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Egenskaper
Egenskaper kopplade till ALG9
ALG9 alpha-1,2-mannosyltransferase
Human Phenotype Ontology kopplar 137 egenskaper till ALG9, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.
AtlasVem vi hjälperVår vetenskapProdukterResultat
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AtlasVem vi hjälperVår vetenskapProdukterResultat
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Abnormality of head or neck
| Egenskap | Hur ofta den förekommer |
|---|---|
| Beaked nose | Alltid |
| Little lower jaw | Alltid |
| Receding chin | Alltid |
| Short neck | Alltid |
| Smooth philtrum | Alltid |
| Thickened skin folds of neck | Alltid |
| Underdeveloped tissue around nostril | Alltid |
| Abnormally small head | Mycket ofta (80–99 %) |
| Decreased bone formation of skull | Mycket ofta (80–99 %) |
| Corners of eye widely separated | Ofta (30–79 %) |
| Eye folds | Ofta (30–79 %) |
| Progressively abnormally small cranium | Ofta (30–79 %) |
| Wider-than-typical soft spot of skull | Ofta (30–79 %) |
| Bifid uvula | Ibland (5–29 %) |
| Broad head shape | Ibland (5–29 %) |
| Decreased depth of eye sockets | Ibland (5–29 %) |
| Delayed cranial suture closure | Ibland (5–29 %) |
| Depressed nasal bridge | Ibland (5–29 %) |
| Frontal bossing | Ibland (5–29 %) |
| Long philtrum | Ibland (5–29 %) |
| Low hairline at back of neck | Ibland (5–29 %) |
| Low insertion of columella | Ibland (5–29 %) |
| Prominent metopic ridge | Ibland (5–29 %) |
| Short nose | Ibland (5–29 %) |
| Small retruded chin | Ibland (5–29 %) |
| Thin red part of the upper lip | Ibland (5–29 %) |
| Wide mouth | Ibland (5–29 %) |
| Wry neck | Ibland (5–29 %) |
Abnormality of the genitourinary system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Heart shaped uterus | Alltid |
| Cystic kidney disease | Mycket ofta (80–99 %) |
| Decreased glomerular filtration rate | Mycket ofta (80–99 %) |
| Polycystic kidney dysplasia | Mycket ofta (80–99 %) |
| Renal failure | Mycket ofta (80–99 %) |
| Chronic kidney disease | Ofta (30–79 %) |
| Stage 5 chronic kidney disease | Ofta (30–79 %) |
| Calcium oxalate nephrolithiasis | Ibland (5–29 %) |
| Enlarged kidney | Ibland (5–29 %) |
| Frequent urinary tract infections | Ibland (5–29 %) |
| Hydronephrosis | Ibland (5–29 %) |
| Pyelonephritis | Ibland (5–29 %) |
| Reduced sperm motility | Ibland (5–29 %) |
| Underdeveloped bladder | Ibland (5–29 %) |
| Underdeveloped ovary | Ibland (5–29 %) |
| Ureteral hypoplasia | Ibland (5–29 %) |
| Uric acid stones | Ibland (5–29 %) |
Abnormality of the nervous system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Degeneration of cerebellum | Alltid |
| Degeneration of cerebrum | Alltid |
| Delayed CNS myelination | Alltid |
| Epilepsy | Alltid |
| Generalized brain degeneration | Alltid |
| Global developmental delay | Alltid |
| Intellectual disability | Mycket ofta (80–99 %) |
| Delayed myelination | Ibland (5–29 %) |
| Epileptic encephalopathy | Ibland (5–29 %) |
| Fluid-filled sac located in membrane surrounding brain or spinal cord | Ibland (5–29 %) |
| Inappropriate crying | Ibland (5–29 %) |
| Increased reflexes | Ibland (5–29 %) |
| Irritability | Ibland (5–29 %) |
| Widened subarachnoid space | Ibland (5–29 %) |
| Poor speech | Inte registrerat |
Abnormality of the cardiovascular system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Increased spleen size | Alltid |
| Abnormality of the heart | Ofta (30–79 %) |
| Fluid around heart | Ofta (30–79 %) |
| High blood pressure | Ofta (30–79 %) |
| Abnormal kidney artery | Ibland (5–29 %) |
| Abnormal left ventricular outflow tract morphology | Ibland (5–29 %) |
| Abnormal systemic arterial morphology | Ibland (5–29 %) |
| An opening in the wall separating the top two chambers of the heart | Ibland (5–29 %) |
| Brain aneurysm | Ibland (5–29 %) |
| Bulge in wall of root of large artery that carries blood away from heart | Ibland (5–29 %) |
| Hole in heart wall separating two lower heart chambers | Ibland (5–29 %) |
| Mitral valve prolapse | Ibland (5–29 %) |
| Right ventricular dilatation | Ibland (5–29 %) |
