Požymiai

Su KMT2D susiję požymiai

lysine methyltransferase 2D

Žmogaus fenotipo ontologija sieja 242 požymių su KMT2D, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

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

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Large earlobe	Visada
Prominent ear	Visada
Sensorineural hearing impairment	Visada
Small ears	Visada
Abnormality of the outer ear	Labai dažnai (80–99%)
Large ears	Labai dažnai (80–99%)
Aplasia of the semicircular canal	Dažnai (30–79%)
Chronic infections of the middle ear	Dažnai (30–79%)
Conductive deafness	Dažnai (30–79%)
Cupped ear	Dažnai (30–79%)
Hearing impairment	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)
Recurrent middle ear infection	Dažnai (30–79%)
Absent ear canal	Kartais (5–29%)
Bilateral conductive hearing impairment	Kartais (5–29%)
Cholesteatoma	Kartais (5–29%)
Ears rotated toward back of head	Kartais (5–29%)
Mixed hearing impairment	Kartais (5–29%)
Overfolded ears	Kartais (5–29%)
Progressive sensorineural hearing impairment	Kartais (5–29%)
Severe sensorineural hearing impairment	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Bilateral tonic-clonic seizure with focal onset	Visada
Difficulty articulating speech	Visada
Focal impaired awareness seizure	Visada
Lateral ventricle dilatation	Visada
Lobar holoprosencephaly	Visada
Delayed speech and language development	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Neurodevelopmental delay	Labai dažnai (80–99%)
Alobar holoprosencephaly	Dažnai (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Dažnai (30–79%)
Intellectual disability, mild	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Too much cerebrospinal fluid in the brain	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Autism spectrum disorder	Kartais (5–29%)
Communication delay	Kartais (5–29%)
EEG abnormality	Kartais (5–29%)
Epilepsy	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Bilateral renal hypoplasia	Visada
Renal failure	Visada
Undescended testes	Visada
Ureteropelvic junction obstruction	Visada
Urinary tract abnormalities	Dažnai (30–79%)
Abnormal kidney location	Kartais (5–29%)
Abnormal localisation of kidneys	Kartais (5–29%)
Absent/small kidney	Kartais (5–29%)
Crossed fused renal ectopia	Kartais (5–29%)
Double ureter	Kartais (5–29%)
Duplicated collecting system	Kartais (5–29%)
Hydrocele testis	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Multicystic kidney dysplasia	Kartais (5–29%)
Underdeveloped penis	Kartais (5–29%)
Short penis	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal cardiac septum morphology	Dažnai (30–79%)
Abnormality of the heart	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Increased blood pressure in blood vessels of lungs	Dažnai (30–79%)
Narrowing of aorta	Dažnai (30–79%)
Absent thymus	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%)
Increased spleen size	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Patent foramen ovale	Kartais (5–29%)
Right ventricular hypertrophy	Kartais (5–29%)
Interrupted aortic arch	Retai (1–4 %)
Narrowing of aortic valve	Retai (1–4 %)
Scimitar anomaly	Retai (1–4 %)
Underdeveloped left heart	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormally close eyes	Visada
Drooping of both upper eyelids	Visada
Blue outer white part of eyeball	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Marcus Gunn jaw winking synkinesis	Dažnai (30–79%)
Peters anomaly	Dažnai (30–79%)
Abnormally small eyeball	Kartais (5–29%)
Cat eye	Kartais (5–29%)
Cornea of eye less than 10mm in diameter	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Lazy eye	Kartais (5–29%)
Notched pupil	Kartais (5–29%)
Optic disc coloboma	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)
Optic nerve hypoplasia	Retai (1–4 %)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Curvature of finger	Visada
Short 5th finger	Visada
Short fingers or toes	Visada
Short middle bone of finger	Labai dažnai (80–99%)
Curvature of little finger	Dažnai (30–79%)
Prominent fingertip pads	Dažnai (30–79%)
Single transverse palmar crease	Dažnai (30–79%)
Broad big toe	Kartais (5–29%)
Curvature of digit	Kartais (5–29%)
Dislocated hip since birth	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Small hand	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Anteriorly placed anus	Visada
Feeding difficulties in infancy	Labai dažnai (80–99%)
Feeding difficulties	Dažnai (30–79%)
Absent anus	Kartais (5–29%)
Acid reflux	Kartais (5–29%)
Extra kidney	Kartais (5–29%)
Prolonged yellowing of skin in newborn	Kartais (5–29%)
Anorectal anomaly	Retai (1–4 %)
Anoperineal fistula	Neužfiksuota
Intestinal malrotation	Neužfiksuota
Malabsorption	Neužfiksuota
Narrowing of anal opening	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormal formation of the hip	Visada
Butterfly vertebrae	Visada
Thoracic scoliosis	Visada
Abnormal vertebral body morphology	Labai dažnai (80–99%)
Missing part of vertebrae	Labai dažnai (80–99%)
Vertebral clefting	Labai dažnai (80–99%)
Decreased muscle tone in infant	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
Joint dislocation	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Congenital diaphragmatic hernia	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormal fingerprints	Labai dažnai (80–99%)
Spinal dimple	Dažnai (30–79%)
Excessive hair growth	Kartais (5–29%)
Poor nail formation	Kartais (5–29%)
Small nail	Kartais (5–29%)
Sparse hair	Kartais (5–29%)
Pilomatrixoma	Retai (1–4 %)
Birthmark	Neužfiksuota
Excessive hairiness	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased parathyroid hormone secretion	Visada
Decreased response to growth hormone stimulation test	Visada
Underactive thyroid	Visada
Premature breast development	Dažnai (30–79%)
Underactive thyroid gland from birth	Dažnai (30–79%)
Early onset of puberty	Kartais (5–29%)
Reduced circulating growth hormone concentration	Kartais (5–29%)
Small thyroid gland	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay	Visada
Obesity	Visada
Prenatal growth deficiency	Visada
Growth delay as children	Labai dažnai (80–99%)
Severe short stature	Labai dažnai (80–99%)
Absent pubertal growth spurt	Dažnai (30–79%)
Faltering weight	Dažnai (30–79%)
Short stature	Dažnai (30–79%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Decreased memory B cell proportion	Labai dažnai (80–99%)
Decreased CD4+ memory T cell proportion	Dažnai (30–79%)
Autoimmune thrombocytopenia	Neužfiksuota
Hemolytic anemia	Neužfiksuota

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Unusual bronchiolitis	Visada
Recurrent infections	Dažnai (30–79%)
Recurrent respiratory infections	Kartais (5–29%)
Recurrent aspiration pneumonia	Neužfiksuota

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased circulating IgA concentration	Dažnai (30–79%)
Decreased circulating IgG2 concentration	Kartais (5–29%)
Decreased circulating total IgG concentration	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Low blood sugar	Kartais (5–29%)
Unconjugated hyperbilirubinemia	Kartais (5–29%)
Hyperinsulinemic hypoglycemia	Retai (1–4 %)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Dažnai (30–79%)
Echogenic fetal bowel	Kartais (5–29%)

Abnormality of the breast

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

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Subpleural honeycombing	Visada
Type II pneumocyte hyperplasia	Visada

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Weak cry	Visada

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 KMT2D susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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