Tunnused

Geeniga MAU2 seotud tunnused

MAU2 sister chromatid cohesion factor

Inimese fenotüübi ontoloogia seostab geeniga MAU2 187 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

MAU2

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

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

Abnormality of the eye

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

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Hydronephrosis	Alati
Primary amenorrhea	Alati
Undescended testes	Alati
Vesicoureteral reflux	Alati
Hypospadias	Sageli (30–79%)
Multicystic kidney dysplasia	Sageli (30–79%)
Small labia majora	Sageli (30–79%)
Underdeveloped penis	Sageli (30–79%)
Abnormality of the uterus	Mõnikord (5–29%)
Renal failure	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Funnel chest	Alati
Involuntary muscle stiffness, contraction, or spasm	Alati
Low muscle tone	Alati
Scoliosis	Alati
Delayed bone maturation	Väga sageli (80–99%)
Spasticity and rigidity of muscles	Väga sageli (80–99%)
Joint stiffness	Sageli (30–79%)
Abnormal formation of the hip	Mõnikord (5–29%)
Congenital diaphragmatic hernia	Mõnikord (5–29%)
Double-Jointed	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Dizziness	Alati
Absent ear canal	Väga sageli (80–99%)
Conductive deafness	Sageli (30–79%)
Ears rotated toward back of head	Sageli (30–79%)
Sensorineural hearing impairment	Sageli (30–79%)
Hearing impairment	Mõnikord (5–29%)
Large ears	Mõnikord (5–29%)
Low-set ears	Mõnikord (5–29%)
Prominent ear	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Extra kidney	Alati
Acid reflux	Väga sageli (80–99%)
Feeding difficulties in infancy	Sageli (30–79%)
Feeding difficulties	Mõnikord (5–29%)
Intestinal malrotation	Mõnikord (5–29%)
Pyloric stenosis	Mõnikord (5–29%)
Volvulus	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Prenatal growth deficiency	Alati
Short stature	Väga sageli (80–99%)
Faltering weight	Sageli (30–79%)
Severe growth delay in children	Sageli (30–79%)
Small for gestational age	Sageli (30–79%)
Truncal obesity	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Cutis marmorata	Sageli (30–79%)
Abnormal cardiovascular system morphology	Mõnikord (5–29%)
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
Aortic regurgitation	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Diabetes insipidus	Alati
Reduced circulating growth hormone concentration	Sageli (30–79%)
Delayed puberty	Mõnikord (5–29%)
Posterior pituitary agenesis	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Excessive hairiness	Alati
Excessive hairiness over body	Väga sageli (80–99%)
Hairy elbow	Sageli (30–79%)
Excessive hair growth	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Caesarean section	Alati
Premature birth	Sageli (30–79%)
Prenatal movement abnormality	Mõnikord (5–29%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Small nipples	Sageli (30–79%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Repeated pneumothoraces	Alati

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Fatigue	Alati

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 MAU2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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