Požymiai

Su SKI susiję požymiai

SKI proto-oncogene

Žmogaus fenotipo ontologija sieja 164 požymių su SKI, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

SKI

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Labai dažnai (80–99%)
Double-Jointed	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Permanent flexion of the finger or toe	Dažnai (30–79%)
Pigeon chest	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
11 pairs of ribs	Kartais (5–29%)
Abdominal wall muscle weakness	Kartais (5–29%)
Abnormal formation of the hip	Kartais (5–29%)
Abnormal vertebral body morphology	Kartais (5–29%)
Cleft ribs	Kartais (5–29%)
Extra ribs	Kartais (5–29%)
Hunched back	Kartais (5–29%)
Joint stiffness	Kartais (5–29%)
Missing ribs	Kartais (5–29%)
Muscle tissue disease	Kartais (5–29%)
Narrow chest	Kartais (5–29%)
Narrow spinal canal	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Rib fusion	Kartais (5–29%)
C1-C2 vertebral abnormality	Neužfiksuota
Generalized decreased muscle tone	Neužfiksuota
Hook-shaped collarbone	Neužfiksuota
Thin ribs	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Dropped arches	Labai dažnai (80–99%)
Long slender fingers	Labai dažnai (80–99%)
Permanent flexion of the finger	Labai dažnai (80–99%)
Short fingers or toes	Labai dažnai (80–99%)
Short foot	Labai dažnai (80–99%)
Club feet	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Abnormality of the wide portion of a long bone	Kartais (5–29%)
Bowing of the long bones	Kartais (5–29%)
Broad wide portion of long bone	Kartais (5–29%)
Dislocated radial head	Kartais (5–29%)
Duplication of bones of the toes	Kartais (5–29%)
Elbow dislocation	Kartais (5–29%)
Joint contracture of the hand	Kartais (5–29%)
Knock knees	Kartais (5–29%)
Left and right leg differ in length or width	Kartais (5–29%)
Back knee	Neužfiksuota
Front half of foot turns inward	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal aortic valve morphology	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Dažnai (30–79%)
Mitral regurgitation	Dažnai (30–79%)
Mitral valve prolapse	Dažnai (30–79%)
Abnormal cardiac septum morphology	Kartais (5–29%)
Abnormal heart valve morphology	Kartais (5–29%)
Abnormality of the spleen	Kartais (5–29%)
Aortic arch aneurysm	Kartais (5–29%)
Bulge in wall of large artery that carries blood away from heart	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Spider veins	Kartais (5–29%)
Stretched and thinned heart muscle	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Bulging eye	Labai dažnai (80–99%)
Deeply set eye	Labai dažnai (80–99%)
Wide-set eyes	Labai dažnai (80–99%)
Abnormality of vision	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Severe farsightedness	Dažnai (30–79%)
Absent pigmentation in the eye	Kartais (5–29%)
Close sighted	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Visual impairment	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Acid reflux	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Feeding difficulties in infancy	Dažnai (30–79%)
Inguinal hernia	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Umbilical hernia	Dažnai (30–79%)
Abnormality of the anus	Kartais (5–29%)
Abnormality of the intestine	Kartais (5–29%)
Abnormality of the liver	Kartais (5–29%)
Absent/small abdominal wall muscles	Kartais (5–29%)
Annular pancreas	Kartais (5–29%)
Pyloric stenosis	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Labai dažnai (80–99%)
Low-set ears	Labai dažnai (80–99%)
Conductive deafness	Kartais (5–29%)
Prominent ear	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)
Small ears	Kartais (5–29%)
Abnormally shaped ears	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal female external genitalia	Kartais (5–29%)
Abnormality of the kidney	Kartais (5–29%)
Cystic kidney disease	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Underdeveloped penis	Kartais (5–29%)
Undescended testes	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormal blistering of the skin	Kartais (5–29%)
Excessive hairiness over body	Kartais (5–29%)
Flat, discolored area of skin	Kartais (5–29%)
Hyperelastic skin	Kartais (5–29%)
Minimal fat below the skin	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)
Obesity	Kartais (5–29%)
Short stature	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased activity of gonads	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Abnormality of the immune system	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Apnea	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Fatty infiltration of liver	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

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

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