Požymiai

Su ALG9 susiję požymiai

ALG9 alpha-1,2-mannosyltransferase

Žmogaus fenotipo ontologija sieja 137 požymių su ALG9, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Beaked nose	Visada
Little lower jaw	Visada
Receding chin	Visada
Short neck	Visada
Smooth philtrum	Visada
Thickened skin folds of neck	Visada
Underdeveloped tissue around nostril	Visada
Abnormally small head	Labai dažnai (80–99%)
Decreased bone formation of skull	Labai dažnai (80–99%)
Corners of eye widely separated	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Progressively abnormally small cranium	Dažnai (30–79%)
Wider-than-typical soft spot of skull	Dažnai (30–79%)
Bifid uvula	Kartais (5–29%)
Broad head shape	Kartais (5–29%)
Decreased depth of eye sockets	Kartais (5–29%)
Delayed cranial suture closure	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Low hairline at back of neck	Kartais (5–29%)
Low insertion of columella	Kartais (5–29%)
Prominent metopic ridge	Kartais (5–29%)
Short nose	Kartais (5–29%)
Small retruded chin	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)
Wide mouth	Kartais (5–29%)
Wry neck	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Heart shaped uterus	Visada
Cystic kidney disease	Labai dažnai (80–99%)
Decreased glomerular filtration rate	Labai dažnai (80–99%)
Polycystic kidney dysplasia	Labai dažnai (80–99%)
Renal failure	Labai dažnai (80–99%)
Chronic kidney disease	Dažnai (30–79%)
Stage 5 chronic kidney disease	Dažnai (30–79%)
Calcium oxalate nephrolithiasis	Kartais (5–29%)
Enlarged kidney	Kartais (5–29%)
Frequent urinary tract infections	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Pyelonephritis	Kartais (5–29%)
Reduced sperm motility	Kartais (5–29%)
Underdeveloped bladder	Kartais (5–29%)
Underdeveloped ovary	Kartais (5–29%)
Ureteral hypoplasia	Kartais (5–29%)
Uric acid stones	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Degeneration of cerebellum	Visada
Degeneration of cerebrum	Visada
Delayed CNS myelination	Visada
Epilepsy	Visada
Generalized brain degeneration	Visada
Global developmental delay	Visada
Intellectual disability	Labai dažnai (80–99%)
Delayed myelination	Kartais (5–29%)
Epileptic encephalopathy	Kartais (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Kartais (5–29%)
Inappropriate crying	Kartais (5–29%)
Increased reflexes	Kartais (5–29%)
Irritability	Kartais (5–29%)
Widened subarachnoid space	Kartais (5–29%)
Poor speech	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Increased spleen size	Visada
Abnormality of the heart	Dažnai (30–79%)
Fluid around heart	Dažnai (30–79%)
High blood pressure	Dažnai (30–79%)
Abnormal kidney artery	Kartais (5–29%)
Abnormal left ventricular outflow tract morphology	Kartais (5–29%)
Abnormal systemic arterial morphology	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Brain aneurysm	Kartais (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Mitral valve prolapse	Kartais (5–29%)
Right ventricular dilatation	Kartais (5–29%)
Tricuspid regurgitation	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormal skeletal development	Visada
Low muscle tone	Visada
Narrow greater sciatic notch	Visada
Short long bone	Visada
Abnormal bone maturation	Kartais (5–29%)
Broad ischia	Kartais (5–29%)
Congenital diaphragmatic hernia	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Hunched back	Kartais (5–29%)
Inability to make and keep healthy fat tissue	Kartais (5–29%)
Lower limb spasticity	Kartais (5–29%)
Poorly developed skeletal musculature	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Enlarged liver	Visada
Villous atrophy	Visada
Liver cysts	Labai dažnai (80–99%)
Omphalocele	Dažnai (30–79%)
Periportal fibrosis	Dažnai (30–79%)
Accumulation of fluid in the abdomen	Kartais (5–29%)
Acid reflux	Kartais (5–29%)
Diarrhea	Kartais (5–29%)
Pancreatic cysts	Kartais (5–29%)
Polycystic liver disease	Kartais (5–29%)
Vomiting	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Decreased circulating cholesterol level	Visada
Low albumin	Visada
Type I transferrin isoform profile	Visada
Elevated creatinine	Labai dažnai (80–99%)
Abnormal urinary electrolyte concentration	Dažnai (30–79%)
Albuminuria	Dažnai (30–79%)
Blood in urine	Dažnai (30–79%)
Fetal skin edema	Kartais (5–29%)
Hydrops fetalis	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Broad wide portion of long bone	Visada
Ulnar deviation of the hand	Visada
Hip dislocation	Dažnai (30–79%)
Club feet	Kartais (5–29%)
Disproportionately short upper portion of limb	Kartais (5–29%)
Flared wide portion of long bone	Kartais (5–29%)
Hitchhiker thumb	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Kartais (5–29%)
Less than 10 fetal movements in 12 hours	Kartais (5–29%)
Low levels of amniotic fluid	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Inverted nipples	Visada
Small nipples	Kartais (5–29%)
Wide-spaced nipples	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Visada
Low-set ears	Visada
Large fleshy ears	Dažnai (30–79%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Inward turning cross eyed	Visada
Bulging eye	Labai dažnai (80–99%)
Wide-set eyes	Dažnai (30–79%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hair growth	Kartais (5–29%)
Focal absence of scalp tissue	Kartais (5–29%)
Frontotemporal hypertrichosis	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Reduced antithrombin III activity	Visada
Reduced factor XI activity	Visada

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormal lung lobation	Visada
Poorly developed lungs	Visada

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Pituitary growth hormone cell adenoma	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Asthma	Visada

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Flank pain	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)

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 ALG9 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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