Trăsături

Trăsături asociate cu FOCAD

focadhesin

Human Phenotype Ontology asociază 100 trăsături cu FOCAD, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the digestive system

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

Laboratory abnormality

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

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Increased spleen size	Des (30–79%)
Abnormal left ventricular function	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Dilatation of the ventricular cavity	Uneori (5–29%)
Enlarged heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Left atrial enlargement	Uneori (5–29%)
Narrowing of blood vessel below aortic heart valve	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)
Systolic heart murmur	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed CNS myelination	Uneori (5–29%)
Delayed speech and language development	Uneori (5–29%)
Elevated brain N-acetyl aspartate level by MRS	Uneori (5–29%)
Hepatic encephalopathy	Uneori (5–29%)
Inappropriate crying	Uneori (5–29%)
Irritability	Uneori (5–29%)
Neurodevelopmental delay	Uneori (5–29%)
Poor fine motor coordination	Uneori (5–29%)
Short attention span	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Asymmetry of the posterior head	Uneori (5–29%)
Big head present at birth	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Eye folds	Uneori (5–29%)
High forehead	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Narrow nasal ridge	Uneori (5–29%)
Triangular face	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormality of coagulation	Des (30–79%)
Low number of red blood cells or hemoglobin	Des (30–79%)
Decreased blood leukocyte number	Uneori (5–29%)
High lymphocyte count	Uneori (5–29%)
Low platelet count	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Frequent urinary tract infections	Uneori (5–29%)
Hydrocele testis	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Hyperechogenic kidneys	Uneori (5–29%)
Hypospadias	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Acute severe asthma	Uneori (5–29%)
Cow milk allergy	Uneori (5–29%)
Eczema	Uneori (5–29%)
Infection in blood stream	Uneori (5–29%)
Pneumonia	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Blue nevus	Uneori (5–29%)
Dermal translucency	Uneori (5–29%)
Dry hair	Uneori (5–29%)
Poor nail formation	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Cholesteatoma	Uneori (5–29%)
Recurrent middle ear infection	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Double-Jointed	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Abnormal circulating thyroid hormone concentration	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Cough	Uneori (5–29%)

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

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