특성

KMT2D 연관 특성

lysine methyltransferase 2D

인간 표현형 온톨로지가 KMT2D에 연결하는 특성은 242개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of head or neck

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

Abnormality of the ear

특성	나타나는 빈도
Large earlobe	항상
Prominent ear	항상
Sensorineural hearing impairment	항상
Small ears	항상
Abnormality of the outer ear	매우 자주 (80–99%)
Large ears	매우 자주 (80–99%)
Aplasia of the semicircular canal	자주 (30–79%)
Chronic infections of the middle ear	자주 (30–79%)
Conductive deafness	자주 (30–79%)
Cupped ear	자주 (30–79%)
Hearing impairment	자주 (30–79%)
Low-set ears	자주 (30–79%)
Recurrent middle ear infection	자주 (30–79%)
Absent ear canal	가끔 (5–29%)
Bilateral conductive hearing impairment	가끔 (5–29%)
Cholesteatoma	가끔 (5–29%)
Ears rotated toward back of head	가끔 (5–29%)
Mixed hearing impairment	가끔 (5–29%)
Overfolded ears	가끔 (5–29%)
Progressive sensorineural hearing impairment	가끔 (5–29%)
Severe sensorineural hearing impairment	가끔 (5–29%)

Abnormality of the nervous system

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

Abnormality of the genitourinary system

특성	나타나는 빈도
Bilateral renal hypoplasia	항상
Renal failure	항상
Undescended testes	항상
Ureteropelvic junction obstruction	항상
Urinary tract abnormalities	자주 (30–79%)
Abnormal kidney location	가끔 (5–29%)
Abnormal localisation of kidneys	가끔 (5–29%)
Absent/small kidney	가끔 (5–29%)
Crossed fused renal ectopia	가끔 (5–29%)
Double ureter	가끔 (5–29%)
Duplicated collecting system	가끔 (5–29%)
Hydrocele testis	가끔 (5–29%)
Hydronephrosis	가끔 (5–29%)
Hypospadias	가끔 (5–29%)
Multicystic kidney dysplasia	가끔 (5–29%)
Underdeveloped penis	가끔 (5–29%)
Short penis	기록되지 않음

Abnormality of the cardiovascular system

특성	나타나는 빈도
Abnormal cardiac septum morphology	자주 (30–79%)
Abnormality of the heart	자주 (30–79%)
An opening in the wall separating the top two chambers of the heart	자주 (30–79%)
Increased blood pressure in blood vessels of lungs	자주 (30–79%)
Narrowing of aorta	자주 (30–79%)
Absent thymus	가끔 (5–29%)
Aortic valve has two leaflets rather than three	가끔 (5–29%)
Hole in heart wall separating two lower heart chambers	가끔 (5–29%)
Increased spleen size	가끔 (5–29%)
Patent ductus arteriosus	가끔 (5–29%)
Patent foramen ovale	가끔 (5–29%)
Right ventricular hypertrophy	가끔 (5–29%)
Interrupted aortic arch	드물게 (1–4%)
Narrowing of aortic valve	드물게 (1–4%)
Scimitar anomaly	드물게 (1–4%)
Underdeveloped left heart	드물게 (1–4%)

Abnormality of the eye

특성	나타나는 빈도
Abnormally close eyes	항상
Drooping of both upper eyelids	항상
Blue outer white part of eyeball	자주 (30–79%)
Cross-eyed	자주 (30–79%)
Drooping upper eyelid	자주 (30–79%)
Marcus Gunn jaw winking synkinesis	자주 (30–79%)
Peters anomaly	자주 (30–79%)
Abnormally small eyeball	가끔 (5–29%)
Cat eye	가끔 (5–29%)
Cornea of eye less than 10mm in diameter	가끔 (5–29%)
Involuntary, rapid, rhythmic eye movements	가끔 (5–29%)
Lazy eye	가끔 (5–29%)
Notched pupil	가끔 (5–29%)
Optic disc coloboma	가끔 (5–29%)
Wide-set eyes	가끔 (5–29%)
Optic nerve hypoplasia	드물게 (1–4%)

Abnormality of limbs

특성	나타나는 빈도
Curvature of finger	항상
Short 5th finger	항상
Short fingers or toes	항상
Short middle bone of finger	매우 자주 (80–99%)
Curvature of little finger	자주 (30–79%)
Prominent fingertip pads	자주 (30–79%)
Single transverse palmar crease	자주 (30–79%)
Broad big toe	가끔 (5–29%)
Curvature of digit	가끔 (5–29%)
Dislocated hip since birth	가끔 (5–29%)
Hip dislocation	가끔 (5–29%)
Small hand	가끔 (5–29%)

