Požymiai

Su NGLY1 susiję požymiai

N-glycanase 1

Žmogaus fenotipo ontologija sieja 146 požymių su NGLY1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormality of movement	Visada
Decreased sensory nerve conduction velocity	Visada
Delayed CNS myelination	Visada
Elevated brain choline level by MRS	Visada
Gliosis	Visada
Global developmental delay	Visada
High myoinositol in brain by MRS	Visada
Intellectual disability	Visada
Motor regression	Visada
Pain insensitivity	Visada
Peripheral nerve disease	Visada
Reduced brain glutamine level by MRS	Visada
Reduced brain N-acetyl aspartate level by MRS	Visada
Restlessness	Visada
Degeneration of cerebrum	Labai dažnai (80–99%)
Hyperactive movements	Labai dažnai (80–99%)
Involuntary movements	Labai dažnai (80–99%)
Nerve damage causing decreased feeling and movement	Labai dažnai (80–99%)
Suck reflex	Labai dažnai (80–99%)
Abnormal myelination	Dažnai (30–79%)
Absent speech development	Dažnai (30–79%)
Choreoathetosis	Dažnai (30–79%)
Decreased CSF/serum albumin ratio	Dažnai (30–79%)
Decreased reflex response	Dažnai (30–79%)
Degeneration of cerebellum	Dažnai (30–79%)
Delayed myelination	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Generalized myoclonic seizure	Dažnai (30–79%)
Inability to walk	Dažnai (30–79%)
IQ less than 20	Dažnai (30–79%)
Loss of developmental milestones	Dažnai (30–79%)
Myoclonic seizure	Dažnai (30–79%)
Obstructive sleep apnea	Dažnai (30–79%)
Peripheral neuropathy	Dažnai (30–79%)
Poor speech	Dažnai (30–79%)
Action tremor	Kartais (5–29%)
Astasia	Kartais (5–29%)
Axonal loss	Kartais (5–29%)
Brief seizures with staring spells	Kartais (5–29%)
Central sleep apnea	Kartais (5–29%)
Chorea	Kartais (5–29%)
Delayed ability to sit	Kartais (5–29%)
Dystonia	Kartais (5–29%)
Focal emotional seizure with laughing	Kartais (5–29%)
Focal tonic seizure	Kartais (5–29%)
Infantile spasms	Kartais (5–29%)
Involuntary writhing movements in fingers, hands, toes, and feet	Kartais (5–29%)
Jerking	Kartais (5–29%)
Lingual dystonia	Kartais (5–29%)
Sudden loss of muscle tone	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
Lack of coordination of movement	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Chondroitin sulfate excretion in urine	Visada
Heparan sulfate excretion in urine	Visada
Keratan sulfate excretion in urine	Visada
3-Methylglutaconic aciduria	Dažnai (30–79%)
Decreased circulating LDL-C concentration	Dažnai (30–79%)
Decreased CSF 5-hydroxyindolacetic acid concentration	Dažnai (30–79%)
Decreased CSF albumin concentration	Dažnai (30–79%)
Decreased CSF biopterin level	Dažnai (30–79%)
Decreased CSF homovanillic acid concentration	Dažnai (30–79%)
Decreased CSF protein concentration	Dažnai (30–79%)
Elevated circulating alpha-fetoprotein concentration	Dažnai (30–79%)
High liver enzymes	Dažnai (30–79%)
Higher than normal levels of lactate in blood	Dažnai (30–79%)
Low blood triglyceride levels	Dažnai (30–79%)
Decreased resting energy expenditure	Kartais (5–29%)
Generalized aminoaciduria	Kartais (5–29%)
Increased blood alanine	Kartais (5–29%)
Microvesicular hepatic steatosis	Kartais (5–29%)
Fever	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Corneal opacity	Visada
Absence of tears in the eyes	Labai dažnai (80–99%)
Cross-eyed	Dažnai (30–79%)
Decreased tear secretion	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Corneal scarring	Kartais (5–29%)
Corneal ulceration	Kartais (5–29%)
Oculomotor apraxia	Kartais (5–29%)
Staring gaze	Kartais (5–29%)
Cone/cone-rod dystrophy	Retai (1–4 %)
Drooping of both upper eyelids	Retai (1–4 %)
New blood vessel formation in cornea	Retai (1–4 %)
Optic atrophy	Retai (1–4 %)
Optic disc pallor	Retai (1–4 %)
Outward facing eye ball	Retai (1–4 %)
Pigmentary retinopathy	Retai (1–4 %)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Decreased facial muscle tone	Visada
Abnormally small head	Dažnai (30–79%)
Development of small head that was not present at birth	Kartais (5–29%)
Midface retrusion	Kartais (5–29%)
Open mouth	Kartais (5–29%)
Pointed chin	Kartais (5–29%)
Small forehead	Kartais (5–29%)
Eyelids stay open	Retai (1–4 %)
Broad head shape	Neužfiksuota
Narrow face	Neužfiksuota
Nasal tip, upturned	Neužfiksuota
Sunken cheeks	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Visada
Increased susceptibility to fractures	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Fatigable weakness of speech muscles	Kartais (5–29%)
Limb contractures	Kartais (5–29%)
Low solidness and mass of the bones	Kartais (5–29%)
Poor head control	Kartais (5–29%)
Shoulder dislocation	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Short foot	Visada
Small hand	Labai dažnai (80–99%)
Intrinsic hand muscle atrophy	Dažnai (30–79%)
Single transverse palmar crease	Dažnai (30–79%)
Acromesomelia	Kartais (5–29%)
Coxa valga	Kartais (5–29%)
Dislocated hip since birth	Kartais (5–29%)
Increased bone density in the finger bone	Kartais (5–29%)
Shortening of the achilles tendon	Kartais (5–29%)
Tarsal sclerosis	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Impaired oropharyngeal swallow response	Visada
Oral-pharyngeal dysphagia	Visada
Impaired oral bolus formation	Labai dažnai (80–99%)
Chronic constipation	Dažnai (30–79%)
Enlarged liver	Dažnai (30–79%)
Hepatic fibrosis	Kartais (5–29%)
Micronodular cirrhosis	Kartais (5–29%)
Nodular regenerative hyperplasia of liver	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Hypofibrinogenemia	Kartais (5–29%)
Prolonged prothrombin time	Kartais (5–29%)
Reduced factor XI activity	Kartais (5–29%)
Reduced protein C activity	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Small for gestational age	Dažnai (30–79%)
Decreased body weight	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Dilation of Virchow-Robin spaces	Visada
Increased spleen size	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive sweating	Dažnai (30–79%)
Lack of sweating	Dažnai (30–79%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Low-set ears	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	Dažnai (30–79%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulties	Dažnai (30–79%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Pain	Neužfiksuota

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su NGLY1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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