Požymiai

Su MED12 susiję požymiai

mediator complex subunit 12

Žmogaus fenotipo ontologija sieja 261 požymį su MED12: tai požymis, pastebimas žmonėms, sergantiems viena iš šio geno retųjų ligų.

MED12

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Bulbous nose	Visada
Depressed nasal bridge	Visada
Eye folds	Visada
High palate	Visada
Little lower jaw	Visada
Long face	Visada
Narrow face	Visada
Narrow mouth	Visada
Narrow opening between the eyelids	Visada
Short philtrum	Visada
Sparse eyebrow	Visada
Triangular face	Visada
Wide nasal bridge	Visada
Big calvaria	Labai dažnai (80–99%)
Cleft of the mouth	Labai dažnai (80–99%)
Dental crowding	Labai dažnai (80–99%)
Downward slanting of the opening between the eyelids	Labai dažnai (80–99%)
High forehead	Labai dažnai (80–99%)
Pit in front of the ear	Labai dažnai (80–99%)
Prominent forehead	Labai dažnai (80–99%)
Skin tag in front of the ear	Labai dažnai (80–99%)
Asymmetry of the posterior head	Dažnai (30–79%)
Both sided cleft lip	Dažnai (30–79%)
Broad neck	Dažnai (30–79%)
Coarse facial features	Dažnai (30–79%)
Decreased size of maxilla	Dažnai (30–79%)
Decreased size of tooth	Dažnai (30–79%)
Drooling	Dažnai (30–79%)
Full lips	Dažnai (30–79%)
Fused teeth	Dažnai (30–79%)
Long philtrum	Dažnai (30–79%)
Narrow nose	Dažnai (30–79%)
Open mouth	Dažnai (30–79%)
Prominent back of the head	Dažnai (30–79%)
Prominent nasal bridge	Dažnai (30–79%)
Prominent nose	Dažnai (30–79%)
Relatively large head	Dažnai (30–79%)
Right and left cleft palate	Dažnai (30–79%)
Thick nasal alae	Dažnai (30–79%)
Wide mouth	Dažnai (30–79%)
Widely patent fontanelles and sutures	Dažnai (30–79%)
Zygomatic flattening	Dažnai (30–79%)
Abnormal dentition	Kartais (5–29%)
Blockage of the rear opening of the nasal cavity	Kartais (5–29%)
Broad head shape	Kartais (5–29%)
Cleft soft palate	Kartais (5–29%)
Deformity of the skull	Kartais (5–29%)
High frontal hairline	Kartais (5–29%)
Narrowing of the tear duct	Kartais (5–29%)
One sided cleft palate	Kartais (5–29%)
One sided cleft upper lip	Kartais (5–29%)
Short chin	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)
Widely spaced teeth	Kartais (5–29%)
Cleft palate	Neužfiksuota
Cleft upper lip	Neužfiksuota
Decreased volume of lip	Neužfiksuota
Deep philtrum	Neužfiksuota
Delayed closure of the soft spot on the skull	Neužfiksuota
Frontal bossing	Neužfiksuota
Full lower lip	Neužfiksuota
Long nose	Neužfiksuota
Narrow nasal bridge	Neužfiksuota
Narrow palate	Neužfiksuota
Postnatal macrocephaly	Neužfiksuota
Short neck	Neužfiksuota
Smooth philtrum	Neužfiksuota
Wider-than-typical soft spot of skull	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Decreased liver function	Visada
Intestinal malrotation	Visada
Intrahepatic bile duct dilatation	Visada
Jaundice	Visada
Absent anus	Labai dažnai (80–99%)
Feeding difficulties	Labai dažnai (80–99%)
Abdominal pain	Dažnai (30–79%)
Abnormal gallbladder structure	Dažnai (30–79%)
Abnormality of the biliary system	Dažnai (30–79%)
Abnormality of the large intestine	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Cyst of the ductus choledochus	Dažnai (30–79%)
Inguinal hernia	Dažnai (30–79%)
Malrotation of colon	Dažnai (30–79%)
Prolonged yellowing of skin in newborn	Dažnai (30–79%)
Pyloric stenosis	Dažnai (30–79%)
Slowed or blocked flow of bile from liver	Dažnai (30–79%)
Acid reflux	Kartais (5–29%)
Bile duct inflammation	Kartais (5–29%)
Bile duct proliferation	Kartais (5–29%)
Bladder exstrophy	Kartais (5–29%)
Celiac disease	Kartais (5–29%)
Enlarged liver	Kartais (5–29%)
Enlarged vein in esophagus	Kartais (5–29%)
