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

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Difficulty finding words	Väga sageli (80–99%)
Anxiety	Sageli (30–79%)
Attention deficit	Sageli (30–79%)
Global developmental delay	Sageli (30–79%)
Intellectual disability, mild	Sageli (30–79%)
Meningocele	Sageli (30–79%)
Specific learning disability	Sageli (30–79%)
Arrhinencephaly	Mõnikord (5–29%)
Autism	Mõnikord (5–29%)
Behavioral abnormality	Mõnikord (5–29%)
Bipolar disorder	Mõnikord (5–29%)
Depression	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)
Intellectual disability	Mõnikord (5–29%)
Parkinsonism	Mõnikord (5–29%)
Schizophrenia	Mõnikord (5–29%)
Split spine	Mõnikord (5–29%)
Too much cerebrospinal fluid in the brain	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Abnormal aortic arch morphology	Väga sageli (80–99%)
Abnormal cardiovascular system morphology	Väga sageli (80–99%)
Abnormal pulmonary valve morphology	Väga sageli (80–99%)
An opening in the wall separating the top two chambers of the heart	Väga sageli (80–99%)
Hole in heart wall separating two lower heart chambers	Väga sageli (80–99%)
Small thymus	Väga sageli (80–99%)
Tetralogy of Fallot	Väga sageli (80–99%)
Truncus arteriosus	Väga sageli (80–99%)
Abnormality of the tonsils	Sageli (30–79%)
Abnormal aortic valve morphology	Mõnikord (5–29%)
Hypertensive crisis	Mõnikord (5–29%)
Increased spleen size	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)
Tricuspid atresia	Mõnikord (5–29%)
Varicose veins	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Anorectal anomaly	Sageli (30–79%)
Constipation	Sageli (30–79%)
Absent anus	Mõnikord (5–29%)
Acid reflux	Mõnikord (5–29%)
Enlarged colon lacking nerve cells	Mõnikord (5–29%)
Feeding difficulties in infancy	Mõnikord (5–29%)
Gallstones	Mõnikord (5–29%)
Inguinal hernia	Mõnikord (5–29%)
Intestinal malrotation	Mõnikord (5–29%)
Loss of bowel control	Mõnikord (5–29%)
Umbilical hernia	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Drooping upper eyelid	Sageli (30–79%)
New blood vessel formation in cornea	Sageli (30–79%)
Posterior embryotoxon	Sageli (30–79%)
Abnormally small eyeball	Mõnikord (5–29%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Glaucoma	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Small kidneys	Sageli (30–79%)
Abnormality of the uterus	Mõnikord (5–29%)
Hypospadias	Mõnikord (5–29%)
Multiple kidney cysts	Mõnikord (5–29%)
Polycystic kidney dysplasia	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)
Vesicoureteral reflux	Mõnikord (5–29%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Conductive deafness	Väga sageli (80–99%)
Low-set ears	Väga sageli (80–99%)
Chronic infections of the middle ear	Sageli (30–79%)
Hearing impairment	Sageli (30–79%)
Overfolded ears	Sageli (30–79%)
Small earlobe	Sageli (30–79%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Low muscle tone	Väga sageli (80–99%)
Intermittent involuntary muscle spasm	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Abnormality of the chest	Mõnikord (5–29%)
Arthritis	Mõnikord (5–29%)
Double-Jointed	Mõnikord (5–29%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Long slender fingers	Sageli (30–79%)
Club feet	Mõnikord (5–29%)
Dislocated kneecap	Mõnikord (5–29%)
Duplication of bones of the toes	Mõnikord (5–29%)
Extra finger	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Decreased immune function	Väga sageli (80–99%)
Acne	Sageli (30–79%)
Seborrheic dermatitis	Sageli (30–79%)
Asthma	Mõnikord (5–29%)
Autoimmunity	Mõnikord (5–29%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Abnormality of the pharynx	Väga sageli (80–99%)
Abnormal lung lobation	Mõnikord (5–29%)
Chronic pulmonary obstruction	Mõnikord (5–29%)
Partial or complete collapse of part or entire lung	Mõnikord (5–29%)
Softening of voice box tissue	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Blood spots	Mõnikord (5–29%)
Gastrointestinal bleeding	Mõnikord (5–29%)
Low platelet count	Mõnikord (5–29%)
Platelet abnormalities	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Short stature	Sageli (30–79%)
Faltering weight	Mõnikord (5–29%)
Obesity	Mõnikord (5–29%)
Prenatal growth deficiency	Mõnikord (5–29%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Decreased parathyroid hormone secretion	Sageli (30–79%)
Overactive thyroid	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)

Abnormal cellular phenotype

Trait	Kui sageli seda täheldatakse
Impaired T cell function	Sageli (30–79%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
High levels of amniotic fluid	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Patchy loss of skin color	Mõnikord (5–29%)

Abnormality of the voice

Trait	Kui sageli seda täheldatakse
Nasal speech	Väga sageli (80–99%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Muscle ache	Sageli (30–79%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Low blood calcium levels	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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