Trăsături

Trăsături asociate cu SKI

SKI proto-oncogene

Human Phenotype Ontology asociază 164 trăsături cu SKI, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SKI

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Corners of eye widely separated	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
High palate	Foarte des (80–99%)
High, narrow palate	Foarte des (80–99%)
Horizontal eyebrow	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Long philtrum	Foarte des (80–99%)
Long, narrow head	Foarte des (80–99%)
Midface retrusion	Foarte des (80–99%)
Pointed chin	Foarte des (80–99%)
Receding chin	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Abnormality of the eyebrow	Des (30–79%)
Abnormally small head	Des (30–79%)
Broad head shape	Des (30–79%)
Decreased depth of eye sockets	Des (30–79%)
Decreased size of maxilla	Des (30–79%)
Deformity of the skull	Des (30–79%)
Delayed cranial suture closure	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Eye folds	Des (30–79%)
Flat nose	Des (30–79%)
Frontal bossing	Des (30–79%)
High forehead	Des (30–79%)
Narrow mouth	Des (30–79%)
Prominent forehead	Des (30–79%)
Abnormality of the neck	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Bad bite	Neînregistrat
High, prominent forehead	Neînregistrat
Narrow palate	Neînregistrat
Wider-than-typical soft spot of skull	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal gait	Foarte des (80–99%)
Abnormal speech pattern	Foarte des (80–99%)
Absent speech development	Foarte des (80–99%)
Agenesis of corpus callosum	Foarte des (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
EEG abnormality	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Poor speech	Foarte des (80–99%)
Ventriculomegaly	Foarte des (80–99%)
Autism	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Communicating hydrocephalus	Des (30–79%)
Epilepsy	Des (30–79%)
Repetitive movements	Des (30–79%)
Self-injurious behavior	Des (30–79%)
Too much cerebrospinal fluid in the brain	Des (30–79%)
Cancer of early nerve cells	Uneori (5–29%)
Chiari malformation	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Increased appetite	Uneori (5–29%)
Obstructive sleep apnea	Uneori (5–29%)
Paralysis or weakness of one side of body	Uneori (5–29%)
Chiari type I malformation	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
Double-Jointed	Des (30–79%)
Funnel chest	Des (30–79%)
Permanent flexion of the finger or toe	Des (30–79%)
Pigeon chest	Des (30–79%)
Scoliosis	Des (30–79%)
11 pairs of ribs	Uneori (5–29%)
Abdominal wall muscle weakness	Uneori (5–29%)
Abnormal formation of the hip	Uneori (5–29%)
Abnormal vertebral body morphology	Uneori (5–29%)
Cleft ribs	Uneori (5–29%)
Extra ribs	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Joint stiffness	Uneori (5–29%)
Missing ribs	Uneori (5–29%)
Muscle tissue disease	Uneori (5–29%)
Narrow chest	Uneori (5–29%)
Narrow spinal canal	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Rib fusion	Uneori (5–29%)
C1-C2 vertebral abnormality	Neînregistrat
Generalized decreased muscle tone	Neînregistrat
Hook-shaped collarbone	Neînregistrat
Thin ribs	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Dropped arches	Foarte des (80–99%)
Long slender fingers	Foarte des (80–99%)
Permanent flexion of the finger	Foarte des (80–99%)
Short fingers or toes	Foarte des (80–99%)
Short foot	Foarte des (80–99%)
Club feet	Des (30–79%)
Curvature of little finger	Des (30–79%)
Abnormality of the wide portion of a long bone	Uneori (5–29%)
Bowing of the long bones	Uneori (5–29%)
Broad wide portion of long bone	Uneori (5–29%)
Dislocated radial head	Uneori (5–29%)
Duplication of bones of the toes	Uneori (5–29%)
Elbow dislocation	Uneori (5–29%)
Joint contracture of the hand	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Left and right leg differ in length or width	Uneori (5–29%)
Back knee	Neînregistrat
Front half of foot turns inward	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal aortic valve morphology	Des (30–79%)
Abnormal cardiovascular system morphology	Des (30–79%)
Mitral regurgitation	Des (30–79%)
Mitral valve prolapse	Des (30–79%)
Abnormal cardiac septum morphology	Uneori (5–29%)
Abnormal heart valve morphology	Uneori (5–29%)
Abnormality of the spleen	Uneori (5–29%)
Aortic arch aneurysm	Uneori (5–29%)
Bulge in wall of large artery that carries blood away from heart	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Spider veins	Uneori (5–29%)
Stretched and thinned heart muscle	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Foarte des (80–99%)
Deeply set eye	Foarte des (80–99%)
Wide-set eyes	Foarte des (80–99%)
Abnormality of vision	Des (30–79%)
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Severe farsightedness	Des (30–79%)
Absent pigmentation in the eye	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Visual impairment	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Des (30–79%)
Constipation	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Inguinal hernia	Des (30–79%)
Poor swallowing	Des (30–79%)
Umbilical hernia	Des (30–79%)
Abnormality of the anus	Uneori (5–29%)
Abnormality of the intestine	Uneori (5–29%)
Abnormality of the liver	Uneori (5–29%)
Absent/small abdominal wall muscles	Uneori (5–29%)
Annular pancreas	Uneori (5–29%)
Pyloric stenosis	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Foarte des (80–99%)
Low-set ears	Foarte des (80–99%)
Conductive deafness	Uneori (5–29%)
Prominent ear	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Small ears	Uneori (5–29%)
Abnormally shaped ears	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal female external genitalia	Uneori (5–29%)
Abnormality of the kidney	Uneori (5–29%)
Cystic kidney disease	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Underdeveloped penis	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal blistering of the skin	Uneori (5–29%)
Excessive hairiness over body	Uneori (5–29%)
Flat, discolored area of skin	Uneori (5–29%)
Hyperelastic skin	Uneori (5–29%)
Minimal fat below the skin	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Obesity	Uneori (5–29%)
Short stature	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased activity of gonads	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Abnormality of the immune system	Uneori (5–29%)

Abnormality of the respiratory system

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

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Fatty infiltration of liver	Uneori (5–29%)

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

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