Trăsături

Trăsături asociate cu ARVCF

ARVCF delta catenin family member

Human Phenotype Ontology asociază 131 trăsături cu ARVCF, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal facial shape	Foarte des (80–99%)
Bulbous nose	Foarte des (80–99%)
Cleft palate	Foarte des (80–99%)
Corners of eye widely separated	Foarte des (80–99%)
Eye folds	Foarte des (80–99%)
Flattening of the skull base	Foarte des (80–99%)
Prominent nasal bridge	Foarte des (80–99%)
Upward slanting of the opening between the eyelids	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Abnormal dentition	Des (30–79%)
Abnormality of the eyelid	Des (30–79%)
Abnormality of the skull	Des (30–79%)
Dental cavities	Des (30–79%)
Long face	Des (30–79%)
Long philtrum	Des (30–79%)
Short neck	Des (30–79%)
Zygomatic flattening	Des (30–79%)
Abnormal tooth enamel	Uneori (5–29%)
Abnormally small head	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Multiple suture craniosynostosis	Uneori (5–29%)
Narrow mouth	Uneori (5–29%)
Retinal arteriolar tortuosity	Uneori (5–29%)
Short philtrum	Uneori (5–29%)
Tall shaped head	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Difficulty finding words	Foarte des (80–99%)
Anxiety	Des (30–79%)
Attention deficit	Des (30–79%)
Global developmental delay	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
Meningocele	Des (30–79%)
Specific learning disability	Des (30–79%)
Arrhinencephaly	Uneori (5–29%)
Autism	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Bipolar disorder	Uneori (5–29%)
Depression	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Parkinsonism	Uneori (5–29%)
Schizophrenia	Uneori (5–29%)
Split spine	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal aortic arch morphology	Foarte des (80–99%)
Abnormal cardiovascular system morphology	Foarte des (80–99%)
Abnormal pulmonary valve morphology	Foarte des (80–99%)
An opening in the wall separating the top two chambers of the heart	Foarte des (80–99%)
Hole in heart wall separating two lower heart chambers	Foarte des (80–99%)
Small thymus	Foarte des (80–99%)
Tetralogy of Fallot	Foarte des (80–99%)
Truncus arteriosus	Foarte des (80–99%)
Abnormality of the tonsils	Des (30–79%)
Abnormal aortic valve morphology	Uneori (5–29%)
Hypertensive crisis	Uneori (5–29%)
Increased spleen size	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Tricuspid atresia	Uneori (5–29%)
Varicose veins	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Anorectal anomaly	Des (30–79%)
Constipation	Des (30–79%)
Absent anus	Uneori (5–29%)
Acid reflux	Uneori (5–29%)
Enlarged colon lacking nerve cells	Uneori (5–29%)
Feeding difficulties in infancy	Uneori (5–29%)
Gallstones	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)
Intestinal malrotation	Uneori (5–29%)
Loss of bowel control	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Drooping upper eyelid	Des (30–79%)
New blood vessel formation in cornea	Des (30–79%)
Posterior embryotoxon	Des (30–79%)
Abnormally small eyeball	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Small kidneys	Des (30–79%)
Abnormality of the uterus	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Multiple kidney cysts	Uneori (5–29%)
Polycystic kidney dysplasia	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Conductive deafness	Foarte des (80–99%)
Low-set ears	Foarte des (80–99%)
Chronic infections of the middle ear	Des (30–79%)
Hearing impairment	Des (30–79%)
Overfolded ears	Des (30–79%)
Small earlobe	Des (30–79%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
Intermittent involuntary muscle spasm	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormality of the chest	Uneori (5–29%)
Arthritis	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Long slender fingers	Des (30–79%)
Club feet	Uneori (5–29%)
Dislocated kneecap	Uneori (5–29%)
Duplication of bones of the toes	Uneori (5–29%)
Extra finger	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Decreased immune function	Foarte des (80–99%)
Acne	Des (30–79%)
Seborrheic dermatitis	Des (30–79%)
Asthma	Uneori (5–29%)
Autoimmunity	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the pharynx	Foarte des (80–99%)
Abnormal lung lobation	Uneori (5–29%)
Chronic pulmonary obstruction	Uneori (5–29%)
Partial or complete collapse of part or entire lung	Uneori (5–29%)
Softening of voice box tissue	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Blood spots	Uneori (5–29%)
Gastrointestinal bleeding	Uneori (5–29%)
Low platelet count	Uneori (5–29%)
Platelet abnormalities	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Des (30–79%)
Faltering weight	Uneori (5–29%)
Obesity	Uneori (5–29%)
Prenatal growth deficiency	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased parathyroid hormone secretion	Des (30–79%)
Overactive thyroid	Uneori (5–29%)
Underactive thyroid	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Impaired T cell function	Des (30–79%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Patchy loss of skin color	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Nasal speech	Foarte des (80–99%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Muscle ache	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Low blood calcium levels	Des (30–79%)

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

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