Gastric varix	Kartais (5–29%)
Hepatic fibrosis	Kartais (5–29%)
Intrahepatic bile duct cysts	Kartais (5–29%)
Liver failure	Kartais (5–29%)
Meckel diverticulum	Kartais (5–29%)
Portal inflammation	Kartais (5–29%)
Scar tissue replaces healthy tissue in the liver	Kartais (5–29%)
Stomach hernia	Kartais (5–29%)
Umbilical hernia	Kartais (5–29%)
Vomiting	Kartais (5–29%)
Anteriorly placed anus	Neužfiksuota
Narrowing of anal opening	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Delayed speech and language development	Visada
Intellectual disability	Visada
Abnormal speech pattern	Labai dažnai (80–99%)
Behavioral abnormality	Labai dažnai (80–99%)
Abnormality of the cerebellum	Dažnai (30–79%)
Absent speech development	Dažnai (30–79%)
Agenesis of corpus callosum	Dažnai (30–79%)
Aplasia/Hypoplasia of the corpus callosum	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
IQ between 34 and 49	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Wide based walk	Dažnai (30–79%)
Abnormal social behavior	Kartais (5–29%)
Autism	Kartais (5–29%)
Hallucinations	Kartais (5–29%)
Irritability	Kartais (5–29%)
Obsessive compulsive behavior	Kartais (5–29%)
Psychosis	Kartais (5–29%)
Schizophrenia	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Aggressive behavior	Neužfiksuota
Can't control feelings	Neužfiksuota
Gray matter heterotopia	Neužfiksuota
High pitched voice	Neužfiksuota
Low frustration tolerance	Neužfiksuota
More active than typical	Neužfiksuota
Motor delay	Neužfiksuota
Partial agenesis of the corpus callosum	Neužfiksuota
Poor social interactions	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Broad big toe	Visada
Broad thumb	Visada
Broad toe	Dažnai (30–79%)
Curvature of digit	Dažnai (30–79%)
Dropped arches	Dažnai (30–79%)
Finger joint hyperextensibility	Dažnai (30–79%)
Limited elbow extension and supination	Dažnai (30–79%)
Long slender fingers	Dažnai (30–79%)
Abnormality of the thumb	Kartais (5–29%)
Curvature of index finger	Kartais (5–29%)
Finger syndactyly	Kartais (5–29%)
Long thumb	Kartais (5–29%)
Overlapping toe	Kartais (5–29%)
Permanent flexion of the finger	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Short thumb	Kartais (5–29%)
Single transverse palmar crease	Kartais (5–29%)
Ulnar deviation of the hand	Kartais (5–29%)
Joint contracture of the hand	Neužfiksuota
Prominent fingertip pads	Neužfiksuota
Radial deviation of finger	Neužfiksuota
Split hand	Neužfiksuota
Webbed fingers or toes	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Double-Jointed	Visada
Low muscle tone	Labai dažnai (80–99%)
Scoliosis	Labai dažnai (80–99%)
Abnormality of the sternum	Dažnai (30–79%)
Decreased muscle tone in infant	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Generalized low muscle tone in neonate	Dažnai (30–79%)
Hypermobility of all joints	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Congenital diaphragmatic hernia	Kartais (5–29%)
Narrow chest	Kartais (5–29%)
Osteoporosis	Kartais (5–29%)
Progressive flexion contractures	Kartais (5–29%)
Thoracolumbar scoliosis	Kartais (5–29%)
Excessive inward curvature of lower spine	Neužfiksuota
Flexed joint that cannot be straightened	Neužfiksuota
Generalized decreased muscle tone	Neužfiksuota
Low muscle tone, in neonatal onset	Neužfiksuota
Multiple joint contractures	Neužfiksuota
Permanent flexion of the finger or toe	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Disease of the heart muscle	Dažnai (30–79%)
Narrowing of aorta	Dažnai (30–79%)
Patent ductus arteriosus	Dažnai (30–79%)
Bulge in wall of large artery that carries blood away from heart	Kartais (5–29%)
