Tunnused

Geeniga NDE1 seotud tunnused

nudE neurodevelopment protein 1

Inimese fenotüübi ontoloogia seostab geeniga NDE1 89 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

NDE1

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Agenesis of corpus callosum	Alati
Global developmental delay	Alati
Increased reflexes	Alati
Intellectual disability, severe	Alati
IQ less than 20	Alati
Poor eye contact	Alati
Self-mutilation	Alati
Small brainstem	Alati
Small cerebellum	Alati
Ventriculomegaly	Alati
4-layered lissencephaly	Väga sageli (80–99%)
Abnormal corpus striatum morphology	Väga sageli (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Väga sageli (80–99%)
Intellectual disability	Väga sageli (80–99%)
Microlissencephaly	Väga sageli (80–99%)
Simplified gyral pattern	Väga sageli (80–99%)
Abnormal dura mater morphology	Sageli (30–79%)
Babinski sign	Sageli (30–79%)
Colpocephaly	Sageli (30–79%)
Dysgenesis of the thalamus	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Fewer or absent grooves in brain	Sageli (30–79%)
Lethargy	Sageli (30–79%)
Profound global developmental delay	Sageli (30–79%)
Severe global developmental delay	Sageli (30–79%)
Small hippocampus	Sageli (30–79%)
Thalamic edema	Sageli (30–79%)
Abnormality of neuronal migration	Mõnikord (5–29%)
Degeneration of cerebellum	Mõnikord (5–29%)
Underdevelopment of part of brain called corpus callosum	Mõnikord (5–29%)
Fewer and broader ridges in brain	Pole registreeritud
Generalized myoclonic seizure	Pole registreeritud
Hydranencephaly	Pole registreeritud
Involuntary writhing movements in fingers, hands, toes, and feet	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally small head	Alati
Furrows in thickened skin on top of scalp	Alati
Prominent nasal bridge	Alati
Small head present at birth	Alati
Wide nasal bridge	Alati
Abnormal facial shape	Väga sageli (80–99%)
Abnormal fontanelle morphology	Sageli (30–79%)
Abnormal internal carotid artery morphology	Sageli (30–79%)
Abnormality of cranium	Sageli (30–79%)
Narrow forehead	Sageli (30–79%)
Prominent back of the head	Sageli (30–79%)
Sloping forehead	Sageli (30–79%)
Small forehead	Sageli (30–79%)
Small retruded chin	Sageli (30–79%)
Stiff neck	Sageli (30–79%)
Wide nose	Sageli (30–79%)
Long, narrow head	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Diffuse skeletal muscle wasting	Alati
Poor head control	Alati
Spastic tetraplegia	Alati
Abnormal muscle tone	Sageli (30–79%)
Opisthotonus	Sageli (30–79%)
Spastic diplegia	Sageli (30–79%)
Spasticity and rigidity of muscles	Sageli (30–79%)
Abnormal deposits of calcium in the brain	Mõnikord (5–29%)
Multiple joint contractures	Pole registreeritud
Muscle degeneration	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Blindness	Väga sageli (80–99%)
Wide-set eyes	Väga sageli (80–99%)
Abnormally close eyes	Sageli (30–79%)
Chorioretinal atrophy	Mõnikord (5–29%)
Optic nerve hypoplasia	Mõnikord (5–29%)
Retina issue	Mõnikord (5–29%)
Bulging eye	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormality of cerebral artery	Sageli (30–79%)
Dilatation of the ventricular cavity	Sageli (30–79%)
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
Patent foramen ovale	Mõnikord (5–29%)
Underdeveloped spleen	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Growth delay	Alati
Growth delay as children	Väga sageli (80–99%)
Prenatal growth deficiency	Väga sageli (80–99%)
Short stature	Sageli (30–79%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Inward turned thumb	Mõnikord (5–29%)
Rocker bottom foot	Mõnikord (5–29%)
Club feet	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Infantile sensorineural hearing impairment	Väga sageli (80–99%)
Low-set ears	Sageli (30–79%)
Large ears	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Alati
Poor swallowing	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Antenatal intracerebral hemorrhage	Sageli (30–79%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Atrophic pituitary gland	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Meningitis	Sageli (30–79%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Mõnikord (5–29%)

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 NDE1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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