AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu MED12
mediator complex subunit 12
Human Phenotype Ontology asociază 261 trăsături cu MED12, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of head or neck
Abnormality of the digestive system
Abnormality of the nervous system
Abnormality of limbs
| Trăsătură | Cât de frecvent apare |
|---|---|
| Broad big toe | Întotdeauna |
| Broad thumb | Întotdeauna |
| Broad toe | Des (30–79%) |
| Curvature of digit | Des (30–79%) |
| Dropped arches | Des (30–79%) |
| Finger joint hyperextensibility | Des (30–79%) |
| Limited elbow extension and supination | Des (30–79%) |
| Long slender fingers | Des (30–79%) |
| Abnormality of the thumb | Uneori (5–29%) |
| Curvature of index finger | Uneori (5–29%) |
| Finger syndactyly | Uneori (5–29%) |
| Long thumb | Uneori (5–29%) |
| Overlapping toe | Uneori (5–29%) |
| Permanent flexion of the finger | Uneori (5–29%) |
| Short fingers or toes | Uneori (5–29%) |
| Short thumb | Uneori (5–29%) |
| Single transverse palmar crease | Uneori (5–29%) |
| Ulnar deviation of the hand | Uneori (5–29%) |
| Joint contracture of the hand | Neînregistrat |
| Prominent fingertip pads | Neînregistrat |
| Radial deviation of finger | Neînregistrat |
| Split hand | Neînregistrat |
| Webbed fingers or toes | Neînregistrat |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Double-Jointed | Întotdeauna |
| Low muscle tone | Foarte des (80–99%) |
| Scoliosis | Foarte des (80–99%) |
| Abnormality of the sternum | Des (30–79%) |
| Decreased muscle tone in infant | Des (30–79%) |
| Funnel chest | Des (30–79%) |
| Generalized low muscle tone in neonate | Des (30–79%) |
| Hypermobility of all joints | Des (30–79%) |
| Involuntary muscle stiffness, contraction, or spasm | Des (30–79%) |
| Abnormal formation of the hip | Uneori (5–29%) |
| Congenital diaphragmatic hernia | Uneori (5–29%) |
| Narrow chest | Uneori (5–29%) |
| Osteoporosis | Uneori (5–29%) |
| Progressive flexion contractures | Uneori (5–29%) |
| Thoracolumbar scoliosis | Uneori (5–29%) |
| Excessive inward curvature of lower spine | Neînregistrat |
| Flexed joint that cannot be straightened | Neînregistrat |
| Generalized decreased muscle tone | Neînregistrat |
| Low muscle tone, in neonatal onset | Neînregistrat |
| Multiple joint contractures | Neînregistrat |
| Permanent flexion of the finger or toe | Neînregistrat |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| An opening in the wall separating the top two chambers of the heart | Des (30–79%) |
| Disease of the heart muscle | Des (30–79%) |
| Narrowing of aorta | Des (30–79%) |
| Patent ductus arteriosus | Des (30–79%) |
| Bulge in wall of large artery that carries blood away from heart | Uneori (5–29%) |
| Enlarged liver and spleen | Uneori (5–29%) |
| High blood pressure | Uneori (5–29%) |
| Hole in heart wall separating two lower heart chambers | Uneori (5–29%) |
| Hypersplenism | Uneori (5–29%) |
| Increased blood pressure in blood vessels of lungs | Uneori (5–29%) |
| Increased spleen size | Uneori (5–29%) |
| Mitral valve prolapse | Uneori (5–29%) |
| Narrowing of lung artery | Uneori (5–29%) |
| Partial anomalous pulmonary venous return | Uneori (5–29%) |
| Patent foramen ovale | Uneori (5–29%) |
| Portal hypertension | Uneori (5–29%) |
| Abnormality of the heart | Neînregistrat |
| Bulging of wall of large artery located above heart | Neînregistrat |
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Frequent urinary tract infections | Întotdeauna |
| Hydronephrosis | Întotdeauna |
| Hypospadias | Des (30–79%) |
| Large testis | Des (30–79%) |
| Short penis | Des (30–79%) |
| Undescended testes | Des (30–79%) |
| Vesicoureteral reflux | Des (30–79%) |
| Abnormally closed or absent vagina | Uneori (5–29%) |
| Ectopic ureteral orifice | Uneori (5–29%) |
| Hydroureter | Uneori (5–29%) |
| Pyelonephritis | Uneori (5–29%) |
| Renal failure | Uneori (5–29%) |
| Scrotum surrounds penis | Uneori (5–29%) |
| Underdeveloped bladder | Uneori (5–29%) |
| Smaller than typical growth of scrotum | Neînregistrat |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Microtia, first degree | Întotdeauna |
| Simple ear | Întotdeauna |
| Narrow ear canal | Foarte des (80–99%) |
| Abnormally shaped ears | Des (30–79%) |
| Cupped ear | Des (30–79%) |
| Ears rotated toward back of head | Des (30–79%) |
| Hearing impairment | Des (30–79%) |
| Low-set ears | Des (30–79%) |
| Mild hearing impairment | Des (30–79%) |
| Small ears | Des (30–79%) |
| Dizziness | Uneori (5–29%) |
| Prominent ear | Uneori (5–29%) |
| Sensorineural hearing impairment | Uneori (5–29%) |
| Abnormally folded helix | Neînregistrat |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Drooping upper eyelid | Întotdeauna |
| Pigmentary retinopathy | Întotdeauna |
| Abnormally small eyeball | Des (30–79%) |
| Cross-eyed | Des (30–79%) |
| Farsightedness | Des (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Des (30–79%) |
| Optic nerve hypoplasia | Des (30–79%) |
| Wide-set eyes | Des (30–79%) |
| Convergence excess esotropia | Uneori (5–29%) |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Frontal upsweep of hair | Întotdeauna |
| Itching | Des (30–79%) |
| Facial wrinkling | Uneori (5–29%) |
| Spinal dimple | Uneori (5–29%) |
| Birthmark | Neînregistrat |
| Fine hair | Neînregistrat |
| Skin tags | Neînregistrat |
| Sparse hair | Neînregistrat |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Disproportionate tall stature | Foarte des (80–99%) |
| Faltering weight | Des (30–79%) |
| Short stature | Des (30–79%) |
| Slender build | Des (30–79%) |
| Tall stature | Des (30–79%) |
| Decreased body weight | Uneori (5–29%) |
| Growth delay | Uneori (5–29%) |
Abnormality of the endocrine system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Small pituitary gland | Des (30–79%) |
| Decreased circulating insulin-like growth factor 1 concentration | Uneori (5–29%) |
| Impaired growth-hormone response to glucagon stimulation test | Uneori (5–29%) |
Abnormality of blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Low platelet count | Uneori (5–29%) |
| Vomiting blood | Uneori (5–29%) |
Abnormality of prenatal development or birth
| Trăsătură | Cât de frecvent apare |
|---|---|
| Premature birth | Des (30–79%) |
| Premature rupture of membranes | Uneori (5–29%) |
Abnormality of the voice
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the voice | Foarte des (80–99%) |
| Nasal speech | Foarte des (80–99%) |
Laboratory abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| High blood bilirubin levels | Uneori (5–29%) |
| High liver enzymes | Uneori (5–29%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu MED12 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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