Özellikler

KMT2D ile ilişkili özellikler

lysine methyltransferase 2D

Human Phenotype Ontology, KMT2D ile ilişkili 242 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of head or neck

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

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Large earlobe	Her zaman
Prominent ear	Her zaman
Sensorineural hearing impairment	Her zaman
Small ears	Her zaman
Abnormality of the outer ear	Çok sık (%80–99)
Large ears	Çok sık (%80–99)
Aplasia of the semicircular canal	Sık (%30–79)
Chronic infections of the middle ear	Sık (%30–79)
Conductive deafness	Sık (%30–79)
Cupped ear	Sık (%30–79)
Hearing impairment	Sık (%30–79)
Low-set ears	Sık (%30–79)
Recurrent middle ear infection	Sık (%30–79)
Absent ear canal	Bazen (%5–29)
Bilateral conductive hearing impairment	Bazen (%5–29)
Cholesteatoma	Bazen (%5–29)
Ears rotated toward back of head	Bazen (%5–29)
Mixed hearing impairment	Bazen (%5–29)
Overfolded ears	Bazen (%5–29)
Progressive sensorineural hearing impairment	Bazen (%5–29)
Severe sensorineural hearing impairment	Bazen (%5–29)

Abnormality of the nervous system

Özellik	Ne sıklıkla görüldüğü
Bilateral tonic-clonic seizure with focal onset	Her zaman
Difficulty articulating speech	Her zaman
Focal impaired awareness seizure	Her zaman
Lateral ventricle dilatation	Her zaman
Lobar holoprosencephaly	Her zaman
Delayed speech and language development	Çok sık (%80–99)
Global developmental delay	Çok sık (%80–99)
Intellectual disability	Çok sık (%80–99)
Neurodevelopmental delay	Çok sık (%80–99)
Alobar holoprosencephaly	Sık (%30–79)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sık (%30–79)
Intellectual disability, mild	Sık (%30–79)
Motor delay	Sık (%30–79)
Too much cerebrospinal fluid in the brain	Sık (%30–79)
Ventriculomegaly	Sık (%30–79)
Autism spectrum disorder	Bazen (%5–29)
Communication delay	Bazen (%5–29)
EEG abnormality	Bazen (%5–29)
Epilepsy	Bazen (%5–29)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Bilateral renal hypoplasia	Her zaman
Renal failure	Her zaman
Undescended testes	Her zaman
Ureteropelvic junction obstruction	Her zaman
Urinary tract abnormalities	Sık (%30–79)
Abnormal kidney location	Bazen (%5–29)
Abnormal localisation of kidneys	Bazen (%5–29)
Absent/small kidney	Bazen (%5–29)
Crossed fused renal ectopia	Bazen (%5–29)
Double ureter	Bazen (%5–29)
Duplicated collecting system	Bazen (%5–29)
Hydrocele testis	Bazen (%5–29)
Hydronephrosis	Bazen (%5–29)
Hypospadias	Bazen (%5–29)
Multicystic kidney dysplasia	Bazen (%5–29)
Underdeveloped penis	Bazen (%5–29)
Short penis	Kaydedilmedi

Abnormality of the cardiovascular system

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

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Abnormally close eyes	Her zaman
Drooping of both upper eyelids	Her zaman
Blue outer white part of eyeball	Sık (%30–79)
Cross-eyed	Sık (%30–79)
Drooping upper eyelid	Sık (%30–79)
Marcus Gunn jaw winking synkinesis	Sık (%30–79)
Peters anomaly	Sık (%30–79)
Abnormally small eyeball	Bazen (%5–29)
Cat eye	Bazen (%5–29)
Cornea of eye less than 10mm in diameter	Bazen (%5–29)
Involuntary, rapid, rhythmic eye movements	Bazen (%5–29)
Lazy eye	Bazen (%5–29)
Notched pupil	Bazen (%5–29)
Optic disc coloboma	Bazen (%5–29)
Wide-set eyes	Bazen (%5–29)
Optic nerve hypoplasia	Seyrek (%1–4)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Curvature of finger	Her zaman
Short 5th finger	Her zaman
Short fingers or toes	Her zaman
Short middle bone of finger	Çok sık (%80–99)
Curvature of little finger	Sık (%30–79)
Prominent fingertip pads	Sık (%30–79)
Single transverse palmar crease	Sık (%30–79)
Broad big toe	Bazen (%5–29)
Curvature of digit	Bazen (%5–29)
Dislocated hip since birth	Bazen (%5–29)
Hip dislocation	Bazen (%5–29)
Small hand	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Anteriorly placed anus	Her zaman
Feeding difficulties in infancy	Çok sık (%80–99)
Feeding difficulties	Sık (%30–79)
Absent anus	Bazen (%5–29)
Acid reflux	Bazen (%5–29)
Extra kidney	Bazen (%5–29)
Prolonged yellowing of skin in newborn	Bazen (%5–29)
Anorectal anomaly	Seyrek (%1–4)
Anoperineal fistula	Kaydedilmedi
Intestinal malrotation	Kaydedilmedi
Malabsorption	Kaydedilmedi
Narrowing of anal opening	Kaydedilmedi

