Traits

Traits linked to SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

The Human Phenotype Ontology links 98 traits to SOS1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Depressed nasal bridge	Visada
Eye folds	Visada
Gingival fibromatosis	Visada
Sparse eyebrow	Visada
Cystic hygroma	Labai dažnai (80–99%)
Downward slanting of the opening between the eyelids	Labai dažnai (80–99%)
Full lips	Labai dažnai (80–99%)
Full lower lip	Labai dažnai (80–99%)
Gum enlargement	Labai dažnai (80–99%)
High forehead	Labai dažnai (80–99%)
High palate	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Midface retrusion	Labai dažnai (80–99%)
Short neck	Labai dažnai (80–99%)
Thickened skin folds of neck	Labai dažnai (80–99%)
Triangular face	Labai dažnai (80–99%)
Webbed neck	Labai dažnai (80–99%)
Wide mouth	Labai dažnai (80–99%)
Big calvaria	Dažnai (30–79%)
Low hairline at back of neck	Dažnai (30–79%)
Bad bite	Neužfiksuota
High frontal hairline	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Labai dažnai (80–99%)
Abnormal EKG	Labai dažnai (80–99%)
Narrowing of lung artery	Labai dažnai (80–99%)
Abnormal heart rate	Dažnai (30–79%)
Abnormal pulmonary valve morphology	Dažnai (30–79%)
Abnormality of the lymphatic system	Dažnai (30–79%)
Abnormality of the spleen	Dažnai (30–79%)
Narrowing of pulmonic valve	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Enlarged and thickened heart muscle	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Narrowing of aorta	Kartais (5–29%)
Patent ductus arteriosus	Retai (1–4 %)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Abnormality of the sternum	Visada
Delayed bone maturation	Visada
Funnel chest	Visada
Scoliosis	Visada
Double-Jointed	Labai dažnai (80–99%)
Muscle weakness	Labai dažnai (80–99%)
Pigeon chest	Labai dažnai (80–99%)
Wide rib cage	Labai dažnai (80–99%)
Low muscle tone	Dažnai (30–79%)
Osteopenia	Kartais (5–29%)
Pectus excavatum of inferior sternum	Neužfiksuota

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Prolonged partial thromboplastin time	Visada
Reduced factor VIII activity	Visada
Reduced factor XI activity	Visada
Abnormal platelet function	Dažnai (30–79%)
Abnormality of coagulation	Dažnai (30–79%)
Bleeding tendency	Dažnai (30–79%)
Bruising susceptibility	Kartais (5–29%)
Juvenile myelomonocytic leukemia	Kartais (5–29%)
Low platelet count	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Blue eyes	Visada
Drooping of both upper eyelids	Visada
Drooping upper eyelid	Visada
Wide-set eyes	Visada
Bulging eye	Labai dažnai (80–99%)
Cross-eyed	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Curly hair	Labai dažnai (80–99%)
Abnormal fingerprints	Dažnai (30–79%)
Abnormal hair quantity	Dažnai (30–79%)
Chicken skin	Dažnai (30–79%)
Coarse hair	Dažnai (30–79%)
Beauty mark	Kartais (5–29%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Ears rotated toward back of head	Visada
Low-set ears	Visada
Thickened helices	Visada
Aplasia of the semicircular canal	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Abnormality of the reproductive system	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Dilatation of the renal pelvis	Kartais (5–29%)
Double ureter	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Abnormal speech pattern	Labai dažnai (80–99%)
Difficulty articulating speech	Labai dažnai (80–99%)
Neurodevelopmental delay	Dažnai (30–79%)
Intellectual disability	Kartais (5–29%)
Specific learning disability	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Curvature of little finger	Kartais (5–29%)
Fused forearm bones	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Outward turned elbows	Neužfiksuota

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Absent/small abdominal wall muscles	Labai dažnai (80–99%)
Enlarged liver	Dažnai (30–79%)
Feeding difficulties in infancy	Dažnai (30–79%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	Labai dažnai (80–99%)
Birth weight > 90th percentile	Dažnai (30–79%)
Growth delay as children	Kartais (5–29%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Hypogonadotropic hypogonadism	Labai dažnai (80–99%)
Delayed start of first period	Kartais (5–29%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
High levels of amniotic fluid	Visada

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Wide-spaced nipples	Visada

Laboratory abnormality

Trait	Kaip dažnai pasireiškia
Swelling caused by excess lymph fluid under skin	Kartais (5–29%)

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SOS1 and how often each is seen. Find out more at hpo.jax.org.

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