Trăsături

Trăsături asociate cu KMT2D

lysine methyltransferase 2D

Human Phenotype Ontology asociază 242 trăsături cu KMT2D, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

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

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Large earlobe	Întotdeauna
Prominent ear	Întotdeauna
Sensorineural hearing impairment	Întotdeauna
Small ears	Întotdeauna
Abnormality of the outer ear	Foarte des (80–99%)
Large ears	Foarte des (80–99%)
Aplasia of the semicircular canal	Des (30–79%)
Chronic infections of the middle ear	Des (30–79%)
Conductive deafness	Des (30–79%)
Cupped ear	Des (30–79%)
Hearing impairment	Des (30–79%)
Low-set ears	Des (30–79%)
Recurrent middle ear infection	Des (30–79%)
Absent ear canal	Uneori (5–29%)
Bilateral conductive hearing impairment	Uneori (5–29%)
Cholesteatoma	Uneori (5–29%)
Ears rotated toward back of head	Uneori (5–29%)
Mixed hearing impairment	Uneori (5–29%)
Overfolded ears	Uneori (5–29%)
Progressive sensorineural hearing impairment	Uneori (5–29%)
Severe sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Bilateral tonic-clonic seizure with focal onset	Întotdeauna
Difficulty articulating speech	Întotdeauna
Focal impaired awareness seizure	Întotdeauna
Lateral ventricle dilatation	Întotdeauna
Lobar holoprosencephaly	Întotdeauna
Delayed speech and language development	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Neurodevelopmental delay	Foarte des (80–99%)
Alobar holoprosencephaly	Des (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
Motor delay	Des (30–79%)
Too much cerebrospinal fluid in the brain	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Autism spectrum disorder	Uneori (5–29%)
Communication delay	Uneori (5–29%)
EEG abnormality	Uneori (5–29%)
Epilepsy	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Bilateral renal hypoplasia	Întotdeauna
Renal failure	Întotdeauna
Undescended testes	Întotdeauna
Ureteropelvic junction obstruction	Întotdeauna
Urinary tract abnormalities	Des (30–79%)
Abnormal kidney location	Uneori (5–29%)
Abnormal localisation of kidneys	Uneori (5–29%)
Absent/small kidney	Uneori (5–29%)
Crossed fused renal ectopia	Uneori (5–29%)
Double ureter	Uneori (5–29%)
Duplicated collecting system	Uneori (5–29%)
Hydrocele testis	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Multicystic kidney dysplasia	Uneori (5–29%)
Underdeveloped penis	Uneori (5–29%)
Short penis	Neînregistrat

Abnormality of the cardiovascular system

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

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally close eyes	Întotdeauna
Drooping of both upper eyelids	Întotdeauna
Blue outer white part of eyeball	Des (30–79%)
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Marcus Gunn jaw winking synkinesis	Des (30–79%)
Peters anomaly	Des (30–79%)
Abnormally small eyeball	Uneori (5–29%)
Cat eye	Uneori (5–29%)
Cornea of eye less than 10mm in diameter	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Lazy eye	Uneori (5–29%)
Notched pupil	Uneori (5–29%)
Optic disc coloboma	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)
Optic nerve hypoplasia	Rar (1–4%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of finger	Întotdeauna
Short 5th finger	Întotdeauna
Short fingers or toes	Întotdeauna
Short middle bone of finger	Foarte des (80–99%)
Curvature of little finger	Des (30–79%)
Prominent fingertip pads	Des (30–79%)
Single transverse palmar crease	Des (30–79%)
Broad big toe	Uneori (5–29%)
Curvature of digit	Uneori (5–29%)
Dislocated hip since birth	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Small hand	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Anteriorly placed anus	Întotdeauna
Feeding difficulties in infancy	Foarte des (80–99%)
Feeding difficulties	Des (30–79%)
Absent anus	Uneori (5–29%)
Acid reflux	Uneori (5–29%)
Extra kidney	Uneori (5–29%)
Prolonged yellowing of skin in newborn	Uneori (5–29%)
Anorectal anomaly	Rar (1–4%)
Anoperineal fistula	Neînregistrat
Intestinal malrotation	Neînregistrat
Malabsorption	Neînregistrat
Narrowing of anal opening	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal formation of the hip	Întotdeauna
Butterfly vertebrae	Întotdeauna
Thoracic scoliosis	Întotdeauna
Abnormal vertebral body morphology	Foarte des (80–99%)
Missing part of vertebrae	Foarte des (80–99%)
Vertebral clefting	Foarte des (80–99%)
Decreased muscle tone in infant	Des (30–79%)
Double-Jointed	Des (30–79%)
Joint dislocation	Des (30–79%)
Low muscle tone	Des (30–79%)
Scoliosis	Des (30–79%)
Congenital diaphragmatic hernia	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal fingerprints	Foarte des (80–99%)
Spinal dimple	Des (30–79%)
Excessive hair growth	Uneori (5–29%)
Poor nail formation	Uneori (5–29%)
Small nail	Uneori (5–29%)
Sparse hair	Uneori (5–29%)
Pilomatrixoma	Rar (1–4%)
Birthmark	Neînregistrat
Excessive hairiness	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased parathyroid hormone secretion	Întotdeauna
Decreased response to growth hormone stimulation test	Întotdeauna
Underactive thyroid	Întotdeauna
Premature breast development	Des (30–79%)
Underactive thyroid gland from birth	Des (30–79%)
Early onset of puberty	Uneori (5–29%)
Reduced circulating growth hormone concentration	Uneori (5–29%)
Small thyroid gland	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Întotdeauna
Obesity	Întotdeauna
Prenatal growth deficiency	Întotdeauna
Growth delay as children	Foarte des (80–99%)
Severe short stature	Foarte des (80–99%)
Absent pubertal growth spurt	Des (30–79%)
Faltering weight	Des (30–79%)
Short stature	Des (30–79%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Decreased memory B cell proportion	Foarte des (80–99%)
Decreased CD4+ memory T cell proportion	Des (30–79%)
Autoimmune thrombocytopenia	Neînregistrat
Hemolytic anemia	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Unusual bronchiolitis	Întotdeauna
Recurrent infections	Des (30–79%)
Recurrent respiratory infections	Uneori (5–29%)
Recurrent aspiration pneumonia	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased circulating IgA concentration	Des (30–79%)
Decreased circulating IgG2 concentration	Uneori (5–29%)
Decreased circulating total IgG concentration	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Low blood sugar	Uneori (5–29%)
Unconjugated hyperbilirubinemia	Uneori (5–29%)
Hyperinsulinemic hypoglycemia	Rar (1–4%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Des (30–79%)
Echogenic fetal bowel	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Absent nipple	Des (30–79%)
Small nipples	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Subpleural honeycombing	Întotdeauna
Type II pneumocyte hyperplasia	Întotdeauna

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Weak cry	Întotdeauna

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu KMT2D și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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