Tunnused

Geeniga KMT2D seotud tunnused

lysine methyltransferase 2D

Inimese fenotüübi ontoloogia seostab geeniga KMT2D 242 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Blockage of the rear opening of the nasal cavity	Alati
Blocked tear duct	Alati
Corners of eye widely separated	Alati
Decreased volume of lip	Alati
Deformity of the skull	Alati
Dimple chin	Alati
Downward slanting of the opening between the eyelids	Alati
Failure of development of more than six teeth	Alati
Full lower lip	Alati
High, narrow palate	Alati
Limited hair on end of eyebrow	Alati
Midface retrusion	Alati
Nasal tip, upturned	Alati
Receding chin	Alati
Short nose	Alati
Smooth philtrum	Alati
Tented mouth	Alati
Wide nose	Alati
Broad opening between the eyelids	Väga sageli (80–99%)
Eversion of lateral third of lower eyelids	Väga sageli (80–99%)
High palate	Väga sageli (80–99%)
Highly arched eyebrow	Väga sageli (80–99%)
Long eyelashes	Väga sageli (80–99%)
Short columella	Väga sageli (80–99%)
Wide nasal bridge	Väga sageli (80–99%)
Abnormal dentition	Sageli (30–79%)
Abnormality of dental shape	Sageli (30–79%)
Abnormally small head	Sageli (30–79%)
Bifid uvula	Sageli (30–79%)
Bilateral blockage of the rear opening of the nasal cavity	Sageli (30–79%)
Branchial sinus	Sageli (30–79%)
Central cleft upper lip	Sageli (30–79%)
Cleft lip	Sageli (30–79%)
Cleft of the mouth	Sageli (30–79%)
Cleft palate	Sageli (30–79%)
Decreased size of tooth	Sageli (30–79%)
Delayed loss of baby teeth	Sageli (30–79%)
Depressed nasal bridge	Sageli (30–79%)
Depressed nasal tip	Sageli (30–79%)
Failure of development of between one and six teeth	Sageli (30–79%)
Flat nose	Sageli (30–79%)
High forehead	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Pit in front of the ear	Sageli (30–79%)
Proboscis	Sageli (30–79%)
Sparse eyebrow	Sageli (30–79%)
Thin red part of the upper lip	Sageli (30–79%)
Underdeveloped tissue around nostril	Sageli (30–79%)
Widely spaced teeth	Sageli (30–79%)
Absent tear duct	Mõnikord (5–29%)
Bad bite	Mõnikord (5–29%)
Bell's palsy	Mõnikord (5–29%)
Born with teeth	Mõnikord (5–29%)
Branchial cyst	Mõnikord (5–29%)
Broad philtrum	Mõnikord (5–29%)
Bulbous nose	Mõnikord (5–29%)
Dental cavities	Mõnikord (5–29%)
Downturned corners of mouth	Mõnikord (5–29%)
Eye folds	Mõnikord (5–29%)
Eyelids stay open	Mõnikord (5–29%)
Facial asymmetry	Mõnikord (5–29%)
Lip pit	Mõnikord (5–29%)
Long, narrow head	Mõnikord (5–29%)
Low hairline at back of neck	Mõnikord (5–29%)
Low hanging columella	Mõnikord (5–29%)
Narrow face	Mõnikord (5–29%)
Narrowing of the rear opening of the nasal cavity	Mõnikord (5–29%)
Prominent forehead	Mõnikord (5–29%)
Skin tag in front of the ear	Mõnikord (5–29%)
Tongue tied	Mõnikord (5–29%)
Prominent eyelashes	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Large earlobe	Alati
Prominent ear	Alati
Sensorineural hearing impairment	Alati
Small ears	Alati
Abnormality of the outer ear	Väga sageli (80–99%)
Large ears	Väga sageli (80–99%)
Aplasia of the semicircular canal	Sageli (30–79%)
Chronic infections of the middle ear	Sageli (30–79%)
Conductive deafness	Sageli (30–79%)
Cupped ear	Sageli (30–79%)
Hearing impairment	Sageli (30–79%)
Low-set ears	Sageli (30–79%)
Recurrent middle ear infection	Sageli (30–79%)
Absent ear canal	Mõnikord (5–29%)
Bilateral conductive hearing impairment	Mõnikord (5–29%)
Cholesteatoma	Mõnikord (5–29%)
Ears rotated toward back of head	Mõnikord (5–29%)
Mixed hearing impairment	Mõnikord (5–29%)
Overfolded ears	Mõnikord (5–29%)
Progressive sensorineural hearing impairment	Mõnikord (5–29%)
Severe sensorineural hearing impairment	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Bilateral tonic-clonic seizure with focal onset	Alati
Difficulty articulating speech	Alati
Focal impaired awareness seizure	Alati
Lateral ventricle dilatation	Alati
Lobar holoprosencephaly	Alati
Delayed speech and language development	Väga sageli (80–99%)
Global developmental delay	Väga sageli (80–99%)
Intellectual disability	Väga sageli (80–99%)
Neurodevelopmental delay	Väga sageli (80–99%)
Alobar holoprosencephaly	Sageli (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sageli (30–79%)
Intellectual disability, mild	Sageli (30–79%)
Motor delay	Sageli (30–79%)
Too much cerebrospinal fluid in the brain	Sageli (30–79%)
Ventriculomegaly	Sageli (30–79%)
Autism spectrum disorder	Mõnikord (5–29%)
Communication delay	Mõnikord (5–29%)
EEG abnormality	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Bilateral renal hypoplasia	Alati
Renal failure	Alati
Undescended testes	Alati
Ureteropelvic junction obstruction	Alati
Urinary tract abnormalities	Sageli (30–79%)
Abnormal kidney location	Mõnikord (5–29%)
Abnormal localisation of kidneys	Mõnikord (5–29%)
Absent/small kidney	Mõnikord (5–29%)
Crossed fused renal ectopia	Mõnikord (5–29%)
Double ureter	Mõnikord (5–29%)
Duplicated collecting system	Mõnikord (5–29%)
Hydrocele testis	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)
Hypospadias	Mõnikord (5–29%)
Multicystic kidney dysplasia	Mõnikord (5–29%)
Underdeveloped penis	Mõnikord (5–29%)
Short penis	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal cardiac septum morphology	Sageli (30–79%)
