Požymiai

Su SMAD4 susiję požymiai

SMAD family member 4

Žmogaus fenotipo ontologija sieja 235 požymių su SMAD4, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the cardiovascular system

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

Abnormality of head or neck

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

Abnormality of the digestive system

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

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Enlarged vertebral pedicles	Visada
Excessive inward curvature of lower spine	Visada
Generalized increase in muscle cell size	Visada
Hunched back	Visada
Hypoplastic iliac wing	Visada
Increased skeletal muscle cells	Visada
Joint stiffness	Visada
Limitation of joint mobility	Visada
Short long bone	Visada
Spasticity and rigidity of muscles	Visada
Abnormality of connective tissue	Labai dažnai (80–99%)
Abnormality of the pubic bone	Labai dažnai (80–99%)
Abnormality of the ribs	Labai dažnai (80–99%)
Back pain	Labai dažnai (80–99%)
Flattened vertebrae	Labai dažnai (80–99%)
Large iliac wing	Labai dažnai (80–99%)
Abnormal shape of end part of bone	Dažnai (30–79%)
Broad ribs	Dažnai (30–79%)
Cone-shaped end part of bone	Dažnai (30–79%)
Delayed bone maturation	Dažnai (30–79%)
EMG abnormality	Dažnai (30–79%)
Abnormality of the sternum	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Permanent flexion of the finger or toe	Neužfiksuota
Vertebral fusion	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Short fingers or toes	Visada
Short foot	Visada
Short palm	Visada
Abnormality of the wide portion of a long bone	Dažnai (30–79%)
Clubbing of fingers and toes	Dažnai (30–79%)
Curvature of little finger	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
Long slender fingers	Kartais (5–29%)
Overlapping toe	Neužfiksuota
Radial deviation of finger	Neužfiksuota
Short finger	Neužfiksuota
Short toe	Neužfiksuota
Webbed 2nd and 3rd toes	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Epilepsy	Visada
Speech articulation difficulties	Visada
Global developmental delay	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Specific learning disability	Labai dažnai (80–99%)
Migraine	Dažnai (30–79%)
Ataxia	Kartais (5–29%)
Autism	Kartais (5–29%)
Behavioral abnormality	Kartais (5–29%)
Dural ectasia	Kartais (5–29%)
More active than typical	Kartais (5–29%)
Psychosis	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bleeding in brain	Visada
Low blood cell count	Visada
Bleeding tendency	Labai dažnai (80–99%)
Bloody nose	Labai dažnai (80–99%)
Low number of red blood cells or hemoglobin	Labai dažnai (80–99%)
Recurring nosebleed	Labai dažnai (80–99%)
Rectal bleeding	Dažnai (30–79%)
Blood clot in vein	Kartais (5–29%)
Bruising susceptibility	Kartais (5–29%)
Gastrointestinal bleeding	Kartais (5–29%)
Subarachnoid hemorrhage	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Prenatal growth deficiency	Labai dažnai (80–99%)
Severe short stature	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Weight loss	Labai dažnai (80–99%)
Birth length less than 3rd percentile	Dažnai (30–79%)
Faltering weight	Dažnai (30–79%)
Obesity	Dažnai (30–79%)
Small for gestational age	Dažnai (30–79%)
Growth delay	Kartais (5–29%)
Tall stature	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormality of the iris	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Severe farsightedness	Dažnai (30–79%)
Abnormally small eyeball	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)
Deeply set eye	Neužfiksuota
Farsightedness	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Chicken skin	Visada
Cyanotic episode	Visada
Thickened skin	Labai dažnai (80–99%)
Anemic pallor	Dažnai (30–79%)
Stiff skin	Dažnai (30–79%)
Spinal dimple	Kartais (5–29%)
Fine hair	Neužfiksuota
Sparse hair	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Exertional breathlessness	Dažnai (30–79%)
Paroxysmal dyspnea	Dažnai (30–79%)
Collapsed lung	Kartais (5–29%)
Coughing up blood	Kartais (5–29%)
Respiratory failure	Kartais (5–29%)
Respiratory function loss	Kartais (5–29%)
Laryngotracheal stenosis	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Undescended testes	Dažnai (30–79%)
Abnormality of the penis	Kartais (5–29%)
Epispadias	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Ovarian carcinoma	Kartais (5–29%)
Underdevelopment of external reproductive organs	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Diabetes mellitus	Kartais (5–29%)
Fluid retention	Kartais (5–29%)
High liver enzymes	Kartais (5–29%)
Increased level of L-fucose in urine	Neužfiksuota
Low albumin	Neužfiksuota
Low blood potassium levels	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Small earlobe	Visada
Hearing impairment	Labai dažnai (80–99%)
Small ears	Kartais (5–29%)
Low-set ears	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased activity of gonads	Kartais (5–29%)
Early onset of puberty	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Chronic fatigue	Labai dažnai (80–99%)
Chest pain	Dažnai (30–79%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Cancer of skin pigment cells	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Breast cancer	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Abnormality of the voice	Neužfiksuota

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.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su SMAD4 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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