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

Abnormality of the nervous system

Trait	Hur ofta den förekommer
Difficulty finding words	Mycket ofta (80–99 %)
Anxiety	Ofta (30–79 %)
Attention deficit	Ofta (30–79 %)
Global developmental delay	Ofta (30–79 %)
Intellectual disability, mild	Ofta (30–79 %)
Meningocele	Ofta (30–79 %)
Specific learning disability	Ofta (30–79 %)
Arrhinencephaly	Ibland (5–29 %)
Autism	Ibland (5–29 %)
Behavioral abnormality	Ibland (5–29 %)
Bipolar disorder	Ibland (5–29 %)
Depression	Ibland (5–29 %)
Epilepsy	Ibland (5–29 %)
Intellectual disability	Ibland (5–29 %)
Parkinsonism	Ibland (5–29 %)
Schizophrenia	Ibland (5–29 %)
Split spine	Ibland (5–29 %)
Too much cerebrospinal fluid in the brain	Ibland (5–29 %)

Abnormality of the cardiovascular system

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

Abnormality of the digestive system

Trait	Hur ofta den förekommer
Anorectal anomaly	Ofta (30–79 %)
Constipation	Ofta (30–79 %)
Absent anus	Ibland (5–29 %)
Acid reflux	Ibland (5–29 %)
Enlarged colon lacking nerve cells	Ibland (5–29 %)
Feeding difficulties in infancy	Ibland (5–29 %)
Gallstones	Ibland (5–29 %)
Inguinal hernia	Ibland (5–29 %)
Intestinal malrotation	Ibland (5–29 %)
Loss of bowel control	Ibland (5–29 %)
Umbilical hernia	Ibland (5–29 %)

Abnormality of the eye

Trait	Hur ofta den förekommer
Drooping upper eyelid	Ofta (30–79 %)
New blood vessel formation in cornea	Ofta (30–79 %)
Posterior embryotoxon	Ofta (30–79 %)
Abnormally small eyeball	Ibland (5–29 %)
Clouding of the lens of the eye	Ibland (5–29 %)
Cross-eyed	Ibland (5–29 %)
Glaucoma	Ibland (5–29 %)
Optic atrophy	Ibland (5–29 %)
Wide-set eyes	Ibland (5–29 %)

Abnormality of the genitourinary system

Trait	Hur ofta den förekommer
Small kidneys	Ofta (30–79 %)
Abnormality of the uterus	Ibland (5–29 %)
Hypospadias	Ibland (5–29 %)
Multiple kidney cysts	Ibland (5–29 %)
Polycystic kidney dysplasia	Ibland (5–29 %)
Undescended testes	Ibland (5–29 %)
Vesicoureteral reflux	Ibland (5–29 %)

Abnormality of the ear

Trait	Hur ofta den förekommer
Conductive deafness	Mycket ofta (80–99 %)
Low-set ears	Mycket ofta (80–99 %)
Chronic infections of the middle ear	Ofta (30–79 %)
Hearing impairment	Ofta (30–79 %)
Overfolded ears	Ofta (30–79 %)
Small earlobe	Ofta (30–79 %)

Abnormality of the musculoskeletal system

Trait	Hur ofta den förekommer
Low muscle tone	Mycket ofta (80–99 %)
Intermittent involuntary muscle spasm	Ofta (30–79 %)
Scoliosis	Ofta (30–79 %)
Abnormality of the chest	Ibland (5–29 %)
Arthritis	Ibland (5–29 %)
Double-Jointed	Ibland (5–29 %)

Abnormality of limbs

Trait	Hur ofta den förekommer
Long slender fingers	Ofta (30–79 %)
Club feet	Ibland (5–29 %)
Dislocated kneecap	Ibland (5–29 %)
Duplication of bones of the toes	Ibland (5–29 %)
Extra finger	Ibland (5–29 %)

Abnormality of the immune system

Trait	Hur ofta den förekommer
Decreased immune function	Mycket ofta (80–99 %)
Acne	Ofta (30–79 %)
Seborrheic dermatitis	Ofta (30–79 %)
Asthma	Ibland (5–29 %)
Autoimmunity	Ibland (5–29 %)

Abnormality of the respiratory system

Trait	Hur ofta den förekommer
Abnormality of the pharynx	Mycket ofta (80–99 %)
Abnormal lung lobation	Ibland (5–29 %)
Chronic pulmonary obstruction	Ibland (5–29 %)
Partial or complete collapse of part or entire lung	Ibland (5–29 %)
Softening of voice box tissue	Ibland (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hur ofta den förekommer
Blood spots	Ibland (5–29 %)
Gastrointestinal bleeding	Ibland (5–29 %)
Low platelet count	Ibland (5–29 %)
Platelet abnormalities	Ibland (5–29 %)

Growth abnormality

Trait	Hur ofta den förekommer
Short stature	Ofta (30–79 %)
Faltering weight	Ibland (5–29 %)
Obesity	Ibland (5–29 %)
Prenatal growth deficiency	Ibland (5–29 %)

Abnormality of the endocrine system

Trait	Hur ofta den förekommer
Decreased parathyroid hormone secretion	Ofta (30–79 %)
Overactive thyroid	Ibland (5–29 %)
Underactive thyroid	Ibland (5–29 %)

Abnormal cellular phenotype

Trait	Hur ofta den förekommer
Impaired T cell function	Ofta (30–79 %)

Abnormality of prenatal development or birth

Trait	Hur ofta den förekommer
High levels of amniotic fluid	Ibland (5–29 %)

Abnormality of the integument

Trait	Hur ofta den förekommer
Patchy loss of skin color	Ibland (5–29 %)

Abnormality of the voice

Trait	Hur ofta den förekommer
Nasal speech	Mycket ofta (80–99 %)

Constitutional symptom

Trait	Hur ofta den förekommer
Muscle ache	Ofta (30–79 %)

Laboratory abnormality

Trait	Hur ofta den förekommer
Low blood calcium levels	Ofta (30–79 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

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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