Traits

Traits linked to SMAD2

SMAD family member 2

The Human Phenotype Ontology links 130 traits to SMAD2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	나타나는 빈도
An opening in the wall separating the top two chambers of the heart	항상
Aortic valve has two leaflets rather than three	항상
Arterial tortuosity	항상
Narrowing of pulmonic valve	항상
Patent ductus arteriosus	항상
Truncus arteriosus	항상
Aneurysm	매우 자주 (80–99%)
Arterial dissection	매우 자주 (80–99%)
Bulge in wall of large artery that carries blood away from heart	매우 자주 (80–99%)
Cutis marmorata	매우 자주 (80–99%)
Double outlet right ventricle	매우 자주 (80–99%)
Mucoid extracellular matrix accumulation	매우 자주 (80–99%)
Tear in inner wall of large artery that carries blood away from heart	매우 자주 (80–99%)
Abnormal left ventricular function	자주 (30–79%)
Anomalous pulmonary venous return	자주 (30–79%)
Aortic regurgitation	자주 (30–79%)
Ascending aortic dissection	자주 (30–79%)
Carotid artery dilatation	자주 (30–79%)
Descending aortic dissection	자주 (30–79%)
Dextrotransposition of the great arteries	자주 (30–79%)
Enlarged heart	자주 (30–79%)
Heart tip and four chambers point towards right side of body	자주 (30–79%)
High blood pressure	자주 (30–79%)
Hole in heart wall separating two lower heart chambers	자주 (30–79%)
Left superior vena cava draining directly to the left atrium	자주 (30–79%)
Partial anomalous pulmonary venous return	자주 (30–79%)
Plaque build-up in arteries supplying blood to heart	자주 (30–79%)
Thoracic aortic aneurysm	자주 (30–79%)
Unbalanced atrioventricular canal defect	자주 (30–79%)
Varicose veins	자주 (30–79%)
Ventricular hypertrophy	자주 (30–79%)
Vertebral artery aneurysm	자주 (30–79%)
Abdominal aortic aneurysm	가끔 (5–29%)
Absent spleen	가끔 (5–29%)
Brain aneurysm	가끔 (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	가끔 (5–29%)
Carotid artery dissection	가끔 (5–29%)
Depleted blood volume	가끔 (5–29%)
Descending thoracic aorta aneurysm	가끔 (5–29%)
Heart stops beating	가끔 (5–29%)
Ischemic stroke	가끔 (5–29%)
Mini stroke	가끔 (5–29%)
Mitral atresia	가끔 (5–29%)
Mitral regurgitation	가끔 (5–29%)
Peripheral arterial stenosis	가끔 (5–29%)
Persistent left superior vena cava	가끔 (5–29%)
Pulmonary valve atresia	가끔 (5–29%)
Stroke	가끔 (5–29%)

Abnormality of head or neck

Trait	나타나는 빈도
Long face	항상
Midface retrusion	항상
Only one upper front tooth	항상
Bifid uvula	자주 (30–79%)
Broad forehead	자주 (30–79%)
Cleft of the mouth	자주 (30–79%)
Cleft palate	자주 (30–79%)
Deformity of the skull	자주 (30–79%)
Dental crowding	자주 (30–79%)
Depressed nasal bridge	자주 (30–79%)
High palate	자주 (30–79%)
Little lower jaw	자주 (30–79%)
Short nose	자주 (30–79%)
Zygomatic flattening	자주 (30–79%)
Broad uvula	가끔 (5–29%)
Downward slanting of the opening between the eyelids	가끔 (5–29%)
High, narrow palate	가끔 (5–29%)
Long, narrow head	가끔 (5–29%)
Receding chin	가끔 (5–29%)

Abnormality of the musculoskeletal system

Trait	나타나는 빈도
Degenerative joint disease	항상
Abnormality of connective tissue	매우 자주 (80–99%)
Double-Jointed	자주 (30–79%)
Hip osteoarthritis	자주 (30–79%)
Intervertebral disk degeneration	자주 (30–79%)
Scoliosis	자주 (30–79%)
Abnormality of the sternum	가끔 (5–29%)
Congenital diaphragmatic hernia	가끔 (5–29%)
Funnel chest	가끔 (5–29%)
Joint dislocation	가끔 (5–29%)
Pigeon chest	가끔 (5–29%)

Abnormality of limbs

Trait	나타나는 빈도
Dropped arches	매우 자주 (80–99%)
Club feet	자주 (30–79%)
Fused toes	자주 (30–79%)
Knee osteoarthritis	자주 (30–79%)
Long slender fingers	자주 (30–79%)
Permanent flexion of the finger	자주 (30–79%)
Single transverse palmar crease	자주 (30–79%)
Bilateral single transverse palmar creases	가끔 (5–29%)

Abnormality of the respiratory system

Trait	나타나는 빈도
Exertional breathlessness	자주 (30–79%)
Paroxysmal dyspnea	자주 (30–79%)
Softening of voice box tissue	자주 (30–79%)
Collapsed lung	가끔 (5–29%)
Coughing up blood	가끔 (5–29%)
Spontaneous collapsed lung	가끔 (5–29%)
Subglottic stenosis	가끔 (5–29%)

Abnormality of the digestive system

Trait	나타나는 빈도
Meckel diverticulum	항상
Abdominal situs ambiguus	자주 (30–79%)
Inguinal hernia	자주 (30–79%)
Umbilical hernia	자주 (30–79%)
Eosinophilic infiltration of the esophagus	가끔 (5–29%)
Intestinal malrotation	가끔 (5–29%)

Abnormality of the nervous system

Trait	나타나는 빈도
Lateral ventricle dilatation	항상
Global developmental delay	자주 (30–79%)
Migraine	자주 (30–79%)
Dural ectasia	가끔 (5–29%)
Epilepsy	가끔 (5–29%)

Growth abnormality

Trait	나타나는 빈도
Short stature	항상
Faltering weight	자주 (30–79%)
Tall stature	자주 (30–79%)
Disproportionate tall stature	가끔 (5–29%)
Isomerism	가끔 (5–29%)

Abnormality of the eye

Trait	나타나는 빈도
Abnormality of the iris	자주 (30–79%)
Blue outer white part of eyeball	자주 (30–79%)
Wide-set eyes	자주 (30–79%)
Close sighted	가끔 (5–29%)

Abnormality of the integument

Trait	나타나는 빈도
Atypical scarring of skin	자주 (30–79%)
Stretch marks	자주 (30–79%)
Dermal translucency	가끔 (5–29%)
Thin skin	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

Trait	나타나는 빈도
Bruising susceptibility	자주 (30–79%)
Bleeding tendency	가끔 (5–29%)
Subarachnoid hemorrhage	가끔 (5–29%)

Constitutional symptom

Trait	나타나는 빈도
Chest pain	자주 (30–79%)
Chronic fatigue	자주 (30–79%)
Joint pain	자주 (30–79%)

Abnormality of the ear

Trait	나타나는 빈도
Ears rotated toward back of head	자주 (30–79%)
Low-set ears	자주 (30–79%)

Abnormality of the endocrine system

Trait	나타나는 빈도
Ectopic posterior pituitary	항상
Underdeveloped pituitary gland	항상

Abnormality of the immune system

Trait	나타나는 빈도
Asthma	자주 (30–79%)
Eczema	자주 (30–79%)

Abnormality of the genitourinary system

Trait	나타나는 빈도
Uterine rupture	매우 자주 (80–99%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SMAD2 and how often each is seen. Find out more at hpo.jax.org.

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