlapping toe	Neînregistrat
Radial deviation of finger	Neînregistrat
Short finger	Neînregistrat
Short toe	Neînregistrat
Webbed 2nd and 3rd toes	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Epilepsy	Întotdeauna
Speech articulation difficulties	Întotdeauna
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Specific learning disability	Foarte des (80–99%)
Migraine	Des (30–79%)
Ataxia	Uneori (5–29%)
Autism	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Dural ectasia	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Psychosis	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding in brain	Întotdeauna
Low blood cell count	Întotdeauna
Bleeding tendency	Foarte des (80–99%)
Bloody nose	Foarte des (80–99%)
Low number of red blood cells or hemoglobin	Foarte des (80–99%)
Recurring nosebleed	Foarte des (80–99%)
Rectal bleeding	Des (30–79%)
Blood clot in vein	Uneori (5–29%)
Bruising susceptibility	Uneori (5–29%)
Gastrointestinal bleeding	Uneori (5–29%)
Subarachnoid hemorrhage	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Foarte des (80–99%)
Severe short stature	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Weight loss	Foarte des (80–99%)
Birth length less than 3rd percentile	Des (30–79%)
Faltering weight	Des (30–79%)
Obesity	Des (30–79%)
Small for gestational age	Des (30–79%)
Growth delay	Uneori (5–29%)
Tall stature	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of the iris	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Severe farsightedness	Des (30–79%)
Abnormally small eyeball	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)
Deeply set eye	Neînregistrat
Farsightedness	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Chicken skin	Întotdeauna
Cyanotic episode	Întotdeauna
Thickened skin	Foarte des (80–99%)
Anemic pallor	Des (30–79%)
Stiff skin	Des (30–79%)
Spinal dimple	Uneori (5–29%)
Fine hair	Neînregistrat
Sparse hair	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Exertional breathlessness	Des (30–79%)
Paroxysmal dyspnea	Des (30–79%)
Collapsed lung	Uneori (5–29%)
Coughing up blood	Uneori (5–29%)
Respiratory failure	Uneori (5–29%)
Respiratory function loss	Uneori (5–29%)
Laryngotracheal stenosis	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Des (30–79%)
Abnormality of the penis	Uneori (5–29%)
Epispadias	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Ovarian carcinoma	Uneori (5–29%)
Underdevelopment of external reproductive organs	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Diabetes mellitus	Uneori (5–29%)
Fluid retention	Uneori (5–29%)
High liver enzymes	Uneori (5–29%)
Increased level of L-fucose in urine	Neînregistrat
Low albumin	Neînregistrat
Low blood potassium levels	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Small earlobe	Întotdeauna
Hearing impairment	Foarte des (80–99%)
Small ears	Uneori (5–29%)
Low-set ears	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased activity of gonads	Uneori (5–29%)
Early onset of puberty	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chronic fatigue	Foarte des (80–99%)
Chest pain	Des (30–79%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of skin pigment cells	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Breast cancer	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Abnormality of the voice	Neînregistrat

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 SMAD4 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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