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Tunnused

Geeniga B3GLCT seotud tunnused

beta 3-glucosyltransferase

Inimese fenotüübi ontoloogia seostab geeniga B3GLCT 133 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

TunnusKui sageli seda täheldatakse
Broad head shapeVäga sageli (80–99%)
Exaggerated cupid's bowVäga sageli (80–99%)
Little lower jawVäga sageli (80–99%)
Long faceVäga sageli (80–99%)
Long philtrumVäga sageli (80–99%)
Round faceVäga sageli (80–99%)
Short columellaVäga sageli (80–99%)
Short neckVäga sageli (80–99%)
Thin red part of the upper lipVäga sageli (80–99%)
Broad neckSageli (30–79%)
Cleft palateSageli (30–79%)
Cleft upper lipSageli (30–79%)
Frontal bossingSageli (30–79%)
Narrow eyelid openingSageli (30–79%)
Pit in front of the earSageli (30–79%)
Prominent foreheadSageli (30–79%)
Short opening between the eyelidsSageli (30–79%)
Skin tag in front of the earSageli (30–79%)
Upward slanting of the opening between the eyelidsSageli (30–79%)
Webbed neckSageli (30–79%)
Widely spaced teethSageli (30–79%)
Abnormally small headMõnikord (5–29%)
Big calvariaMõnikord (5–29%)
Both sided cleft lipMõnikord (5–29%)
Depressed nasal bridgeMõnikord (5–29%)
Nasal tip, upturnedMõnikord (5–29%)
Short noseMõnikord (5–29%)
Wide mouthMõnikord (5–29%)
Absence of upper lateral incisorPole registreeritud
Cone shaped front toothPole registreeritud
Decreased size of maxillaPole registreeritud
Decreased volume of lipPole registreeritud
Deformity of the skullPole registreeritud
Short lingual frenulumPole registreeritud
Wider-than-typical soft spot of skullPole registreeritud

Abnormality of limbs

TunnusKui sageli seda täheldatakse
Broad palmAlati
Short palmAlati
Curvature of little fingerVäga sageli (80–99%)
Short fingers or toesVäga sageli (80–99%)
Short footVäga sageli (80–99%)
Short toeVäga sageli (80–99%)
Smaller or shorter than typical limbsVäga sageli (80–99%)
Fused toesSageli (30–79%)
Disproportionately short upper portion of limbMõnikord (5–29%)
Attachment of thumb close to wristPole registreeritud
Broad footPole registreeritud
High-arched footPole registreeritud
Limited elbow movementPole registreeritud
Short long bone of footPole registreeritud
Shortened long bone of handPole registreeritud
Single transverse palmar creasePole registreeritud
Webbed fingers or toesPole registreeritud

Abnormality of the eye

TunnusKui sageli seda täheldatakse
Anterior chamber synechiaeVäga sageli (80–99%)
Corneal opacityVäga sageli (80–99%)
GlaucomaVäga sageli (80–99%)
Peters anomalyVäga sageli (80–99%)
Abnormality of visionSageli (30–79%)
Clouding of the lens of the eyeSageli (30–79%)
Cornea of eye less than 10mm in diameterSageli (30–79%)
Involuntary, rapid, rhythmic eye movementsSageli (30–79%)
Wide-set eyesSageli (30–79%)
Optic atrophyMõnikord (5–29%)
Visual impairmentMõnikord (5–29%)
Cat eyePole registreeritud
Close sightedPole registreeritud
Drooping upper eyelidPole registreeritud
Hole in the back of the eyePole registreeritud

Abnormality of the genitourinary system

TunnusKui sageli seda täheldatakse
HypospadiasSageli (30–79%)
Undescended testesSageli (30–79%)
Absent/small kidneyMõnikord (5–29%)
Double ureterMõnikord (5–29%)
HydronephrosisMõnikord (5–29%)
Multicystic kidney dysplasiaMõnikord (5–29%)
Small clitorisMõnikord (5–29%)
Small uterusMõnikord (5–29%)
Small kidneysPole registreeritud
Small labia majoraPole registreeritud
Underdeveloped vaginaPole registreeritud

Abnormality of the digestive system

TunnusKui sageli seda täheldatakse
Feeding difficulties in infancySageli (30–79%)
Absent anusMõnikord (5–29%)
Extra kidneyMõnikord (5–29%)
Inguinal herniaMõnikord (5–29%)
Intestinal fistulaMõnikord (5–29%)
Umbilical herniaMõnikord (5–29%)
Anteriorly placed anusPole registreeritud
Biliary tract abnormalityPole registreeritud
Bilobate gallbladderPole registreeritud
Gap between large left and right abdominal musclesPole registreeritud

Abnormality of the nervous system

TunnusKui sageli seda täheldatakse
Global developmental delayVäga sageli (80–99%)
Intellectual disabilityVäga sageli (80–99%)
Too much cerebrospinal fluid in the brainSageli (30–79%)
Aplasia/Hypoplasia of the corpus callosumMõnikord (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cellsMõnikord (5–29%)
Spina bifida occultaMõnikord (5–29%)
VentriculomegalyMõnikord (5–29%)
Agenesis of corpus callosumPole registreeritud
Degeneration of cerebrumPole registreeritud
EpilepsyPole registreeritud

Abnormality of the cardiovascular system

TunnusKui sageli seda täheldatakse
Abnormal cardiac septum morphologySageli (30–79%)
Abnormality of lung arterySageli (30–79%)
Narrowing of pulmonic valveSageli (30–79%)
Patent ductus arteriosusMõnikord (5–29%)
Abnormal pulmonary vein morphologyHarva (1–4%)
Bicuspid pulmonary valveHarva (1–4%)
Underdeveloped left heartHarva (1–4%)
An opening in the wall separating the top two chambers of the heartPole registreeritud
Hole in heart wall separating two lower heart chambersPole registreeritud

Abnormality of the ear

TunnusKui sageli seda täheldatakse
Cockleshell earSageli (30–79%)
Conductive deafnessMõnikord (5–29%)
Ears rotated toward back of headMõnikord (5–29%)
Hearing impairmentPole registreeritud
Low-set earsPole registreeritud
Narrow ear canalPole registreeritud
Prominent earPole registreeritud

Abnormality of the musculoskeletal system

TunnusKui sageli seda täheldatakse
Abnormal shape of pelvic girdle bonePole registreeritud
Double-JointedPole registreeritud
Funnel chestPole registreeritud
Missing part of vertebraePole registreeritud
ScoliosisPole registreeritud
Square pelvis bonePole registreeritud

Growth abnormality

TunnusKui sageli seda täheldatakse
Disproportionate short-limb short statureAlati
Prenatal growth deficiencyVäga sageli (80–99%)
Growth delay as childrenSageli (30–79%)
Short statureSageli (30–79%)
Birth length less than 3rd percentilePole registreeritud
Decreased body weightPole registreeritud

Abnormality of prenatal development or birth

TunnusKui sageli seda täheldatakse
Less than 10 fetal movements in 12 hoursSageli (30–79%)
High levels of amniotic fluidMõnikord (5–29%)

Abnormality of the endocrine system

TunnusKui sageli seda täheldatakse
Anterior hypopituitarismMõnikord (5–29%)
Underactive thyroid gland from birthMõnikord (5–29%)

Abnormality of the integument

TunnusKui sageli seda täheldatakse
Spinal dimpleMõnikord (5–29%)
Increased facial hair growthPole registreeritud

Abnormality of the breast

TunnusKui sageli seda täheldatakse
Wide-spaced nipplesMõnikord (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 B3GLCT seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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