Trăsături

Trăsături asociate cu ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

Human Phenotype Ontology asociază 119 trăsături cu ESCO2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

ESCO2

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Phocomelia	Întotdeauna
Abnormality of the upper limb	Foarte des (80–99%)
Absent/small thumb	Foarte des (80–99%)
Attachment of thumb close to wrist	Foarte des (80–99%)
Bowing of the long bones	Foarte des (80–99%)
Complete duplication of thumb bones	Foarte des (80–99%)
Curvature of little finger	Foarte des (80–99%)
Mesomelic arm shortening	Foarte des (80–99%)
Missing outer large bone of forearm	Foarte des (80–99%)
Radial deviation of finger	Foarte des (80–99%)
Underdeveloped outer large forearm bone	Foarte des (80–99%)
Abnormal shape of long bones of hand	Des (30–79%)
Abnormalities of the fingers	Des (30–79%)
Abnormality of the elbow	Des (30–79%)
Abnormality of the wrist	Des (30–79%)
Absent thumb	Des (30–79%)
Aplasia of the ulna	Des (30–79%)
Fused forearm bones	Des (30–79%)
Fused toes	Des (30–79%)
Hammertoe	Des (30–79%)
Short fingers or toes	Des (30–79%)
Short humerus	Des (30–79%)
Short thumb	Des (30–79%)
Underdeveloped inner large forearm bone	Des (30–79%)
Absent kneecap	Uneori (5–29%)
Bilateral single transverse palmar creases	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
Fusion of wrist bones	Uneori (5–29%)
Gap between 1st and 2nd toes	Uneori (5–29%)
Inability to straighten knee	Uneori (5–29%)
Wrist flexion contracture	Uneori (5–29%)
Abnormal wrist bones	Neînregistrat
Abnormalities of the toes	Neînregistrat
Abnormality of the radial head	Neînregistrat
Absent fingers	Neînregistrat
Ankle flexion contracture	Neînregistrat
Curvature of digit	Neînregistrat
Elbow flexion contracture	Neînregistrat
Limited elbow extension	Neînregistrat
Talipes equinovalgus	Neînregistrat
Tetraphocomelia	Neînregistrat
Webbed fingers or toes	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Underdeveloped tissue around nostril	Întotdeauna
Abnormally small head	Foarte des (80–99%)
Big maxilla	Foarte des (80–99%)
Broad head shape	Foarte des (80–99%)
Wide nose	Foarte des (80–99%)
Zygomatic flattening	Foarte des (80–99%)
Abnormality of the eyebrow	Des (30–79%)
Cleft of the mouth	Des (30–79%)
Cleft palate	Des (30–79%)
Cleft upper lip	Des (30–79%)
Flattened bony protrusion above eyes	Des (30–79%)
Highly arched eyebrow	Des (30–79%)
Little lower jaw	Des (30–79%)
Midface capillary hemangioma	Des (30–79%)
Dandy-Walker malformation	Uneori (5–29%)
Deformity of the skull	Uneori (5–29%)
High palate	Uneori (5–29%)
Short neck	Uneori (5–29%)
Cleft eyelid	Neînregistrat
Collapsed nostrils	Neînregistrat
Cystic hygroma	Neînregistrat
Decreased depth of eye sockets	Neînregistrat
Downward slanting of the opening between the eyelids	Neînregistrat
Frontoethmoidal encephalocele	Neînregistrat
Wide nasal bridge	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Foarte des (80–99%)
Bulging eye	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Abnormally small eyeball	Uneori (5–29%)
Blue outer white part of eyeball	Uneori (5–29%)
Corneal opacity	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Notched pupil	Neînregistrat
Opacification of the corneal stroma	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Enlarged clitoris	Des (30–79%)
Horseshoe kidney	Des (30–79%)
Hypospadias	Des (30–79%)
Long penis	Des (30–79%)
Undescended testes	Des (30–79%)
Polycystic kidney dysplasia	Uneori (5–29%)
Enlarged labia minora	Neînregistrat
Heart shaped uterus	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Des (30–79%)
Cavernous hemangioma of the face	Des (30–79%)
Accessory spleen	Neînregistrat
An opening in the wall separating the top two chambers of the heart	Neînregistrat
Hole in heart wall separating two lower heart chambers	Neînregistrat
Patent ductus arteriosus	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay as children	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)
Severe prenatal growth deficiency	Foarte des (80–99%)
Severe short stature	Foarte des (80–99%)
Short stature	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormally shaped ears	Des (30–79%)
Absent earlobe	Des (30–79%)
Ears rotated toward back of head	Neînregistrat
Low-set ears	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal vertebral morphology	Des (30–79%)
Abnormality of the ribs	Des (30–79%)
Scoliosis	Des (30–79%)
Progressive flexion contractures	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Des (30–79%)
Intellectual disability	Des (30–79%)
Cranial nerve paralysis	Neînregistrat
Too much cerebrospinal fluid in the brain	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Anteriorly placed anus	Uneori (5–29%)
Abdomen abnormality	Neînregistrat
Biliary tract abnormality	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Premature birth	Des (30–79%)
High levels of amniotic fluid	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Sparse hair	Foarte des (80–99%)
Birthmark	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Premature separation of centromeric heterochromatin	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Low platelet count	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased response to growth hormone stimulation test	Neînregistrat

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 ESCO2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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