Tunnused

Geeniga SKI seotud tunnused

SKI proto-oncogene

Inimese fenotüübi ontoloogia seostab geeniga SKI 164 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

SKI

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Väga sageli (80–99%)
Double-Jointed	Sageli (30–79%)
Funnel chest	Sageli (30–79%)
Permanent flexion of the finger or toe	Sageli (30–79%)
Pigeon chest	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
11 pairs of ribs	Mõnikord (5–29%)
Abdominal wall muscle weakness	Mõnikord (5–29%)
Abnormal formation of the hip	Mõnikord (5–29%)
Abnormal vertebral body morphology	Mõnikord (5–29%)
Cleft ribs	Mõnikord (5–29%)
Extra ribs	Mõnikord (5–29%)
Hunched back	Mõnikord (5–29%)
Joint stiffness	Mõnikord (5–29%)
Missing ribs	Mõnikord (5–29%)
Muscle tissue disease	Mõnikord (5–29%)
Narrow chest	Mõnikord (5–29%)
Narrow spinal canal	Mõnikord (5–29%)
Osteopenia	Mõnikord (5–29%)
Rib fusion	Mõnikord (5–29%)
C1-C2 vertebral abnormality	Pole registreeritud
Generalized decreased muscle tone	Pole registreeritud
Hook-shaped collarbone	Pole registreeritud
Thin ribs	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Dropped arches	Väga sageli (80–99%)
Long slender fingers	Väga sageli (80–99%)
Permanent flexion of the finger	Väga sageli (80–99%)
Short fingers or toes	Väga sageli (80–99%)
Short foot	Väga sageli (80–99%)
Club feet	Sageli (30–79%)
Curvature of little finger	Sageli (30–79%)
Abnormality of the wide portion of a long bone	Mõnikord (5–29%)
Bowing of the long bones	Mõnikord (5–29%)
Broad wide portion of long bone	Mõnikord (5–29%)
Dislocated radial head	Mõnikord (5–29%)
Duplication of bones of the toes	Mõnikord (5–29%)
Elbow dislocation	Mõnikord (5–29%)
Joint contracture of the hand	Mõnikord (5–29%)
Knock knees	Mõnikord (5–29%)
Left and right leg differ in length or width	Mõnikord (5–29%)
Back knee	Pole registreeritud
Front half of foot turns inward	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal aortic valve morphology	Sageli (30–79%)
Abnormal cardiovascular system morphology	Sageli (30–79%)
Mitral regurgitation	Sageli (30–79%)
Mitral valve prolapse	Sageli (30–79%)
Abnormal cardiac septum morphology	Mõnikord (5–29%)
Abnormal heart valve morphology	Mõnikord (5–29%)
Abnormality of the spleen	Mõnikord (5–29%)
Aortic arch aneurysm	Mõnikord (5–29%)
Bulge in wall of large artery that carries blood away from heart	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)
Spider veins	Mõnikord (5–29%)
Stretched and thinned heart muscle	Mõnikord (5–29%)
Tetralogy of Fallot	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Bulging eye	Väga sageli (80–99%)
Deeply set eye	Väga sageli (80–99%)
Wide-set eyes	Väga sageli (80–99%)
Abnormality of vision	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Severe farsightedness	Sageli (30–79%)
Absent pigmentation in the eye	Mõnikord (5–29%)
Close sighted	Mõnikord (5–29%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Visual impairment	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Acid reflux	Sageli (30–79%)
Constipation	Sageli (30–79%)
Feeding difficulties in infancy	Sageli (30–79%)
Inguinal hernia	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Umbilical hernia	Sageli (30–79%)
Abnormality of the anus	Mõnikord (5–29%)
Abnormality of the intestine	Mõnikord (5–29%)
Abnormality of the liver	Mõnikord (5–29%)
Absent/small abdominal wall muscles	Mõnikord (5–29%)
Annular pancreas	Mõnikord (5–29%)
Pyloric stenosis	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Väga sageli (80–99%)
Low-set ears	Väga sageli (80–99%)
Conductive deafness	Mõnikord (5–29%)
Prominent ear	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)
Small ears	Mõnikord (5–29%)
Abnormally shaped ears	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormal female external genitalia	Mõnikord (5–29%)
Abnormality of the kidney	Mõnikord (5–29%)
Cystic kidney disease	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)
Hypospadias	Mõnikord (5–29%)
Underdeveloped penis	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal blistering of the skin	Mõnikord (5–29%)
Excessive hairiness over body	Mõnikord (5–29%)
Flat, discolored area of skin	Mõnikord (5–29%)
Hyperelastic skin	Mõnikord (5–29%)
Minimal fat below the skin	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Väga sageli (80–99%)
Obesity	Mõnikord (5–29%)
Short stature	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased activity of gonads	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the immune system	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Apnea	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Fatty infiltration of liver	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga SKI seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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