Özellikler

NGLY1 ile ilişkili özellikler

N-glycanase 1

Human Phenotype Ontology, NGLY1 ile ilişkili 146 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

NGLY1

Abnormality of the nervous system

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

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Chondroitin sulfate excretion in urine	Her zaman
Heparan sulfate excretion in urine	Her zaman
Keratan sulfate excretion in urine	Her zaman
3-Methylglutaconic aciduria	Sık (%30–79)
Decreased circulating LDL-C concentration	Sık (%30–79)
Decreased CSF 5-hydroxyindolacetic acid concentration	Sık (%30–79)
Decreased CSF albumin concentration	Sık (%30–79)
Decreased CSF biopterin level	Sık (%30–79)
Decreased CSF homovanillic acid concentration	Sık (%30–79)
Decreased CSF protein concentration	Sık (%30–79)
Elevated circulating alpha-fetoprotein concentration	Sık (%30–79)
High liver enzymes	Sık (%30–79)
Higher than normal levels of lactate in blood	Sık (%30–79)
Low blood triglyceride levels	Sık (%30–79)
Decreased resting energy expenditure	Bazen (%5–29)
Generalized aminoaciduria	Bazen (%5–29)
Increased blood alanine	Bazen (%5–29)
Microvesicular hepatic steatosis	Bazen (%5–29)
Fever	Kaydedilmedi

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Corneal opacity	Her zaman
Absence of tears in the eyes	Çok sık (%80–99)
Cross-eyed	Sık (%30–79)
Decreased tear secretion	Sık (%30–79)
Drooping upper eyelid	Sık (%30–79)
Wide-set eyes	Sık (%30–79)
Corneal scarring	Bazen (%5–29)
Corneal ulceration	Bazen (%5–29)
Oculomotor apraxia	Bazen (%5–29)
Staring gaze	Bazen (%5–29)
Cone/cone-rod dystrophy	Seyrek (%1–4)
Drooping of both upper eyelids	Seyrek (%1–4)
New blood vessel formation in cornea	Seyrek (%1–4)
Optic atrophy	Seyrek (%1–4)
Optic disc pallor	Seyrek (%1–4)
Outward facing eye ball	Seyrek (%1–4)
Pigmentary retinopathy	Seyrek (%1–4)

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Decreased facial muscle tone	Her zaman
Abnormally small head	Sık (%30–79)
Development of small head that was not present at birth	Bazen (%5–29)
Midface retrusion	Bazen (%5–29)
Open mouth	Bazen (%5–29)
Pointed chin	Bazen (%5–29)
Small forehead	Bazen (%5–29)
Eyelids stay open	Seyrek (%1–4)
Broad head shape	Kaydedilmedi
Narrow face	Kaydedilmedi
Nasal tip, upturned	Kaydedilmedi
Sunken cheeks	Kaydedilmedi

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Low muscle tone	Her zaman
Increased susceptibility to fractures	Sık (%30–79)
Osteoporosis	Sık (%30–79)
Scoliosis	Sık (%30–79)
Abnormal formation of the hip	Bazen (%5–29)
Delayed bone maturation	Bazen (%5–29)
Double-Jointed	Bazen (%5–29)
Fatigable weakness of speech muscles	Bazen (%5–29)
Limb contractures	Bazen (%5–29)
Low solidness and mass of the bones	Bazen (%5–29)
Poor head control	Bazen (%5–29)
Shoulder dislocation	Bazen (%5–29)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Short foot	Her zaman
Small hand	Çok sık (%80–99)
Intrinsic hand muscle atrophy	Sık (%30–79)
Single transverse palmar crease	Sık (%30–79)
Acromesomelia	Bazen (%5–29)
Coxa valga	Bazen (%5–29)
Dislocated hip since birth	Bazen (%5–29)
Increased bone density in the finger bone	Bazen (%5–29)
Shortening of the achilles tendon	Bazen (%5–29)
Tarsal sclerosis	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Impaired oropharyngeal swallow response	Her zaman
Oral-pharyngeal dysphagia	Her zaman
Impaired oral bolus formation	Çok sık (%80–99)
Chronic constipation	Sık (%30–79)
Enlarged liver	Sık (%30–79)
Hepatic fibrosis	Bazen (%5–29)
Micronodular cirrhosis	Bazen (%5–29)
Nodular regenerative hyperplasia of liver	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Özellik	Ne sıklıkla görüldüğü
Hypofibrinogenemia	Bazen (%5–29)
Prolonged prothrombin time	Bazen (%5–29)
Reduced factor XI activity	Bazen (%5–29)
Reduced protein C activity	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Sık (%30–79)
Small for gestational age	Sık (%30–79)
Decreased body weight	Kaydedilmedi

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Dilation of Virchow-Robin spaces	Her zaman
Increased spleen size	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Excessive sweating	Sık (%30–79)
Lack of sweating	Sık (%30–79)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Low-set ears	Bazen (%5–29)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Recurrent respiratory infections	Sık (%30–79)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Breathing difficulties	Sık (%30–79)

Constitutional symptom

Özellik	Ne sıklıkla görüldüğü
Pain	Kaydedilmedi

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: NGLY1 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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