Trăsături

Trăsături asociate cu ALG9

ALG9 alpha-1,2-mannosyltransferase

Human Phenotype Ontology asociază 137 trăsături cu ALG9, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

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

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Heart shaped uterus	Întotdeauna
Cystic kidney disease	Foarte des (80–99%)
Decreased glomerular filtration rate	Foarte des (80–99%)
Polycystic kidney dysplasia	Foarte des (80–99%)
Renal failure	Foarte des (80–99%)
Chronic kidney disease	Des (30–79%)
Stage 5 chronic kidney disease	Des (30–79%)
Calcium oxalate nephrolithiasis	Uneori (5–29%)
Enlarged kidney	Uneori (5–29%)
Frequent urinary tract infections	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Pyelonephritis	Uneori (5–29%)
Reduced sperm motility	Uneori (5–29%)
Underdeveloped bladder	Uneori (5–29%)
Underdeveloped ovary	Uneori (5–29%)
Ureteral hypoplasia	Uneori (5–29%)
Uric acid stones	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Degeneration of cerebellum	Întotdeauna
Degeneration of cerebrum	Întotdeauna
Delayed CNS myelination	Întotdeauna
Epilepsy	Întotdeauna
Generalized brain degeneration	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Foarte des (80–99%)
Delayed myelination	Uneori (5–29%)
Epileptic encephalopathy	Uneori (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Uneori (5–29%)
Inappropriate crying	Uneori (5–29%)
Increased reflexes	Uneori (5–29%)
Irritability	Uneori (5–29%)
Widened subarachnoid space	Uneori (5–29%)
Poor speech	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Increased spleen size	Întotdeauna
Abnormality of the heart	Des (30–79%)
Fluid around heart	Des (30–79%)
High blood pressure	Des (30–79%)
Abnormal kidney artery	Uneori (5–29%)
Abnormal left ventricular outflow tract morphology	Uneori (5–29%)
Abnormal systemic arterial morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Brain aneurysm	Uneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Mitral valve prolapse	Uneori (5–29%)
Right ventricular dilatation	Uneori (5–29%)
Tricuspid regurgitation	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal skeletal development	Întotdeauna
Low muscle tone	Întotdeauna
Narrow greater sciatic notch	Întotdeauna
Short long bone	Întotdeauna
Abnormal bone maturation	Uneori (5–29%)
Broad ischia	Uneori (5–29%)
Congenital diaphragmatic hernia	Uneori (5–29%)
Delayed bone maturation	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Inability to make and keep healthy fat tissue	Uneori (5–29%)
Lower limb spasticity	Uneori (5–29%)
Poorly developed skeletal musculature	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged liver	Întotdeauna
Villous atrophy	Întotdeauna
Liver cysts	Foarte des (80–99%)
Omphalocele	Des (30–79%)
Periportal fibrosis	Des (30–79%)
Accumulation of fluid in the abdomen	Uneori (5–29%)
Acid reflux	Uneori (5–29%)
Diarrhea	Uneori (5–29%)
Pancreatic cysts	Uneori (5–29%)
Polycystic liver disease	Uneori (5–29%)
Vomiting	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Decreased circulating cholesterol level	Întotdeauna
Low albumin	Întotdeauna
Type I transferrin isoform profile	Întotdeauna
Elevated creatinine	Foarte des (80–99%)
Abnormal urinary electrolyte concentration	Des (30–79%)
Albuminuria	Des (30–79%)
Blood in urine	Des (30–79%)
Fetal skin edema	Uneori (5–29%)
Hydrops fetalis	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Broad wide portion of long bone	Întotdeauna
Ulnar deviation of the hand	Întotdeauna
Hip dislocation	Des (30–79%)
Club feet	Uneori (5–29%)
Disproportionately short upper portion of limb	Uneori (5–29%)
Flared wide portion of long bone	Uneori (5–29%)
Hitchhiker thumb	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Uneori (5–29%)
Less than 10 fetal movements in 12 hours	Uneori (5–29%)
Low levels of amniotic fluid	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Inverted nipples	Întotdeauna
Small nipples	Uneori (5–29%)
Wide-spaced nipples	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Întotdeauna
Low-set ears	Întotdeauna
Large fleshy ears	Des (30–79%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Inward turning cross eyed	Întotdeauna
Bulging eye	Foarte des (80–99%)
Wide-set eyes	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hair growth	Uneori (5–29%)
Focal absence of scalp tissue	Uneori (5–29%)
Frontotemporal hypertrichosis	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Reduced antithrombin III activity	Întotdeauna
Reduced factor XI activity	Întotdeauna

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormal lung lobation	Întotdeauna
Poorly developed lungs	Întotdeauna

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Pituitary growth hormone cell adenoma	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Asthma	Întotdeauna

Constitutional symptom

Trăsătură	Cât de frecvent apare
Flank pain	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)

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 ALG9 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu