Trăsături

Trăsături asociate cu MED25

mediator complex subunit 25

Human Phenotype Ontology asociază 83 trăsături cu MED25, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Inability to walk	Foarte des (80–99%)
Severe global developmental delay	Foarte des (80–99%)
Absent speech development	Des (30–79%)
Cavum septum pellucidum	Des (30–79%)
Epilepsy	Des (30–79%)
Poor speech	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Abnormal gait	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Aggressive behavior	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Dilated third ventricle	Uneori (5–29%)
Diminished deep tendon reflex	Uneori (5–29%)
IQ between 34 and 49	Uneori (5–29%)
Lateral ventricle dilatation	Uneori (5–29%)
Absent reflexes	Neînregistrat
Decreased motor nerve conduction velocity	Neînregistrat
Decreased reflex response	Neînregistrat
Decreased sensation in extremities	Neînregistrat
Global developmental delay	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Des (30–79%)
Big lower jaw	Des (30–79%)
Cleft palate	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Drooping lower lip	Des (30–79%)
Exaggerated cupid's bow	Des (30–79%)
Eye folds	Des (30–79%)
High forehead	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Prominent nasal tip	Des (30–79%)
Short philtrum	Des (30–79%)
Sparse eyebrow	Des (30–79%)
Sparse scalp hair	Des (30–79%)
Tented mouth	Des (30–79%)
Grooved tongue	Uneori (5–29%)
High palate	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)
Receding chin	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Single transverse palmar crease	Des (30–79%)
Webbed 2nd and 3rd toes	Des (30–79%)
Broad outermost bone of the toe	Uneori (5–29%)
Contracture of the proximal interphalangeal joint of the 3rd finger	Uneori (5–29%)
Curvature of digit	Uneori (5–29%)
Displaced index finger	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
High-arched foot	Uneori (5–29%)
Inward turned thumb	Uneori (5–29%)
Overlapping fingers	Uneori (5–29%)
Overlapping toe	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Clouding of the lens of the eye	Des (30–79%)
Clouding of the lens of the eye at birth	Des (30–79%)
Cornea of eye less than 10mm in diameter	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Wide-set eyes	Des (30–79%)
Abnormally small eyeball	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Lazy eye	Uneori (5–29%)
Severe farsightedness	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
Hunched back	Uneori (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Distal muscle wasting	Neînregistrat
Weakness of outermost muscles	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%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)
Left superior vena cava draining to coronary sinus	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Constipation	Des (30–79%)
Acid reflux	Uneori (5–29%)
Gallstones	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Întotdeauna
Enlarged clitoris	Des (30–79%)
Hydronephrosis	Uneori (5–29%)
Male urethral meatus stenosis	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Uneori (5–29%)
Uplifted earlobe	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Port-wine stain on forehead	Întotdeauna
Sparse hair	Întotdeauna

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent pneumonia	Des (30–79%)

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 MED25 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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