Traits

Traits linked to FOCAD

focadhesin

The Human Phenotype Ontology links 100 traits to FOCAD, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Often (30–79%)
Abnormal hepatic echogenicity	Often (30–79%)
Diarrhea	Often (30–79%)
Enlarged liver	Often (30–79%)
Feeding difficulties	Often (30–79%)
Impaired release of bile from liver	Often (30–79%)
Inguinal hernia	Often (30–79%)
Jaundice	Often (30–79%)
Liver failure	Often (30–79%)
Umbilical hernia	Often (30–79%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Ballooning hepatocyte degeneration	Sometimes (5–29%)
Biliary hyperplasia	Sometimes (5–29%)
Chronic gastritis	Sometimes (5–29%)
Dependency on parenteral nutrition	Sometimes (5–29%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Sometimes (5–29%)
Malnutrition	Sometimes (5–29%)
Peritonitis	Sometimes (5–29%)
Portal inflammation	Sometimes (5–29%)
Protein-losing enteropathy	Sometimes (5–29%)
Underdeveloped pancreas	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating alpha-fetoprotein concentration	Often (30–79%)
Elevated serum ferritin	Often (30–79%)
High blood bilirubin levels	Often (30–79%)
High liver enzymes	Often (30–79%)
Hyperinsulinemic hypoglycemia	Often (30–79%)
Abnormal urinary amino-acid findings	Sometimes (5–29%)
Alpha-aminobutyric aciduria	Sometimes (5–29%)
Decreased protein levels in blood	Sometimes (5–29%)
Deficient in vitamin D	Sometimes (5–29%)
Episodic fever	Sometimes (5–29%)
Excess fluid in lungs	Sometimes (5–29%)
Fatty infiltration of liver	Sometimes (5–29%)
High blood ammonia levels	Sometimes (5–29%)
Increased blood alanine	Sometimes (5–29%)
Increased hepatic glycogen content	Sometimes (5–29%)
Increased iron concentration in liver	Sometimes (5–29%)
Low blood calcium levels	Sometimes (5–29%)
Low blood sodium levels	Sometimes (5–29%)
Metabolic acidosis	Sometimes (5–29%)
Vitamin A deficiency	Sometimes (5–29%)
Vitamin E deficiency	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Often (30–79%)
Abnormal left ventricular function	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Dilatation of the ventricular cavity	Sometimes (5–29%)
Enlarged heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Left atrial enlargement	Sometimes (5–29%)
Narrowing of blood vessel below aortic heart valve	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Systolic heart murmur	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed CNS myelination	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Elevated brain N-acetyl aspartate level by MRS	Sometimes (5–29%)
Hepatic encephalopathy	Sometimes (5–29%)
Inappropriate crying	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Neurodevelopmental delay	Sometimes (5–29%)
Poor fine motor coordination	Sometimes (5–29%)
Short attention span	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Asymmetry of the posterior head	Sometimes (5–29%)
Big head present at birth	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Narrow nasal ridge	Sometimes (5–29%)
Triangular face	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormality of coagulation	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Decreased blood leukocyte number	Sometimes (5–29%)
High lymphocyte count	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	Sometimes (5–29%)
Hydrocele testis	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Hyperechogenic kidneys	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Acute severe asthma	Sometimes (5–29%)
Cow milk allergy	Sometimes (5–29%)
Eczema	Sometimes (5–29%)
Infection in blood stream	Sometimes (5–29%)
Pneumonia	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Blue nevus	Sometimes (5–29%)
Dermal translucency	Sometimes (5–29%)
Dry hair	Sometimes (5–29%)
Poor nail formation	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Cholesteatoma	Sometimes (5–29%)
Recurrent middle ear infection	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal circulating thyroid hormone concentration	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Cough	Sometimes (5–29%)

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 FOCAD and how often each is seen. Find out more at hpo.jax.org.

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