Tunnused

Geeniga ESCO2 seotud tunnused

establishment of sister chromatid cohesion N-acetyltransferase 2

Inimese fenotüübi ontoloogia seostab geeniga ESCO2 119 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

ESCO2

Abnormality of limbs

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

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Underdeveloped tissue around nostril	Alati
Abnormally small head	Väga sageli (80–99%)
Big maxilla	Väga sageli (80–99%)
Broad head shape	Väga sageli (80–99%)
Wide nose	Väga sageli (80–99%)
Zygomatic flattening	Väga sageli (80–99%)
Abnormality of the eyebrow	Sageli (30–79%)
Cleft of the mouth	Sageli (30–79%)
Cleft palate	Sageli (30–79%)
Cleft upper lip	Sageli (30–79%)
Flattened bony protrusion above eyes	Sageli (30–79%)
Highly arched eyebrow	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Midface capillary hemangioma	Sageli (30–79%)
Dandy-Walker malformation	Mõnikord (5–29%)
Deformity of the skull	Mõnikord (5–29%)
High palate	Mõnikord (5–29%)
Short neck	Mõnikord (5–29%)
Cleft eyelid	Pole registreeritud
Collapsed nostrils	Pole registreeritud
Cystic hygroma	Pole registreeritud
Decreased depth of eye sockets	Pole registreeritud
Downward slanting of the opening between the eyelids	Pole registreeritud
Frontoethmoidal encephalocele	Pole registreeritud
Wide nasal bridge	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Wide-set eyes	Väga sageli (80–99%)
Bulging eye	Sageli (30–79%)
Clouding of the lens of the eye	Sageli (30–79%)
Abnormally small eyeball	Mõnikord (5–29%)
Blue outer white part of eyeball	Mõnikord (5–29%)
Corneal opacity	Mõnikord (5–29%)
Drooping upper eyelid	Mõnikord (5–29%)
Glaucoma	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Notched pupil	Pole registreeritud
Opacification of the corneal stroma	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Enlarged clitoris	Sageli (30–79%)
Horseshoe kidney	Sageli (30–79%)
Hypospadias	Sageli (30–79%)
Long penis	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Polycystic kidney dysplasia	Mõnikord (5–29%)
Enlarged labia minora	Pole registreeritud
Heart shaped uterus	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal cardiovascular system morphology	Sageli (30–79%)
Cavernous hemangioma of the face	Sageli (30–79%)
Accessory spleen	Pole registreeritud
An opening in the wall separating the top two chambers of the heart	Pole registreeritud
Hole in heart wall separating two lower heart chambers	Pole registreeritud
Patent ductus arteriosus	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Growth delay as children	Väga sageli (80–99%)
Prenatal growth deficiency	Väga sageli (80–99%)
Severe prenatal growth deficiency	Väga sageli (80–99%)
Severe short stature	Väga sageli (80–99%)
Short stature	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Abnormally shaped ears	Sageli (30–79%)
Absent earlobe	Sageli (30–79%)
Ears rotated toward back of head	Pole registreeritud
Low-set ears	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormal vertebral morphology	Sageli (30–79%)
Abnormality of the ribs	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Progressive flexion contractures	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Global developmental delay	Sageli (30–79%)
Intellectual disability	Sageli (30–79%)
Cranial nerve paralysis	Pole registreeritud
Too much cerebrospinal fluid in the brain	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Anteriorly placed anus	Mõnikord (5–29%)
Abdomen abnormality	Pole registreeritud
Biliary tract abnormality	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Premature birth	Sageli (30–79%)
High levels of amniotic fluid	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Sparse hair	Väga sageli (80–99%)
Birthmark	Pole registreeritud

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Premature separation of centromeric heterochromatin	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Low platelet count	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased response to growth hormone stimulation test	Pole registreeritud

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 ESCO2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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