Tunnused

Geeniga ESAM seotud tunnused

endothelial cell adhesion molecule

Inimese fenotüübi ontoloogia seostab geeniga ESAM 87 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

ESAM

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormal CNS myelination	Alati
Cavity within brain	Alati
Colpocephaly	Alati
Corpus callosum atrophy	Alati
Delayed ability to sit	Alati
Delayed speech and language development	Alati
Dilated third ventricle	Alati
Dystonia	Alati
Epilepsy	Alati
Gliosis	Alati
Grand mal seizures	Alati
Hydranencephaly	Alati
Hypsarrhythmia	Alati
Inability to walk	Alati
Increased reflexes	Alati
Lateral ventricle dilatation	Alati
More grooves in brain	Alati
Multifocal cerebral white matter abnormalities	Alati
Partial absence of the septum pellucidum	Alati
Periventricular cysts	Alati
Periventricular leukomalacia	Alati
Reduced cerebral white matter volume	Alati
Seizure affecting one half of brain	Alati
Severe global developmental delay	Alati
Too much cerebrospinal fluid in the brain	Väga sageli (80–99%)
Thin corpus callosum	Sageli (30–79%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Big lower jaw	Alati
Broad forehead	Alati
Bulbous nose	Alati
Corners of eye widely separated	Alati
Cystic hygroma	Alati
Drooping lower lip	Alati
Full cheeks	Alati
High palate	Alati
Highly arched eyebrow	Alati
Long eyelashes	Alati
Monobrow	Alati
Narrow forehead	Alati
Narrow palate	Alati
Nasal tip, upturned	Alati
Retinal arterial tortuosity	Alati
Small retruded chin	Alati
Smooth philtrum	Alati
Tented mouth	Alati
Triangular face	Alati
Upward slanting of the opening between the eyelids	Alati
Wide nasal bridge	Alati
Abnormally small head	Sageli (30–79%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormal deposits of calcium in the brain	Alati
Basal ganglia calcification	Alati
Funnel chest	Alati
Intracerebral periventricular calcifications	Alati
Involuntary muscle stiffness, contraction, or spasm	Alati
Low muscle tone	Alati
Poor head control	Alati
Spastic tetraparesis	Alati

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Cyst on spleen	Alati
Enlarged heart	Alati
Patent foramen ovale	Alati
Pulmonary artery atresia	Alati
Tricuspid regurgitation	Alati

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Bleeding in brain	Alati
Bleeding within the skull	Alati
Retinal bleeding	Alati
Vitreous hemorrhage	Alati

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Club feet	Alati
Hammertoe	Alati
Increased mobility in finger joint	Alati
Increased muscle tone of arm or leg	Alati

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cat eye	Alati
Involuntary, rapid, rhythmic eye movements	Alati
Lazy eye	Alati
Retinal detachment	Alati

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Floppy windpipe	Alati
Partial or complete collapse of part or entire lung	Alati
Poorly developed lungs	Alati
Respiratory function loss	Alati

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Alati
Hepatic sinusoidal dilatation	Alati
Pancreatic inflammation	Alati

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Decreased body weight	Alati
Short stature	Alati
Small for gestational age	Alati

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Brain swelling	Alati
Hydrops fetalis	Alati

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Alati

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Alati

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

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