Tunnused

Geeniga SALL4 seotud tunnused

spalt like transcription factor 4

Inimese fenotüübi ontoloogia seostab geeniga SALL4 149 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Short thighbone	Alati
Underdeveloped inner large forearm bone	Alati
Underdeveloped outer large forearm bone	Alati
Abnormal morphology of the radius	Väga sageli (80–99%)
Abnormality of the thumb	Väga sageli (80–99%)
Aplasia/Hypoplasia of the radius	Väga sageli (80–99%)
Short outermost bone of the thumb	Väga sageli (80–99%)
Short thumb	Väga sageli (80–99%)
Small thenar eminence	Väga sageli (80–99%)
Absent thumb	Sageli (30–79%)
Broad bone of big toe	Sageli (30–79%)
Extra thumb	Sageli (30–79%)
Finger-like thumb	Sageli (30–79%)
Fused forearm bones	Sageli (30–79%)
Fused wrist bones	Sageli (30–79%)
Fusion of wrist bones	Sageli (30–79%)
Gap between 1st and 2nd toes	Sageli (30–79%)
Radial ray deficiency	Sageli (30–79%)
Short big toe	Sageli (30–79%)
Upper limb undergrowth	Sageli (30–79%)
Absent/small thumb	Mõnikord (5–29%)
Club feet	Mõnikord (5–29%)
Finger syndactyly	Mõnikord (5–29%)
Fused toes	Mõnikord (5–29%)
Missing outer large bone of forearm	Mõnikord (5–29%)
Preaxial polydactyly	Mõnikord (5–29%)
Short fingers or toes	Mõnikord (5–29%)
Short humerus	Mõnikord (5–29%)
Small pec muscle	Mõnikord (5–29%)
Talipes	Mõnikord (5–29%)
Absent long bone of hand	Pole registreeritud
Dropped arches	Pole registreeritud
Hypoplasia of deltoid muscle	Pole registreeritud
Limited elbow movement	Pole registreeritud
Limited movement of hinge joints	Pole registreeritud
Limited wrist movement	Pole registreeritud
Radial deviation of the hand	Pole registreeritud
Shortened 1st long bone of hand	Pole registreeritud
Small carpal bones	Pole registreeritud
Underdevelopment of upper limb muscles	Pole registreeritud
Webbed fingers or toes	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormality of eye movement	Väga sageli (80–99%)
Abnormally small eyeball	Väga sageli (80–99%)
Cross-eyed	Väga sageli (80–99%)
Duane anomaly	Väga sageli (80–99%)
Oculomotor apraxia	Väga sageli (80–99%)
Oculomotor nerve palsy	Väga sageli (80–99%)
Deeply set eye	Sageli (30–79%)
Impaired ocular abduction	Sageli (30–79%)
Impaired ocular adduction	Sageli (30–79%)
Optic disc coloboma	Sageli (30–79%)
Optic disc hypoplasia	Sageli (30–79%)
Paroxysmal tonic upgaze	Sageli (30–79%)
Visual impairment	Sageli (30–79%)
Abnormality of the pupil	Mõnikord (5–29%)
Absent iris	Mõnikord (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Mõnikord (5–29%)
Cat eye	Mõnikord (5–29%)
Central heterochromia	Mõnikord (5–29%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Compensatory head posture	Mõnikord (5–29%)
Cornea of eye less than 10mm in diameter	Mõnikord (5–29%)
Drooping upper eyelid	Mõnikord (5–29%)
Gustatory lacrimation	Mõnikord (5–29%)
Hypoplastic iris stroma	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Lazy eye	Mõnikord (5–29%)
Marcus Gunn jaw winking synkinesis	Mõnikord (5–29%)
Notched pupil	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)
Hole in the back of the eye	Pole registreeritud
Impaired convergence	Pole registreeritud
Paralysis or weakness of muscles within or surrounding outer part of eye	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Short opening between the eyelids	Väga sageli (80–99%)
Low hairline at back of neck	Sageli (30–79%)
Narrow opening between the eyelids	Sageli (30–79%)
Nasal tip, upturned	Sageli (30–79%)