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Abnormal formation of the hip	Her zaman
Butterfly vertebrae	Her zaman
Thoracic scoliosis	Her zaman
Abnormal vertebral body morphology	Çok sık (%80–99)
Missing part of vertebrae	Çok sık (%80–99)
Vertebral clefting	Çok sık (%80–99)
Decreased muscle tone in infant	Sık (%30–79)
Double-Jointed	Sık (%30–79)
Joint dislocation	Sık (%30–79)
Low muscle tone	Sık (%30–79)
Scoliosis	Sık (%30–79)
Congenital diaphragmatic hernia	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Abnormal fingerprints	Çok sık (%80–99)
Spinal dimple	Sık (%30–79)
Excessive hair growth	Bazen (%5–29)
Poor nail formation	Bazen (%5–29)
Small nail	Bazen (%5–29)
Sparse hair	Bazen (%5–29)
Pilomatrixoma	Seyrek (%1–4)
Birthmark	Kaydedilmedi
Excessive hairiness	Kaydedilmedi

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Decreased parathyroid hormone secretion	Her zaman
Decreased response to growth hormone stimulation test	Her zaman
Underactive thyroid	Her zaman
Premature breast development	Sık (%30–79)
Underactive thyroid gland from birth	Sık (%30–79)
Early onset of puberty	Bazen (%5–29)
Reduced circulating growth hormone concentration	Bazen (%5–29)
Small thyroid gland	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Growth delay	Her zaman
Obesity	Her zaman
Prenatal growth deficiency	Her zaman
Growth delay as children	Çok sık (%80–99)
Severe short stature	Çok sık (%80–99)
Absent pubertal growth spurt	Sık (%30–79)
Faltering weight	Sık (%30–79)
Short stature	Sık (%30–79)

Abnormality of blood and blood-forming tissues

Özellik	Ne sıklıkla görüldüğü
Decreased memory B cell proportion	Çok sık (%80–99)
Decreased CD4+ memory T cell proportion	Sık (%30–79)
Autoimmune thrombocytopenia	Kaydedilmedi
Hemolytic anemia	Kaydedilmedi

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Unusual bronchiolitis	Her zaman
Recurrent infections	Sık (%30–79)
Recurrent respiratory infections	Bazen (%5–29)
Recurrent aspiration pneumonia	Kaydedilmedi

Abnormal cellular phenotype

Özellik	Ne sıklıkla görüldüğü
Decreased circulating IgA concentration	Sık (%30–79)
Decreased circulating IgG2 concentration	Bazen (%5–29)
Decreased circulating total IgG concentration	Bazen (%5–29)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Low blood sugar	Bazen (%5–29)
Unconjugated hyperbilirubinemia	Bazen (%5–29)
Hyperinsulinemic hypoglycemia	Seyrek (%1–4)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
High levels of amniotic fluid	Sık (%30–79)
Echogenic fetal bowel	Bazen (%5–29)

Abnormality of the breast

Özellik	Ne sıklıkla görüldüğü
Absent nipple	Sık (%30–79)
Small nipples	Sık (%30–79)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Subpleural honeycombing	Her zaman
Type II pneumocyte hyperplasia	Her zaman

Abnormality of the voice

Özellik	Ne sıklıkla görüldüğü
Weak cry	Her zaman

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: KMT2D ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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