Požymiai

Su MAU2 susiję požymiai

MAU2 sister chromatid cohesion factor

Žmogaus fenotipo ontologija sieja 187 požymių su MAU2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

MAU2

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Decreased volume of lip	Visada
Delayed eruption of baby teeth	Visada
Delayed eruption of permanent teeth	Visada
Delayed loss of baby teeth	Visada
Hairy forehead	Visada
High palate	Visada
Little lower jaw	Visada
Low hairline at back of neck	Visada
Prominent nose	Visada
Recurrent sinus disease	Visada
Abnormally small head	Labai dažnai (80–99%)
Broad head shape	Labai dažnai (80–99%)
Curly eyelashes	Labai dažnai (80–99%)
Delayed eruption of teeth	Labai dažnai (80–99%)
Depressed nasal bridge	Labai dažnai (80–99%)
Downturned corners of mouth	Labai dažnai (80–99%)
Highly arched eyebrow	Labai dažnai (80–99%)
Long eyelashes	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Low frontal hairline	Labai dažnai (80–99%)
Monobrow	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Short neck	Labai dažnai (80–99%)
Short nose	Labai dažnai (80–99%)
Thick eyebrow	Labai dažnai (80–99%)
Widely spaced teeth	Labai dažnai (80–99%)
Inflammation of eyelids	Dažnai (30–79%)
Small head present at birth	Dažnai (30–79%)
Smooth philtrum	Dažnai (30–79%)
Thin red part of the upper lip	Dažnai (30–79%)
Triangular face	Dažnai (30–79%)
Blockage of the rear opening of the nasal cavity	Kartais (5–29%)
Both sided cleft lip	Kartais (5–29%)
Broad nasal tip	Kartais (5–29%)
Central cleft palate	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Coarse facial features	Kartais (5–29%)
Decreased size of tooth	Kartais (5–29%)
Empty sella turcica	Kartais (5–29%)
Flat face	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
Full lower lip	Kartais (5–29%)
Increased nuchal translucency	Kartais (5–29%)
Macrodontia of permanent maxillary central incisor	Kartais (5–29%)
Oval face	Kartais (5–29%)
Right and left cleft palate	Kartais (5–29%)
Round face	Kartais (5–29%)
Small face	Kartais (5–29%)
Thick nasal alae	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)
Wide mouth	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormality of balance	Visada
Anxiety	Visada
Ataxia	Visada
Attention deficit	Visada
Communication delay	Visada
Depression	Visada
Difficulty articulating speech	Visada
Difficulty performing quick and alternating movements	Visada
Disorder of involuntary muscle movements	Visada
Frequent temper tantrums	Visada
Jerking	Visada
More active than typical	Visada
Motor delay	Visada
Tremor	Visada
Abnormally low-pitched voice	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Intellectual disability, severe	Labai dažnai (80–99%)
Abnormal speech pattern	Dažnai (30–79%)
Delayed ability to sit	Dažnai (30–79%)
Delayed speech and language development	Dažnai (30–79%)
Difficulty sleeping	Dažnai (30–79%)
Intellectual disability, mild	Dažnai (30–79%)
Obsessive compulsive behavior	Dažnai (30–79%)
Specific learning disability	Dažnai (30–79%)
Absent/small cerebellum	Kartais (5–29%)
Autism	Kartais (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Kartais (5–29%)
Delayed ability to walk	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Fluid-filled cyst in spinal cord	Kartais (5–29%)
Intellectual disability, borderline	Kartais (5–29%)
IQ between 34 and 49	Kartais (5–29%)
Loss of developmental milestones	Kartais (5–29%)
Peripheral neuropathy	Kartais (5–29%)
Periventricular cysts	Kartais (5–29%)
Thin corpus callosum	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Inability to straighten knee	Visada
Webbed skin of 2nd-3rd toes	Visada
Attachment of thumb close to wrist	Labai dažnai (80–99%)
Fused toes	Labai dažnai (80–99%)
Short foot	Labai dažnai (80–99%)
Shortened 1st long bone of hand	Labai dažnai (80–99%)
Small hand	Labai dažnai (80–99%)
Smaller or shorter than typical limbs	Labai dažnai (80–99%)
Bilateral single transverse palmar creases	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Elbow dislocation	Dažnai (30–79%)
Fused forearm bones	Dažnai (30–79%)
Abnormal morphology of ulna	Kartais (5–29%)
Absent outermost little finger bone	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Oligodactyly	Kartais (5–29%)
Prominent hinge joints	Kartais (5–29%)
Short 5th finger	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Talipes	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormal saccadic eye movements	Visada
Close sighted	Dažnai (30–79%)
Cornea of eye less than 10mm in diameter	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Inward turning cross eyed	Dažnai (30–79%)
Phthisis bulbi	Dažnai (30–79%)
Abnormally small eyeball on both sides	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Farsightedness	Kartais (5–29%)
Glaucoma	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Oculomotor apraxia	Kartais (5–29%)
Optic disc coloboma	Kartais (5–29%)
Optic nerve aplasia	Kartais (5–29%)
Retinal dysplasia	Kartais (5–29%)
Septo-optic dysplasia	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Hydronephrosis	Visada
Primary amenorrhea	Visada
Undescended testes	Visada
Vesicoureteral reflux	Visada
Hypospadias	Dažnai (30–79%)
Multicystic kidney dysplasia	Dažnai (30–79%)
Small labia majora	Dažnai (30–79%)
Underdeveloped penis	Dažnai (30–79%)
Abnormality of the uterus	Kartais (5–29%)
Renal failure	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Funnel chest	Visada
Involuntary muscle stiffness, contraction, or spasm	Visada
Low muscle tone	Visada
Scoliosis	Visada
Delayed bone maturation	Labai dažnai (80–99%)
Spasticity and rigidity of muscles	Labai dažnai (80–99%)
Joint stiffness	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Congenital diaphragmatic hernia	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Dizziness	Visada
Absent ear canal	Labai dažnai (80–99%)
Conductive deafness	Dažnai (30–79%)
Ears rotated toward back of head	Dažnai (30–79%)
Sensorineural hearing impairment	Dažnai (30–79%)
Hearing impairment	Kartais (5–29%)
Large ears	Kartais (5–29%)
Low-set ears	Kartais (5–29%)
Prominent ear	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Extra kidney	Visada
Acid reflux	Labai dažnai (80–99%)
Feeding difficulties in infancy	Dažnai (30–79%)
Feeding difficulties	Kartais (5–29%)
Intestinal malrotation	Kartais (5–29%)
Pyloric stenosis	Kartais (5–29%)
Volvulus	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Prenatal growth deficiency	Visada
Short stature	Labai dažnai (80–99%)
Faltering weight	Dažnai (30–79%)
Severe growth delay in children	Dažnai (30–79%)
Small for gestational age	Dažnai (30–79%)
Truncal obesity	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Cutis marmorata	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Aortic regurgitation	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Diabetes insipidus	Visada
Reduced circulating growth hormone concentration	Dažnai (30–79%)
Delayed puberty	Kartais (5–29%)
Posterior pituitary agenesis	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hairiness	Visada
Excessive hairiness over body	Labai dažnai (80–99%)
Hairy elbow	Dažnai (30–79%)
Excessive hair growth	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Caesarean section	Visada
Premature birth	Dažnai (30–79%)
Prenatal movement abnormality	Kartais (5–29%)

Abnormality of the breast

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

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Repeated pneumothoraces	Visada

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	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 MAU2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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