Abnormally small head	Mõnikord (5–29%)
Asymmetry of the posterior head	Mõnikord (5–29%)
Cleft palate	Mõnikord (5–29%)
Drooping lower lip	Mõnikord (5–29%)
Eye folds	Mõnikord (5–29%)
Eyelid spasm	Mõnikord (5–29%)
Facial asymmetry	Mõnikord (5–29%)
Frontal bossing	Mõnikord (5–29%)
Little lower jaw	Mõnikord (5–29%)
Short neck	Mõnikord (5–29%)
Skin tag in front of the ear	Mõnikord (5–29%)
Webbed neck	Mõnikord (5–29%)
Wide nasal bridge	Mõnikord (5–29%)
Abnormal nasopharynx morphology	Pole registreeritud
Bell's palsy	Pole registreeritud
Blockage of the rear opening of the nasal cavity	Pole registreeritud
Narrowing of the rear opening of the nasal cavity	Pole registreeritud
Palpebral fissure narrowing on adduction	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Shoulder dislocation	Alati
Joint stiffness	Väga sageli (80–99%)
Abnormal vertebral segmentation and fusion	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Abnormal vertebral body morphology	Mõnikord (5–29%)
Absent collarbone	Mõnikord (5–29%)
Fused neck	Mõnikord (5–29%)
Muscle degeneration	Mõnikord (5–29%)
Permanent flexion of the finger or toe	Mõnikord (5–29%)
Short collarbone	Mõnikord (5–29%)
Vertebral fusion	Mõnikord (5–29%)
Vertebral segmentation defect	Mõnikord (5–29%)
Pectoralis major hypoplasia	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormal rotation of the kidneys	Väga sageli (80–99%)
Crossed fused renal ectopia	Väga sageli (80–99%)
Horseshoe kidney	Väga sageli (80–99%)
Absent/small kidney	Sageli (30–79%)
Bladder diverticulum	Sageli (30–79%)
Abnormal kidney location	Mõnikord (5–29%)
Vesicoureteral reflux	Mõnikord (5–29%)
Absent kidney	Pole registreeritud
Hydronephrosis	Pole registreeritud
Small kidneys	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
Abnormal heart rate	Mõnikord (5–29%)
Tetralogy of Fallot	Mõnikord (5–29%)
Patent ductus arteriosus	Harva (1–4%)
An opening in the wall separating the top two chambers of the heart	Pole registreeritud
Aneurysm	Pole registreeritud
Hole in heart wall separating two lower heart chambers	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Väga sageli (80–99%)
Conductive deafness	Sageli (30–79%)
Sensorineural hearing impairment	Sageli (30–79%)
Abnormally shaped ears	Mõnikord (5–29%)
Narrow ear canal	Mõnikord (5–29%)
Narrow internal auditory canal	Mõnikord (5–29%)
Slit-like opening of the exterior auditory meatus	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abnormal connection between rectum and vagina	Mõnikord (5–29%)
Absent anus	Mõnikord (5–29%)
Anorectal anomaly	Mõnikord (5–29%)
Enlarged colon lacking nerve cells	Mõnikord (5–29%)
Intestinal malrotation	Pole registreeritud
Narrowing of anal opening	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal fingerprints	Sageli (30–79%)
Irregular hyperpigmentation	Mõnikord (5–29%)
Patchy hypopigmentation of hair	Mõnikord (5–29%)
Patchy loss of skin color	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Epilepsy	Mõnikord (5–29%)
Global developmental delay	Mõnikord (5–29%)
Spina bifida occulta	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Low platelet count	Sageli (30–79%)
Elevated white blood count	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Severe short stature	Väga sageli (80–99%)
Growth delay as children	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 SALL4 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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