Enlarged liver and spleen	Kartais (5–29%)
High blood pressure	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Hypersplenism	Kartais (5–29%)
Increased blood pressure in blood vessels of lungs	Kartais (5–29%)
Increased spleen size	Kartais (5–29%)
Mitral valve prolapse	Kartais (5–29%)
Narrowing of lung artery	Kartais (5–29%)
Partial anomalous pulmonary venous return	Kartais (5–29%)
Patent foramen ovale	Kartais (5–29%)
Portal hypertension	Kartais (5–29%)
Abnormality of the heart	Neužfiksuota
Bulging of wall of large artery located above heart	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Frequent urinary tract infections	Visada
Hydronephrosis	Visada
Hypospadias	Dažnai (30–79%)
Large testis	Dažnai (30–79%)
Short penis	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Vesicoureteral reflux	Dažnai (30–79%)
Abnormally closed or absent vagina	Kartais (5–29%)
Ectopic ureteral orifice	Kartais (5–29%)
Hydroureter	Kartais (5–29%)
Pyelonephritis	Kartais (5–29%)
Renal failure	Kartais (5–29%)
Scrotum surrounds penis	Kartais (5–29%)
Underdeveloped bladder	Kartais (5–29%)
Smaller than typical growth of scrotum	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Microtia, first degree	Visada
Simple ear	Visada
Narrow ear canal	Labai dažnai (80–99%)
Abnormally shaped ears	Dažnai (30–79%)
Cupped ear	Dažnai (30–79%)
Ears rotated toward back of head	Dažnai (30–79%)
Hearing impairment	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)
Mild hearing impairment	Dažnai (30–79%)
Small ears	Dažnai (30–79%)
Dizziness	Kartais (5–29%)
Prominent ear	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)
Abnormally folded helix	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Drooping upper eyelid	Visada
Pigmentary retinopathy	Visada
Abnormally small eyeball	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Farsightedness	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Optic nerve hypoplasia	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Convergence excess esotropia	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Frontal upsweep of hair	Visada
Itching	Dažnai (30–79%)
Facial wrinkling	Kartais (5–29%)
Spinal dimple	Kartais (5–29%)
Birthmark	Neužfiksuota
Fine hair	Neužfiksuota
Skin tags	Neužfiksuota
Sparse hair	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Disproportionate tall stature	Labai dažnai (80–99%)
Faltering weight	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Slender build	Dažnai (30–79%)
Tall stature	Dažnai (30–79%)
Decreased body weight	Kartais (5–29%)
Growth delay	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Small pituitary gland	Dažnai (30–79%)
Decreased circulating insulin-like growth factor 1 concentration	Kartais (5–29%)
Impaired growth-hormone response to glucagon stimulation test	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Low platelet count	Kartais (5–29%)
Vomiting blood	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Premature birth	Dažnai (30–79%)
Premature rupture of membranes	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Abnormality of the voice	Labai dažnai (80–99%)
Nasal speech	Labai dažnai (80–99%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High blood bilirubin levels	Kartais (5–29%)
High liver enzymes	Kartais (5–29%)

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.

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Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su MED12 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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