| Tricuspid regurgitation | Ibland (5–29 %) |
Abnormality of the musculoskeletal system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Abnormal skeletal development | Alltid |
| Low muscle tone | Alltid |
| Narrow greater sciatic notch | Alltid |
| Short long bone | Alltid |
| Abnormal bone maturation | Ibland (5–29 %) |
| Broad ischia | Ibland (5–29 %) |
| Congenital diaphragmatic hernia | Ibland (5–29 %) |
| Delayed bone maturation | Ibland (5–29 %) |
| Flexed joint that cannot be straightened | Ibland (5–29 %) |
| Hunched back | Ibland (5–29 %) |
| Inability to make and keep healthy fat tissue | Ibland (5–29 %) |
| Lower limb spasticity | Ibland (5–29 %) |
| Poorly developed skeletal musculature | Ibland (5–29 %) |
Abnormality of the digestive system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Enlarged liver | Alltid |
| Villous atrophy | Alltid |
| Liver cysts | Mycket ofta (80–99 %) |
| Omphalocele | Ofta (30–79 %) |
| Periportal fibrosis | Ofta (30–79 %) |
| Accumulation of fluid in the abdomen | Ibland (5–29 %) |
| Acid reflux | Ibland (5–29 %) |
| Diarrhea | Ibland (5–29 %) |
| Pancreatic cysts | Ibland (5–29 %) |
| Polycystic liver disease | Ibland (5–29 %) |
| Vomiting | Ibland (5–29 %) |
Laboratory abnormality
| Egenskap | Hur ofta den förekommer |
|---|---|
| Decreased circulating cholesterol level | Alltid |
| Low albumin | Alltid |
| Type I transferrin isoform profile | Alltid |
| Elevated creatinine | Mycket ofta (80–99 %) |
| Abnormal urinary electrolyte concentration | Ofta (30–79 %) |
| Albuminuria | Ofta (30–79 %) |
| Blood in urine | Ofta (30–79 %) |
| Fetal skin edema | Ibland (5–29 %) |
| Hydrops fetalis | Ibland (5–29 %) |
Abnormality of limbs
| Egenskap | Hur ofta den förekommer |
|---|---|
| Broad wide portion of long bone | Alltid |
| Ulnar deviation of the hand | Alltid |
| Hip dislocation | Ofta (30–79 %) |
| Club feet | Ibland (5–29 %) |
| Disproportionately short upper portion of limb | Ibland (5–29 %) |
| Flared wide portion of long bone | Ibland (5–29 %) |
| Hitchhiker thumb | Ibland (5–29 %) |
Abnormality of prenatal development or birth
| Egenskap | Hur ofta den förekommer |
|---|---|
| High levels of amniotic fluid | Ibland (5–29 %) |
| Less than 10 fetal movements in 12 hours | Ibland (5–29 %) |
| Low levels of amniotic fluid | Ibland (5–29 %) |
Abnormality of the breast
| Egenskap | Hur ofta den förekommer |
|---|---|
| Inverted nipples | Alltid |
| Small nipples | Ibland (5–29 %) |
| Wide-spaced nipples | Ibland (5–29 %) |
Abnormality of the ear
| Egenskap | Hur ofta den förekommer |
|---|---|
| Ears rotated toward back of head | Alltid |
| Low-set ears | Alltid |
| Large fleshy ears | Ofta (30–79 %) |
Abnormality of the eye
| Egenskap | Hur ofta den förekommer |
|---|---|
| Inward turning cross eyed | Alltid |
| Bulging eye | Mycket ofta (80–99 %) |
| Wide-set eyes | Ofta (30–79 %) |
Abnormality of the integument
| Egenskap | Hur ofta den förekommer |
|---|---|
| Excessive hair growth | Ibland (5–29 %) |
| Focal absence of scalp tissue | Ibland (5–29 %) |
| Frontotemporal hypertrichosis | Inte registrerat |
Abnormality of blood and blood-forming tissues
| Egenskap | Hur ofta den förekommer |
|---|---|
| Reduced antithrombin III activity | Alltid |
| Reduced factor XI activity | Alltid |
Abnormality of the respiratory system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Abnormal lung lobation | Alltid |
| Poorly developed lungs | Alltid |
Abnormality of the endocrine system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Pituitary growth hormone cell adenoma | Sällan (1–4%) |
Abnormality of the immune system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Asthma | Alltid |
Constitutional symptom
| Egenskap | Hur ofta den förekommer |
|---|---|
| Flank pain | Ofta (30–79 %) |
Growth abnormality
| Egenskap | Hur ofta den förekommer |
|---|---|
| Faltering weight | Mycket ofta (80–99 %) |
Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.
Varifrån informationen kommer
- Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till ALG9 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.
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