Tunnused

Geeniga SMC3 seotud tunnused

structural maintenance of chromosomes 3

Inimese fenotüübi ontoloogia seostab geeniga SMC3 142 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

SMC3

Abnormality of head or neck

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

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Attachment of thumb close to wrist	Alati
Shortened 4th long bone of hand	Alati
Webbed 2nd and 3rd toes	Alati
Fused toes	Väga sageli (80–99%)
Short foot	Väga sageli (80–99%)
Shortened 1st long bone of hand	Väga sageli (80–99%)
Small hand	Väga sageli (80–99%)
Smaller or shorter than typical limbs	Väga sageli (80–99%)
Bilateral single transverse palmar creases	Sageli (30–79%)
Curvature of little finger	Sageli (30–79%)
Elbow dislocation	Sageli (30–79%)
Fused forearm bones	Sageli (30–79%)
Limited elbow movement	Sageli (30–79%)
Short 5th finger	Sageli (30–79%)
Shortened 5th long bone of hand	Sageli (30–79%)
Single transverse palmar crease	Sageli (30–79%)
Abnormal morphology of ulna	Mõnikord (5–29%)
Hip dislocation	Mõnikord (5–29%)
Oligodactyly	Mõnikord (5–29%)
Talipes	Mõnikord (5–29%)
Short fingers or toes	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Global developmental delay	Alati
Intellectual disability	Alati
Abnormally low-pitched voice	Väga sageli (80–99%)
Intellectual disability, severe	Väga sageli (80–99%)
Abnormal speech pattern	Sageli (30–79%)
Anxiety	Sageli (30–79%)
Attention deficit	Sageli (30–79%)
Delayed motor skills	Sageli (30–79%)
Difficulty sleeping	Sageli (30–79%)
Obsessive compulsive behavior	Sageli (30–79%)
Absent/small cerebellum	Mõnikord (5–29%)
Autism	Mõnikord (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)
Peripheral neuropathy	Mõnikord (5–29%)
Ventriculomegaly	Mõnikord (5–29%)
Cognitive impairment	Pole registreeritud
Poor speech	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Hypospadias	Sageli (30–79%)
Multicystic kidney dysplasia	Sageli (30–79%)
Small labia majora	Sageli (30–79%)
Underdeveloped penis	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Vesicoureteral reflux	Sageli (30–79%)
Abnormality of the uterus	Mõnikord (5–29%)
Hydroureter	Mõnikord (5–29%)
Primary amenorrhea	Mõnikord (5–29%)
Renal failure	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Patent foramen ovale	Alati
Cutis marmorata	Sageli (30–79%)
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
Aortic valve has two leaflets rather than three	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)
Narrowing of pulmonic valve	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Close sighted	Sageli (30–79%)
Cornea of eye less than 10mm in diameter	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Phthisis bulbi	Sageli (30–79%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Glaucoma	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Absent ear canal	Väga sageli (80–99%)
Conductive deafness	Sageli (30–79%)
Ears rotated toward back of head	Sageli (30–79%)
Hearing impairment	Sageli (30–79%)
Low-set ears	Sageli (30–79%)
Sensorineural hearing impairment	Sageli (30–79%)
Large ears	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Delayed bone maturation	Väga sageli (80–99%)
Spasticity and rigidity of muscles	Väga sageli (80–99%)
Joint stiffness	Sageli (30–79%)
Abnormal formation of the hip	Mõnikord (5–29%)
Congenital diaphragmatic hernia	Mõnikord (5–29%)
Funnel chest	Mõnikord (5–29%)
Low muscle tone	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Alati
Acid reflux	Väga sageli (80–99%)
Feeding difficulties in infancy	Sageli (30–79%)
Intestinal malrotation	Mõnikord (5–29%)
Pyloric stenosis	Mõnikord (5–29%)
Volvulus	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Alati
Faltering weight	Sageli (30–79%)
Prenatal growth deficiency	Sageli (30–79%)
Severe growth delay in children	Sageli (30–79%)
Truncal obesity	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Excessive hairiness	Väga sageli (80–99%)
Excessive hairiness over body	Väga sageli (80–99%)
port-wine stain	Mõnikord (5–29%)
Thick hair	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Premature birth	Sageli (30–79%)
Prenatal movement abnormality	Mõnikord (5–29%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Small nipples	Sageli (30–79%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Delayed puberty	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 SMC3 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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