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Tunnused
Geeniga ALG9 seotud tunnused
ALG9 alpha-1,2-mannosyltransferase
Inimese fenotüübi ontoloogia seostab geeniga ALG9 137 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Beaked nose | Alati |
| Little lower jaw | Alati |
| Receding chin | Alati |
| Short neck | Alati |
| Smooth philtrum | Alati |
| Thickened skin folds of neck | Alati |
| Underdeveloped tissue around nostril | Alati |
| Abnormally small head | Väga sageli (80–99%) |
| Decreased bone formation of skull | Väga sageli (80–99%) |
| Corners of eye widely separated | Sageli (30–79%) |
| Eye folds | Sageli (30–79%) |
| Progressively abnormally small cranium | Sageli (30–79%) |
| Wider-than-typical soft spot of skull | Sageli (30–79%) |
| Bifid uvula | Mõnikord (5–29%) |
| Broad head shape | Mõnikord (5–29%) |
| Decreased depth of eye sockets | Mõnikord (5–29%) |
| Delayed cranial suture closure | Mõnikord (5–29%) |
| Depressed nasal bridge | Mõnikord (5–29%) |
| Frontal bossing | Mõnikord (5–29%) |
| Long philtrum | Mõnikord (5–29%) |
| Low hairline at back of neck | Mõnikord (5–29%) |
| Low insertion of columella | Mõnikord (5–29%) |
| Prominent metopic ridge | Mõnikord (5–29%) |
| Short nose | Mõnikord (5–29%) |
| Small retruded chin | Mõnikord (5–29%) |
| Thin red part of the upper lip | Mõnikord (5–29%) |
| Wide mouth | Mõnikord (5–29%) |
| Wry neck | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Heart shaped uterus | Alati |
| Cystic kidney disease | Väga sageli (80–99%) |
| Decreased glomerular filtration rate | Väga sageli (80–99%) |
| Polycystic kidney dysplasia | Väga sageli (80–99%) |
| Renal failure | Väga sageli (80–99%) |
| Chronic kidney disease | Sageli (30–79%) |
| Stage 5 chronic kidney disease | Sageli (30–79%) |
| Calcium oxalate nephrolithiasis | Mõnikord (5–29%) |
| Enlarged kidney | Mõnikord (5–29%) |
| Frequent urinary tract infections | Mõnikord (5–29%) |
| Hydronephrosis | Mõnikord (5–29%) |
| Pyelonephritis | Mõnikord (5–29%) |
| Reduced sperm motility | Mõnikord (5–29%) |
| Underdeveloped bladder | Mõnikord (5–29%) |
| Underdeveloped ovary | Mõnikord (5–29%) |
| Ureteral hypoplasia | Mõnikord (5–29%) |
| Uric acid stones | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Degeneration of cerebellum | Alati |
| Degeneration of cerebrum | Alati |
| Delayed CNS myelination | Alati |
| Epilepsy | Alati |
| Generalized brain degeneration | Alati |
| Global developmental delay | Alati |
| Intellectual disability | Väga sageli (80–99%) |
| Delayed myelination | Mõnikord (5–29%) |
| Epileptic encephalopathy | Mõnikord (5–29%) |
| Fluid-filled sac located in membrane surrounding brain or spinal cord | Mõnikord (5–29%) |
| Inappropriate crying | Mõnikord (5–29%) |
| Increased reflexes | Mõnikord (5–29%) |
| Irritability | Mõnikord (5–29%) |
| Widened subarachnoid space | Mõnikord (5–29%) |
| Poor speech | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Increased spleen size | Alati |
| Abnormality of the heart | Sageli (30–79%) |
| Fluid around heart | Sageli (30–79%) |
| High blood pressure | Sageli (30–79%) |
| Abnormal kidney artery | Mõnikord (5–29%) |
| Abnormal left ventricular outflow tract morphology | Mõnikord (5–29%) |
| Abnormal systemic arterial morphology | Mõnikord (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Mõnikord (5–29%) |
| Brain aneurysm | Mõnikord (5–29%) |
| Bulge in wall of root of large artery that carries blood away from heart | Mõnikord (5–29%) |
| Hole in heart wall separating two lower heart chambers | Mõnikord (5–29%) |
| Mitral valve prolapse | Mõnikord (5–29%) |
| Right ventricular dilatation | Mõnikord (5–29%) |
| Tricuspid regurgitation | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal skeletal development | Alati |
| Low muscle tone | Alati |
| Narrow greater sciatic notch | Alati |
| Short long bone | Alati |
| Abnormal bone maturation | Mõnikord (5–29%) |
| Broad ischia | Mõnikord (5–29%) |
| Congenital diaphragmatic hernia | Mõnikord (5–29%) |
| Delayed bone maturation | Mõnikord (5–29%) |
| Flexed joint that cannot be straightened | Mõnikord (5–29%) |
| Hunched back | Mõnikord (5–29%) |
| Inability to make and keep healthy fat tissue | Mõnikord (5–29%) |
| Lower limb spasticity | Mõnikord (5–29%) |
| Poorly developed skeletal musculature | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver | Alati |
| Villous atrophy | Alati |
| Liver cysts | Väga sageli (80–99%) |
| Omphalocele | Sageli (30–79%) |
| Periportal fibrosis | Sageli (30–79%) |
| Accumulation of fluid in the abdomen | Mõnikord (5–29%) |
| Acid reflux | Mõnikord (5–29%) |
| Diarrhea | Mõnikord (5–29%) |
| Pancreatic cysts | Mõnikord (5–29%) |
| Polycystic liver disease | Mõnikord (5–29%) |
| Vomiting | Mõnikord (5–29%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased circulating cholesterol level | Alati |
| Low albumin | Alati |
| Type I transferrin isoform profile | Alati |
| Elevated creatinine | Väga sageli (80–99%) |
| Abnormal urinary electrolyte concentration | Sageli (30–79%) |
| Albuminuria | Sageli (30–79%) |
| Blood in urine | Sageli (30–79%) |
| Fetal skin edema | Mõnikord (5–29%) |
| Hydrops fetalis | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Broad wide portion of long bone | Alati |
| Ulnar deviation of the hand | Alati |
| Hip dislocation | Sageli (30–79%) |
| Club feet | Mõnikord (5–29%) |
| Disproportionately short upper portion of limb | Mõnikord (5–29%) |
| Flared wide portion of long bone | Mõnikord (5–29%) |
| Hitchhiker thumb | Mõnikord (5–29%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Mõnikord (5–29%) |
| Less than 10 fetal movements in 12 hours | Mõnikord (5–29%) |
| Low levels of amniotic fluid | Mõnikord (5–29%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Inverted nipples | Alati |
| Small nipples | Mõnikord (5–29%) |
| Wide-spaced nipples | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ears rotated toward back of head | Alati |
| Low-set ears | Alati |
| Large fleshy ears | Sageli (30–79%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Inward turning cross eyed | Alati |
| Bulging eye | Väga sageli (80–99%) |
| Wide-set eyes | Sageli (30–79%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Excessive hair growth | Mõnikord (5–29%) |
| Focal absence of scalp tissue | Mõnikord (5–29%) |
| Frontotemporal hypertrichosis | Pole registreeritud |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Reduced antithrombin III activity | Alati |
| Reduced factor XI activity | Alati |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal lung lobation | Alati |
| Poorly developed lungs | Alati |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Pituitary growth hormone cell adenoma | Harva (1–4%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Asthma | Alati |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Flank pain | Sageli (30–79%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Väga sageli (80–99%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga ALG9 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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