Abnormality of the digestive system

특성	나타나는 빈도
Anteriorly placed anus	항상
Feeding difficulties in infancy	매우 자주 (80–99%)
Feeding difficulties	자주 (30–79%)
Absent anus	가끔 (5–29%)
Acid reflux	가끔 (5–29%)
Extra kidney	가끔 (5–29%)
Prolonged yellowing of skin in newborn	가끔 (5–29%)
Anorectal anomaly	드물게 (1–4%)
Anoperineal fistula	기록되지 않음
Intestinal malrotation	기록되지 않음
Malabsorption	기록되지 않음
Narrowing of anal opening	기록되지 않음

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Abnormal formation of the hip	항상
Butterfly vertebrae	항상
Thoracic scoliosis	항상
Abnormal vertebral body morphology	매우 자주 (80–99%)
Missing part of vertebrae	매우 자주 (80–99%)
Vertebral clefting	매우 자주 (80–99%)
Decreased muscle tone in infant	자주 (30–79%)
Double-Jointed	자주 (30–79%)
Joint dislocation	자주 (30–79%)
Low muscle tone	자주 (30–79%)
Scoliosis	자주 (30–79%)
Congenital diaphragmatic hernia	가끔 (5–29%)

Abnormality of the integument

특성	나타나는 빈도
Abnormal fingerprints	매우 자주 (80–99%)
Spinal dimple	자주 (30–79%)
Excessive hair growth	가끔 (5–29%)
Poor nail formation	가끔 (5–29%)
Small nail	가끔 (5–29%)
Sparse hair	가끔 (5–29%)
Pilomatrixoma	드물게 (1–4%)
Birthmark	기록되지 않음
Excessive hairiness	기록되지 않음

Abnormality of the endocrine system

특성	나타나는 빈도
Decreased parathyroid hormone secretion	항상
Decreased response to growth hormone stimulation test	항상
Underactive thyroid	항상
Premature breast development	자주 (30–79%)
Underactive thyroid gland from birth	자주 (30–79%)
Early onset of puberty	가끔 (5–29%)
Reduced circulating growth hormone concentration	가끔 (5–29%)
Small thyroid gland	가끔 (5–29%)

Growth abnormality

특성	나타나는 빈도
Growth delay	항상
Obesity	항상
Prenatal growth deficiency	항상
Growth delay as children	매우 자주 (80–99%)
Severe short stature	매우 자주 (80–99%)
Absent pubertal growth spurt	자주 (30–79%)
Faltering weight	자주 (30–79%)
Short stature	자주 (30–79%)

Abnormality of blood and blood-forming tissues

특성	나타나는 빈도
Decreased memory B cell proportion	매우 자주 (80–99%)
Decreased CD4+ memory T cell proportion	자주 (30–79%)
Autoimmune thrombocytopenia	기록되지 않음
Hemolytic anemia	기록되지 않음

Abnormality of the immune system

특성	나타나는 빈도
Unusual bronchiolitis	항상
Recurrent infections	자주 (30–79%)
Recurrent respiratory infections	가끔 (5–29%)
Recurrent aspiration pneumonia	기록되지 않음

Abnormal cellular phenotype

특성	나타나는 빈도
Decreased circulating IgA concentration	자주 (30–79%)
Decreased circulating IgG2 concentration	가끔 (5–29%)
Decreased circulating total IgG concentration	가끔 (5–29%)

Laboratory abnormality

특성	나타나는 빈도
Low blood sugar	가끔 (5–29%)
Unconjugated hyperbilirubinemia	가끔 (5–29%)
Hyperinsulinemic hypoglycemia	드물게 (1–4%)

Abnormality of prenatal development or birth

특성	나타나는 빈도
High levels of amniotic fluid	자주 (30–79%)
Echogenic fetal bowel	가끔 (5–29%)

Abnormality of the breast

특성	나타나는 빈도
Absent nipple	자주 (30–79%)
Small nipples	자주 (30–79%)

Abnormality of the respiratory system

특성	나타나는 빈도
Subpleural honeycombing	항상
Type II pneumocyte hyperplasia	항상

Abnormality of the voice

특성	나타나는 빈도
Weak cry	항상

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: KMT2D에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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