Trăsături

Trăsături asociate cu NGLY1

N-glycanase 1

Human Phenotype Ontology asociază 146 trăsături cu NGLY1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

NGLY1

Abnormality of the nervous system

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

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Chondroitin sulfate excretion in urine	Întotdeauna
Heparan sulfate excretion in urine	Întotdeauna
Keratan sulfate excretion in urine	Întotdeauna
3-Methylglutaconic aciduria	Des (30–79%)
Decreased circulating LDL-C concentration	Des (30–79%)
Decreased CSF 5-hydroxyindolacetic acid concentration	Des (30–79%)
Decreased CSF albumin concentration	Des (30–79%)
Decreased CSF biopterin level	Des (30–79%)
Decreased CSF homovanillic acid concentration	Des (30–79%)
Decreased CSF protein concentration	Des (30–79%)
Elevated circulating alpha-fetoprotein concentration	Des (30–79%)
High liver enzymes	Des (30–79%)
Higher than normal levels of lactate in blood	Des (30–79%)
Low blood triglyceride levels	Des (30–79%)
Decreased resting energy expenditure	Uneori (5–29%)
Generalized aminoaciduria	Uneori (5–29%)
Increased blood alanine	Uneori (5–29%)
Microvesicular hepatic steatosis	Uneori (5–29%)
Fever	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Corneal opacity	Întotdeauna
Absence of tears in the eyes	Foarte des (80–99%)
Cross-eyed	Des (30–79%)
Decreased tear secretion	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Wide-set eyes	Des (30–79%)
Corneal scarring	Uneori (5–29%)
Corneal ulceration	Uneori (5–29%)
Oculomotor apraxia	Uneori (5–29%)
Staring gaze	Uneori (5–29%)
Cone/cone-rod dystrophy	Rar (1–4%)
Drooping of both upper eyelids	Rar (1–4%)
New blood vessel formation in cornea	Rar (1–4%)
Optic atrophy	Rar (1–4%)
Optic disc pallor	Rar (1–4%)
Outward facing eye ball	Rar (1–4%)
Pigmentary retinopathy	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Decreased facial muscle tone	Întotdeauna
Abnormally small head	Des (30–79%)
Development of small head that was not present at birth	Uneori (5–29%)
Midface retrusion	Uneori (5–29%)
Open mouth	Uneori (5–29%)
Pointed chin	Uneori (5–29%)
Small forehead	Uneori (5–29%)
Eyelids stay open	Rar (1–4%)
Broad head shape	Neînregistrat
Narrow face	Neînregistrat
Nasal tip, upturned	Neînregistrat
Sunken cheeks	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Increased susceptibility to fractures	Des (30–79%)
Osteoporosis	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Delayed bone maturation	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)
Fatigable weakness of speech muscles	Uneori (5–29%)
Limb contractures	Uneori (5–29%)
Low solidness and mass of the bones	Uneori (5–29%)
Poor head control	Uneori (5–29%)
Shoulder dislocation	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Short foot	Întotdeauna
Small hand	Foarte des (80–99%)
Intrinsic hand muscle atrophy	Des (30–79%)
Single transverse palmar crease	Des (30–79%)
Acromesomelia	Uneori (5–29%)
Coxa valga	Uneori (5–29%)
Dislocated hip since birth	Uneori (5–29%)
Increased bone density in the finger bone	Uneori (5–29%)
Shortening of the achilles tendon	Uneori (5–29%)
Tarsal sclerosis	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Impaired oropharyngeal swallow response	Întotdeauna
Oral-pharyngeal dysphagia	Întotdeauna
Impaired oral bolus formation	Foarte des (80–99%)
Chronic constipation	Des (30–79%)
Enlarged liver	Des (30–79%)
Hepatic fibrosis	Uneori (5–29%)
Micronodular cirrhosis	Uneori (5–29%)
Nodular regenerative hyperplasia of liver	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Hypofibrinogenemia	Uneori (5–29%)
Prolonged prothrombin time	Uneori (5–29%)
Reduced factor XI activity	Uneori (5–29%)
Reduced protein C activity	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Small for gestational age	Des (30–79%)
Decreased body weight	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Dilation of Virchow-Robin spaces	Întotdeauna
Increased spleen size	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive sweating	Des (30–79%)
Lack of sweating	Des (30–79%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Des (30–79%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Pain	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 NGLY1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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