Požymiai

Su SMC3 susiję požymiai

structural maintenance of chromosomes 3

Žmogaus fenotipo ontologija sieja 142 požymių su SMC3, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

SMC3

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Curly eyelashes	Visada
Decreased volume of lip	Visada
Widely spaced teeth	Visada
Abnormally small head	Labai dažnai (80–99%)
Broad head shape	Labai dažnai (80–99%)
Bulbous nose	Labai dažnai (80–99%)
Delayed eruption of teeth	Labai dažnai (80–99%)
Depressed nasal bridge	Labai dažnai (80–99%)
Downturned corners of mouth	Labai dažnai (80–99%)
High palate	Labai dažnai (80–99%)
Highly arched eyebrow	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Long eyelashes	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Low frontal hairline	Labai dažnai (80–99%)
Low hairline at back of neck	Labai dažnai (80–99%)
Monobrow	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Short neck	Labai dažnai (80–99%)
Short nose	Labai dažnai (80–99%)
Thick eyebrow	Labai dažnai (80–99%)
Thin red part of the upper lip	Labai dažnai (80–99%)
Baggy eyes	Dažnai (30–79%)
Blocked tear duct	Dažnai (30–79%)
Broad nasal tip	Dažnai (30–79%)
Development of small head that was not present at birth	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Inflammation of eyelids	Dažnai (30–79%)
Narrow forehead	Dažnai (30–79%)
Receding chin	Dažnai (30–79%)
Short chin	Dažnai (30–79%)
Small head present at birth	Dažnai (30–79%)
Smooth philtrum	Dažnai (30–79%)
Asymmetry of the posterior head	Kartais (5–29%)
Blockage of the rear opening of the nasal cavity	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Decreased size of tooth	Kartais (5–29%)
Delayed closure of the soft spot on the skull	Kartais (5–29%)
Facial asymmetry	Kartais (5–29%)
Flat face	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
Hooded eyelid	Kartais (5–29%)
Increased nuchal translucency	Kartais (5–29%)
Laterally extended eyebrow	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Attachment of thumb close to wrist	Visada
Shortened 4th long bone of hand	Visada
Webbed 2nd and 3rd toes	Visada
Fused toes	Labai dažnai (80–99%)
Short foot	Labai dažnai (80–99%)
Shortened 1st long bone of hand	Labai dažnai (80–99%)
Small hand	Labai dažnai (80–99%)
Smaller or shorter than typical limbs	Labai dažnai (80–99%)
Bilateral single transverse palmar creases	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Elbow dislocation	Dažnai (30–79%)
Fused forearm bones	Dažnai (30–79%)
Limited elbow movement	Dažnai (30–79%)
Short 5th finger	Dažnai (30–79%)
Shortened 5th long bone of hand	Dažnai (30–79%)
Single transverse palmar crease	Dažnai (30–79%)
Abnormal morphology of ulna	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Oligodactyly	Kartais (5–29%)
Talipes	Kartais (5–29%)
Short fingers or toes	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Intellectual disability	Visada
Abnormally low-pitched voice	Labai dažnai (80–99%)
Intellectual disability, severe	Labai dažnai (80–99%)
Abnormal speech pattern	Dažnai (30–79%)
Anxiety	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Delayed motor skills	Dažnai (30–79%)
Difficulty sleeping	Dažnai (30–79%)
Obsessive compulsive behavior	Dažnai (30–79%)
Absent/small cerebellum	Kartais (5–29%)
Autism	Kartais (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Peripheral neuropathy	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
Cognitive impairment	Neužfiksuota
Poor speech	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Hypospadias	Dažnai (30–79%)
Multicystic kidney dysplasia	Dažnai (30–79%)
Small labia majora	Dažnai (30–79%)
Underdeveloped penis	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Vesicoureteral reflux	Dažnai (30–79%)
Abnormality of the uterus	Kartais (5–29%)
Hydroureter	Kartais (5–29%)
Primary amenorrhea	Kartais (5–29%)
Renal failure	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Patent foramen ovale	Visada
Cutis marmorata	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Aortic valve has two leaflets rather than three	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Narrowing of pulmonic valve	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Close sighted	Dažnai (30–79%)
Cornea of eye less than 10mm in diameter	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Phthisis bulbi	Dažnai (30–79%)
Clouding of the lens of the eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Glaucoma	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Absent ear canal	Labai dažnai (80–99%)
Conductive deafness	Dažnai (30–79%)
Ears rotated toward back of head	Dažnai (30–79%)
Hearing impairment	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)
Sensorineural hearing impairment	Dažnai (30–79%)
Large ears	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Delayed bone maturation	Labai dažnai (80–99%)
Spasticity and rigidity of muscles	Labai dažnai (80–99%)
Joint stiffness	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Congenital diaphragmatic hernia	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Low muscle tone	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Visada
Acid reflux	Labai dažnai (80–99%)
Feeding difficulties in infancy	Dažnai (30–79%)
Intestinal malrotation	Kartais (5–29%)
Pyloric stenosis	Kartais (5–29%)
Volvulus	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Visada
Faltering weight	Dažnai (30–79%)
Prenatal growth deficiency	Dažnai (30–79%)
Severe growth delay in children	Dažnai (30–79%)
Truncal obesity	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hairiness	Labai dažnai (80–99%)
Excessive hairiness over body	Labai dažnai (80–99%)
port-wine stain	Kartais (5–29%)
Thick hair	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Premature birth	Dažnai (30–79%)
Prenatal movement abnormality	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Small nipples	Dažnai (30–79%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Delayed puberty	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 SMC3 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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