Traits

Traits linked to ARVCF

ARVCF delta catenin family member

The Human Phenotype Ontology links 131 traits to ARVCF, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormal facial shape	Svært ofte (80–99 %)
Bulbous nose	Svært ofte (80–99 %)
Cleft palate	Svært ofte (80–99 %)
Corners of eye widely separated	Svært ofte (80–99 %)
Eye folds	Svært ofte (80–99 %)
Flattening of the skull base	Svært ofte (80–99 %)
Prominent nasal bridge	Svært ofte (80–99 %)
Upward slanting of the opening between the eyelids	Svært ofte (80–99 %)
Wide nasal bridge	Svært ofte (80–99 %)
Abnormal dentition	Ofte (30–79 %)
Abnormality of the eyelid	Ofte (30–79 %)
Abnormality of the skull	Ofte (30–79 %)
Dental cavities	Ofte (30–79 %)
Long face	Ofte (30–79 %)
Long philtrum	Ofte (30–79 %)
Short neck	Ofte (30–79 %)
Zygomatic flattening	Ofte (30–79 %)
Abnormal tooth enamel	Noen ganger (5–29 %)
Abnormally small head	Noen ganger (5–29 %)
Blockage of the rear opening of the nasal cavity	Noen ganger (5–29 %)
Downward slanting of the opening between the eyelids	Noen ganger (5–29 %)
Little lower jaw	Noen ganger (5–29 %)
Multiple suture craniosynostosis	Noen ganger (5–29 %)
Narrow mouth	Noen ganger (5–29 %)
Retinal arteriolar tortuosity	Noen ganger (5–29 %)
Short philtrum	Noen ganger (5–29 %)
Tall shaped head	Noen ganger (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Difficulty finding words	Svært ofte (80–99 %)
Anxiety	Ofte (30–79 %)
Attention deficit	Ofte (30–79 %)
Global developmental delay	Ofte (30–79 %)
Intellectual disability, mild	Ofte (30–79 %)
Meningocele	Ofte (30–79 %)
Specific learning disability	Ofte (30–79 %)
Arrhinencephaly	Noen ganger (5–29 %)
Autism	Noen ganger (5–29 %)
Behavioral abnormality	Noen ganger (5–29 %)
Bipolar disorder	Noen ganger (5–29 %)
Depression	Noen ganger (5–29 %)
Epilepsy	Noen ganger (5–29 %)
Intellectual disability	Noen ganger (5–29 %)
Parkinsonism	Noen ganger (5–29 %)
Schizophrenia	Noen ganger (5–29 %)
Split spine	Noen ganger (5–29 %)
Too much cerebrospinal fluid in the brain	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormal aortic arch morphology	Svært ofte (80–99 %)
Abnormal cardiovascular system morphology	Svært ofte (80–99 %)
Abnormal pulmonary valve morphology	Svært ofte (80–99 %)
An opening in the wall separating the top two chambers of the heart	Svært ofte (80–99 %)
Hole in heart wall separating two lower heart chambers	Svært ofte (80–99 %)
Small thymus	Svært ofte (80–99 %)
Tetralogy of Fallot	Svært ofte (80–99 %)
Truncus arteriosus	Svært ofte (80–99 %)
Abnormality of the tonsils	Ofte (30–79 %)
Abnormal aortic valve morphology	Noen ganger (5–29 %)
Hypertensive crisis	Noen ganger (5–29 %)
Increased spleen size	Noen ganger (5–29 %)
Patent ductus arteriosus	Noen ganger (5–29 %)
Tricuspid atresia	Noen ganger (5–29 %)
Varicose veins	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Anorectal anomaly	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Absent anus	Noen ganger (5–29 %)
Acid reflux	Noen ganger (5–29 %)
Enlarged colon lacking nerve cells	Noen ganger (5–29 %)
Feeding difficulties in infancy	Noen ganger (5–29 %)
Gallstones	Noen ganger (5–29 %)
Inguinal hernia	Noen ganger (5–29 %)
Intestinal malrotation	Noen ganger (5–29 %)
Loss of bowel control	Noen ganger (5–29 %)
Umbilical hernia	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Drooping upper eyelid	Ofte (30–79 %)
New blood vessel formation in cornea	Ofte (30–79 %)
Posterior embryotoxon	Ofte (30–79 %)
Abnormally small eyeball	Noen ganger (5–29 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Cross-eyed	Noen ganger (5–29 %)
Glaucoma	Noen ganger (5–29 %)
Optic atrophy	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Small kidneys	Ofte (30–79 %)
Abnormality of the uterus	Noen ganger (5–29 %)
Hypospadias	Noen ganger (5–29 %)
Multiple kidney cysts	Noen ganger (5–29 %)
Polycystic kidney dysplasia	Noen ganger (5–29 %)
Undescended testes	Noen ganger (5–29 %)
Vesicoureteral reflux	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Conductive deafness	Svært ofte (80–99 %)
Low-set ears	Svært ofte (80–99 %)
Chronic infections of the middle ear	Ofte (30–79 %)
Hearing impairment	Ofte (30–79 %)
Overfolded ears	Ofte (30–79 %)
Small earlobe	Ofte (30–79 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low muscle tone	Svært ofte (80–99 %)
Intermittent involuntary muscle spasm	Ofte (30–79 %)
Scoliosis	Ofte (30–79 %)
Abnormality of the chest	Noen ganger (5–29 %)
Arthritis	Noen ganger (5–29 %)
Double-Jointed	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Long slender fingers	Ofte (30–79 %)
Club feet	Noen ganger (5–29 %)
Dislocated kneecap	Noen ganger (5–29 %)
Duplication of bones of the toes	Noen ganger (5–29 %)
Extra finger	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Decreased immune function	Svært ofte (80–99 %)
Acne	Ofte (30–79 %)
Seborrheic dermatitis	Ofte (30–79 %)
Asthma	Noen ganger (5–29 %)
Autoimmunity	Noen ganger (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Abnormality of the pharynx	Svært ofte (80–99 %)
Abnormal lung lobation	Noen ganger (5–29 %)
Chronic pulmonary obstruction	Noen ganger (5–29 %)
Partial or complete collapse of part or entire lung	Noen ganger (5–29 %)
Softening of voice box tissue	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Blood spots	Noen ganger (5–29 %)
Gastrointestinal bleeding	Noen ganger (5–29 %)
Low platelet count	Noen ganger (5–29 %)
Platelet abnormalities	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Short stature	Ofte (30–79 %)
Faltering weight	Noen ganger (5–29 %)
Obesity	Noen ganger (5–29 %)
Prenatal growth deficiency	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Decreased parathyroid hormone secretion	Ofte (30–79 %)
Overactive thyroid	Noen ganger (5–29 %)
Underactive thyroid	Noen ganger (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Impaired T cell function	Ofte (30–79 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
High levels of amniotic fluid	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Patchy loss of skin color	Noen ganger (5–29 %)

Abnormality of the voice

Trait	Hvor ofte den forekommer
Nasal speech	Svært ofte (80–99 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Muscle ache	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Low blood calcium levels	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ARVCF and how often each is seen. Find out more at hpo.jax.org.

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