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Traits
Traits linked to ALG9
ALG9 alpha-1,2-mannosyltransferase
The Human Phenotype Ontology links 137 traits to ALG9, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Heart shaped uterus | Always |
| Cystic kidney disease | Very often (80–99%) |
| Decreased glomerular filtration rate | Very often (80–99%) |
| Polycystic kidney dysplasia | Very often (80–99%) |
| Renal failure | Very often (80–99%) |
| Chronic kidney disease | Often (30–79%) |
| Stage 5 chronic kidney disease | Often (30–79%) |
| Calcium oxalate nephrolithiasis | Sometimes (5–29%) |
| Enlarged kidney | Sometimes (5–29%) |
| Frequent urinary tract infections | Sometimes (5–29%) |
| Hydronephrosis | Sometimes (5–29%) |
| Pyelonephritis | Sometimes (5–29%) |
| Reduced sperm motility | Sometimes (5–29%) |
| Underdeveloped bladder | Sometimes (5–29%) |
| Underdeveloped ovary | Sometimes (5–29%) |
| Ureteral hypoplasia | Sometimes (5–29%) |
| Uric acid stones | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Degeneration of cerebellum | Always |
| Degeneration of cerebrum | Always |
| Delayed CNS myelination | Always |
| Epilepsy | Always |
| Generalized brain degeneration | Always |
| Global developmental delay | Always |
| Intellectual disability | Very often (80–99%) |
| Delayed myelination | Sometimes (5–29%) |
| Epileptic encephalopathy | Sometimes (5–29%) |
| Fluid-filled sac located in membrane surrounding brain or spinal cord | Sometimes (5–29%) |
| Inappropriate crying | Sometimes (5–29%) |
| Increased reflexes | Sometimes (5–29%) |
| Irritability | Sometimes (5–29%) |
| Widened subarachnoid space | Sometimes (5–29%) |
| Poor speech | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Increased spleen size | Always |
| Abnormality of the heart | Often (30–79%) |
| Fluid around heart | Often (30–79%) |
| High blood pressure | Often (30–79%) |
| Abnormal kidney artery | Sometimes (5–29%) |
| Abnormal left ventricular outflow tract morphology | Sometimes (5–29%) |
| Abnormal systemic arterial morphology | Sometimes (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
| Brain aneurysm | Sometimes (5–29%) |
| Bulge in wall of root of large artery that carries blood away from heart | Sometimes (5–29%) |
| Hole in heart wall separating two lower heart chambers | Sometimes (5–29%) |
| Mitral valve prolapse | Sometimes (5–29%) |
| Right ventricular dilatation | Sometimes (5–29%) |
| Tricuspid regurgitation | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Abnormal skeletal development | Always |
| Low muscle tone | Always |
| Narrow greater sciatic notch | Always |
| Short long bone | Always |
| Abnormal bone maturation | Sometimes (5–29%) |
| Broad ischia | Sometimes (5–29%) |
| Congenital diaphragmatic hernia | Sometimes (5–29%) |
| Delayed bone maturation | Sometimes (5–29%) |
| Flexed joint that cannot be straightened | Sometimes (5–29%) |
| Hunched back | Sometimes (5–29%) |
| Inability to make and keep healthy fat tissue | Sometimes (5–29%) |
| Lower limb spasticity | Sometimes (5–29%) |
| Poorly developed skeletal musculature | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Enlarged liver | Always |
| Villous atrophy | Always |
| Liver cysts | Very often (80–99%) |
| Omphalocele | Often (30–79%) |
| Periportal fibrosis | Often (30–79%) |
| Accumulation of fluid in the abdomen | Sometimes (5–29%) |
| Acid reflux | Sometimes (5–29%) |
| Diarrhea | Sometimes (5–29%) |
| Pancreatic cysts | Sometimes (5–29%) |
| Polycystic liver disease | Sometimes (5–29%) |
| Vomiting | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Decreased circulating cholesterol level | Always |
| Low albumin | Always |
| Type I transferrin isoform profile | Always |
| Elevated creatinine | Very often (80–99%) |
| Abnormal urinary electrolyte concentration | Often (30–79%) |
| Albuminuria | Often (30–79%) |
| Blood in urine | Often (30–79%) |
| Fetal skin edema | Sometimes (5–29%) |
| Hydrops fetalis | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Broad wide portion of long bone | Always |
| Ulnar deviation of the hand | Always |
| Hip dislocation | Often (30–79%) |
| Club feet | Sometimes (5–29%) |
| Disproportionately short upper portion of limb | Sometimes (5–29%) |
| Flared wide portion of long bone | Sometimes (5–29%) |
| Hitchhiker thumb | Sometimes (5–29%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| High levels of amniotic fluid | Sometimes (5–29%) |
| Less than 10 fetal movements in 12 hours | Sometimes (5–29%) |
| Low levels of amniotic fluid | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Inverted nipples | Always |
| Small nipples | Sometimes (5–29%) |
| Wide-spaced nipples | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Ears rotated toward back of head | Always |
| Low-set ears | Always |
| Large fleshy ears | Often (30–79%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Inward turning cross eyed | Always |
| Bulging eye | Very often (80–99%) |
| Wide-set eyes | Often (30–79%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Excessive hair growth | Sometimes (5–29%) |
| Focal absence of scalp tissue | Sometimes (5–29%) |
| Frontotemporal hypertrichosis | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Reduced antithrombin III activity | Always |
| Reduced factor XI activity | Always |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Abnormal lung lobation | Always |
| Poorly developed lungs | Always |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Pituitary growth hormone cell adenoma | Rarely (1–4%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Asthma | Always |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Flank pain | Often (30–79%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Very often (80–99%) |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to ALG9 and how often each is seen. Find out more at hpo.jax.org.
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