특성

NGLY1 연관 특성

N-glycanase 1

인간 표현형 온톨로지가 NGLY1에 연결하는 특성은 146개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the nervous system

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

Laboratory abnormality

특성	나타나는 빈도
Chondroitin sulfate excretion in urine	항상
Heparan sulfate excretion in urine	항상
Keratan sulfate excretion in urine	항상
3-Methylglutaconic aciduria	자주 (30–79%)
Decreased circulating LDL-C concentration	자주 (30–79%)
Decreased CSF 5-hydroxyindolacetic acid concentration	자주 (30–79%)
Decreased CSF albumin concentration	자주 (30–79%)
Decreased CSF biopterin level	자주 (30–79%)
Decreased CSF homovanillic acid concentration	자주 (30–79%)
Decreased CSF protein concentration	자주 (30–79%)
Elevated circulating alpha-fetoprotein concentration	자주 (30–79%)
High liver enzymes	자주 (30–79%)
Higher than normal levels of lactate in blood	자주 (30–79%)
Low blood triglyceride levels	자주 (30–79%)
Decreased resting energy expenditure	가끔 (5–29%)
Generalized aminoaciduria	가끔 (5–29%)
Increased blood alanine	가끔 (5–29%)
Microvesicular hepatic steatosis	가끔 (5–29%)
Fever	기록되지 않음

Abnormality of the eye

특성	나타나는 빈도
Corneal opacity	항상
Absence of tears in the eyes	매우 자주 (80–99%)
Cross-eyed	자주 (30–79%)
Decreased tear secretion	자주 (30–79%)
Drooping upper eyelid	자주 (30–79%)
Wide-set eyes	자주 (30–79%)
Corneal scarring	가끔 (5–29%)
Corneal ulceration	가끔 (5–29%)
Oculomotor apraxia	가끔 (5–29%)
Staring gaze	가끔 (5–29%)
Cone/cone-rod dystrophy	드물게 (1–4%)
Drooping of both upper eyelids	드물게 (1–4%)
New blood vessel formation in cornea	드물게 (1–4%)
Optic atrophy	드물게 (1–4%)
Optic disc pallor	드물게 (1–4%)
Outward facing eye ball	드물게 (1–4%)
Pigmentary retinopathy	드물게 (1–4%)

Abnormality of head or neck

특성	나타나는 빈도
Decreased facial muscle tone	항상
Abnormally small head	자주 (30–79%)
Development of small head that was not present at birth	가끔 (5–29%)
Midface retrusion	가끔 (5–29%)
Open mouth	가끔 (5–29%)
Pointed chin	가끔 (5–29%)
Small forehead	가끔 (5–29%)
Eyelids stay open	드물게 (1–4%)
Broad head shape	기록되지 않음
Narrow face	기록되지 않음
Nasal tip, upturned	기록되지 않음
Sunken cheeks	기록되지 않음

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Low muscle tone	항상
Increased susceptibility to fractures	자주 (30–79%)
Osteoporosis	자주 (30–79%)
Scoliosis	자주 (30–79%)
Abnormal formation of the hip	가끔 (5–29%)
Delayed bone maturation	가끔 (5–29%)
Double-Jointed	가끔 (5–29%)
Fatigable weakness of speech muscles	가끔 (5–29%)
Limb contractures	가끔 (5–29%)
Low solidness and mass of the bones	가끔 (5–29%)
Poor head control	가끔 (5–29%)
Shoulder dislocation	가끔 (5–29%)

Abnormality of limbs

특성	나타나는 빈도
Short foot	항상
Small hand	매우 자주 (80–99%)
Intrinsic hand muscle atrophy	자주 (30–79%)
Single transverse palmar crease	자주 (30–79%)
Acromesomelia	가끔 (5–29%)
Coxa valga	가끔 (5–29%)
Dislocated hip since birth	가끔 (5–29%)
Increased bone density in the finger bone	가끔 (5–29%)
Shortening of the achilles tendon	가끔 (5–29%)
Tarsal sclerosis	가끔 (5–29%)

Abnormality of the digestive system

특성	나타나는 빈도
Impaired oropharyngeal swallow response	항상
Oral-pharyngeal dysphagia	항상
Impaired oral bolus formation	매우 자주 (80–99%)
Chronic constipation	자주 (30–79%)
Enlarged liver	자주 (30–79%)
Hepatic fibrosis	가끔 (5–29%)
Micronodular cirrhosis	가끔 (5–29%)
Nodular regenerative hyperplasia of liver	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

특성	나타나는 빈도
Hypofibrinogenemia	가끔 (5–29%)
Prolonged prothrombin time	가끔 (5–29%)
Reduced factor XI activity	가끔 (5–29%)
Reduced protein C activity	가끔 (5–29%)

Growth abnormality

특성	나타나는 빈도
Faltering weight	자주 (30–79%)
Small for gestational age	자주 (30–79%)
Decreased body weight	기록되지 않음

Abnormality of the cardiovascular system

특성	나타나는 빈도
Dilation of Virchow-Robin spaces	항상
Increased spleen size	가끔 (5–29%)

Abnormality of the integument

특성	나타나는 빈도
Excessive sweating	자주 (30–79%)
Lack of sweating	자주 (30–79%)

Abnormality of the ear

특성	나타나는 빈도
Low-set ears	가끔 (5–29%)

Abnormality of the immune system

특성	나타나는 빈도
Recurrent respiratory infections	자주 (30–79%)

Abnormality of the respiratory system

특성	나타나는 빈도
Breathing difficulties	자주 (30–79%)

Constitutional symptom

특성	나타나는 빈도
Pain	기록되지 않음

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: NGLY1에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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