Abnormality of the heart	Sageli (30–79%)
An opening in the wall separating the top two chambers of the heart	Sageli (30–79%)
Increased blood pressure in blood vessels of lungs	Sageli (30–79%)
Narrowing of aorta	Sageli (30–79%)
Absent thymus	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%)
Increased spleen size	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)
Patent foramen ovale	Mõnikord (5–29%)
Right ventricular hypertrophy	Mõnikord (5–29%)
Interrupted aortic arch	Harva (1–4%)
Narrowing of aortic valve	Harva (1–4%)
Scimitar anomaly	Harva (1–4%)
Underdeveloped left heart	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormally close eyes	Alati
Drooping of both upper eyelids	Alati
Blue outer white part of eyeball	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Marcus Gunn jaw winking synkinesis	Sageli (30–79%)
Peters anomaly	Sageli (30–79%)
Abnormally small eyeball	Mõnikord (5–29%)
Cat eye	Mõnikord (5–29%)
Cornea of eye less than 10mm in diameter	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Lazy eye	Mõnikord (5–29%)
Notched pupil	Mõnikord (5–29%)
Optic disc coloboma	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)
Optic nerve hypoplasia	Harva (1–4%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Curvature of finger	Alati
Short 5th finger	Alati
Short fingers or toes	Alati
Short middle bone of finger	Väga sageli (80–99%)
Curvature of little finger	Sageli (30–79%)
Prominent fingertip pads	Sageli (30–79%)
Single transverse palmar crease	Sageli (30–79%)
Broad big toe	Mõnikord (5–29%)
Curvature of digit	Mõnikord (5–29%)
Dislocated hip since birth	Mõnikord (5–29%)
Hip dislocation	Mõnikord (5–29%)
Small hand	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Anteriorly placed anus	Alati
Feeding difficulties in infancy	Väga sageli (80–99%)
Feeding difficulties	Sageli (30–79%)
Absent anus	Mõnikord (5–29%)
Acid reflux	Mõnikord (5–29%)
Extra kidney	Mõnikord (5–29%)
Prolonged yellowing of skin in newborn	Mõnikord (5–29%)
Anorectal anomaly	Harva (1–4%)
Anoperineal fistula	Pole registreeritud
Intestinal malrotation	Pole registreeritud
Malabsorption	Pole registreeritud
Narrowing of anal opening	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormal formation of the hip	Alati
Butterfly vertebrae	Alati
Thoracic scoliosis	Alati
Abnormal vertebral body morphology	Väga sageli (80–99%)
Missing part of vertebrae	Väga sageli (80–99%)
Vertebral clefting	Väga sageli (80–99%)
Decreased muscle tone in infant	Sageli (30–79%)
Double-Jointed	Sageli (30–79%)
Joint dislocation	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Congenital diaphragmatic hernia	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal fingerprints	Väga sageli (80–99%)
Spinal dimple	Sageli (30–79%)
Excessive hair growth	Mõnikord (5–29%)
Poor nail formation	Mõnikord (5–29%)
Small nail	Mõnikord (5–29%)
Sparse hair	Mõnikord (5–29%)
Pilomatrixoma	Harva (1–4%)
Birthmark	Pole registreeritud
Excessive hairiness	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased parathyroid hormone secretion	Alati
Decreased response to growth hormone stimulation test	Alati
Underactive thyroid	Alati
Premature breast development	Sageli (30–79%)
Underactive thyroid gland from birth	Sageli (30–79%)
Early onset of puberty	Mõnikord (5–29%)
Reduced circulating growth hormone concentration	Mõnikord (5–29%)
Small thyroid gland	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Growth delay	Alati
Obesity	Alati
Prenatal growth deficiency	Alati
Growth delay as children	Väga sageli (80–99%)
Severe short stature	Väga sageli (80–99%)
Absent pubertal growth spurt	Sageli (30–79%)
Faltering weight	Sageli (30–79%)
Short stature	Sageli (30–79%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Decreased memory B cell proportion	Väga sageli (80–99%)
Decreased CD4+ memory T cell proportion	Sageli (30–79%)
Autoimmune thrombocytopenia	Pole registreeritud
Hemolytic anemia	Pole registreeritud

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Unusual bronchiolitis	Alati
Recurrent infections	Sageli (30–79%)
Recurrent respiratory infections	Mõnikord (5–29%)
Recurrent aspiration pneumonia	Pole registreeritud

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased circulating IgA concentration	Sageli (30–79%)
Decreased circulating IgG2 concentration	Mõnikord (5–29%)
Decreased circulating total IgG concentration	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Low blood sugar	Mõnikord (5–29%)
Unconjugated hyperbilirubinemia	Mõnikord (5–29%)
Hyperinsulinemic hypoglycemia	Harva (1–4%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
High levels of amniotic fluid	Sageli (30–79%)
Echogenic fetal bowel	Mõnikord (5–29%)

Abnormality of the breast

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

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Subpleural honeycombing	Alati
Type II pneumocyte hyperplasia	Alati

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Weak cry	Alati

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 KMT2D seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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