Tunnused

Geeniga KMT2A seotud tunnused

lysine methyltransferase 2A

Inimese fenotüübi ontoloogia seostab geeniga KMT2A 102 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Bulbous nose	Alati
Monobrow	Alati
Depressed nasal tip	Väga sageli (80–99%)
Downward slanting of the opening between the eyelids	Väga sageli (80–99%)
Long eyelashes	Väga sageli (80–99%)
Thick eyebrow	Väga sageli (80–99%)
Wide nasal bridge	Väga sageli (80–99%)
Broad lateral eyebrow	Sageli (30–79%)
Broad nasal tip	Sageli (30–79%)
Broad opening between the eyelids	Sageli (30–79%)
Drooping brow	Sageli (30–79%)
Eversion of lateral third of lower eyelids	Sageli (30–79%)
Exaggerated cupid's bow	Sageli (30–79%)
Eye folds	Sageli (30–79%)
Facial asymmetry	Sageli (30–79%)
Failure of development of between one and six teeth	Sageli (30–79%)
High palate	Sageli (30–79%)
Highly arched eyebrow	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Long philtrum	Sageli (30–79%)
Low hairline at back of neck	Sageli (30–79%)
Narrow eyelid opening	Sageli (30–79%)
Prominent forehead	Sageli (30–79%)
Round face	Sageli (30–79%)
Short columella	Sageli (30–79%)
Short opening between the eyelids	Sageli (30–79%)
Thin red part of the upper lip	Sageli (30–79%)
Abnormally small head	Mõnikord (5–29%)
Corners of eye widely separated	Mõnikord (5–29%)
Flat face	Mõnikord (5–29%)
High forehead	Mõnikord (5–29%)
Long, narrow head	Mõnikord (5–29%)
Short nose	Mõnikord (5–29%)
Webbed neck	Mõnikord (5–29%)
Narrow opening between the eyelids	Pole registreeritud
Wide nose	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Delayed speech and language development	Alati
Global developmental delay	Alati
Intellectual disability	Alati
Aggressive behavior	Sageli (30–79%)
Anxiety	Sageli (30–79%)
Behavioral abnormality	Sageli (30–79%)
Delayed motor skills	Sageli (30–79%)
Difficulty sleeping	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Low frustration tolerance	Sageli (30–79%)
More active than typical	Sageli (30–79%)
Repetitive movements	Sageli (30–79%)
Short attention span	Sageli (30–79%)
Abnormal corpus callosum morphology	Mõnikord (5–29%)
Autism	Mõnikord (5–29%)
Psychomotor deterioration	Mõnikord (5–29%)
Wide based walk	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Dropped arches	Alati
Curvature of little finger	Väga sageli (80–99%)
Abnormality of the elbow	Sageli (30–79%)
Contracture of the distal interphalangeal joint of the fingers	Sageli (30–79%)
Short 5th finger	Sageli (30–79%)
Tapered finger	Sageli (30–79%)
Webbed 2nd and 3rd toes	Sageli (30–79%)
Abnormality of the hand	Mõnikord (5–29%)
Curvature of digit	Mõnikord (5–29%)
Disproportionately short upper portion of limb	Mõnikord (5–29%)
Long big toe	Mõnikord (5–29%)
Small hand	Mõnikord (5–29%)
Short finger bones	Pole registreeritud
Short middle bone of finger	Pole registreeritud
Short toe	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Advanced bone age	Sageli (30–79%)
Delayed bone maturation	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Absent/small ribs	Mõnikord (5–29%)
Double-Jointed	Mõnikord (5–29%)
Funnel chest	Mõnikord (5–29%)
Hyperextensibility at elbow	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Excessive hairiness over body	Alati
Generalized hypertrichosis	Alati
Prominent digit pad	Alati
Hairy elbow	Väga sageli (80–99%)
Thick hair	Väga sageli (80–99%)
Congenital, generalized hypertrichosis	Sageli (30–79%)
Spinal dimple	Sageli (30–79%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Constipation	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Acid reflux	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Blue outer white part of eyeball	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)
Drooping upper eyelid	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Growth delay as children	Alati
Short stature	Alati
Prenatal growth deficiency	Sageli (30–79%)
Faltering weight	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Low-set ears	Mõnikord (5–29%)
Recurrent middle ear infection	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Dilatation of renal calices	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased response to growth hormone stimulation test	Sageli (30–79%)

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 KMT2A seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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