Traits

Traits linked to ABCC9

ATP binding cassette subfamily C member 9

The Human Phenotype Ontology links 120 traits to ABCC9, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Cardiac failure	Alati
Cutis marmorata	Alati
Impaired myocardial contractility	Alati
Paroxysmal atrial fibrillation	Alati
Stretched and thinned heart muscle	Alati
Ventricular tachycardia	Alati
Enlarged heart	Väga sageli (80–99%)
Left ventricular systolic dysfunction	Väga sageli (80–99%)
Abnormal heart rate	Sageli (30–79%)
Complete right bundle branch block	Sageli (30–79%)
Fainting spell	Sageli (30–79%)
Heart stops beating	Sageli (30–79%)
Palpitations	Sageli (30–79%)
Patent ductus arteriosus	Sageli (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Sageli (30–79%)
ST segment elevation	Sageli (30–79%)
Abnormal heart valve morphology	Mõnikord (5–29%)
Elevated heart rate	Mõnikord (5–29%)
Enlarged and thickened heart muscle	Mõnikord (5–29%)
First degree atrioventricular block	Mõnikord (5–29%)
Heart attack	Mõnikord (5–29%)
Paroxysmal ventricular tachycardia	Mõnikord (5–29%)
Sick sinus syndrome	Mõnikord (5–29%)
Supraventricular tachycardia	Mõnikord (5–29%)
Ventricular fibrillation	Mõnikord (5–29%)
Trifascicular block	Harva (1–4%)
Ventricular arrhythmia	Harva (1–4%)
Aortic valve has two leaflets rather than three	Pole registreeritud
Congenital hypertrophy of left ventricle	Pole registreeritud
Fluid around heart	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Prominent brow	Alati
Thin red part of the upper lip	Alati
Coarse facial features	Väga sageli (80–99%)
Curly eyelashes	Väga sageli (80–99%)
Flat face	Väga sageli (80–99%)
Full lips	Väga sageli (80–99%)
Long eyelashes	Väga sageli (80–99%)
Long philtrum	Väga sageli (80–99%)
Low frontal hairline	Väga sageli (80–99%)
Low hairline at back of neck	Väga sageli (80–99%)
Thick eyebrow	Väga sageli (80–99%)
Wide mouth	Väga sageli (80–99%)
Bad bite	Sageli (30–79%)
Big calvaria	Sageli (30–79%)
Broad nasal tip	Sageli (30–79%)
Central incisor gap	Sageli (30–79%)
Eye folds	Sageli (30–79%)
Increased size of incisor	Sageli (30–79%)
Nasal tip, upturned	Sageli (30–79%)
Short neck	Sageli (30–79%)
Wide nasal bridge	Sageli (30–79%)
Big sella turcica	Pole registreeritud
Depressed nasal bridge	Pole registreeritud
Enlarged posterior fossa	Pole registreeritud
Full lower lip	Pole registreeritud
Full upper lip	Pole registreeritud
Gum enlargement	Pole registreeritud
Prominent forehead	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Low muscle tone	Alati
Abnormal skeletal development	Sageli (30–79%)
Broad ribs	Sageli (30–79%)
Cuboid-shaped vertebral bodies	Sageli (30–79%)
Delayed bone maturation	Sageli (30–79%)
Excessive inward curvature of lower spine	Sageli (30–79%)
Flattened vertebrae	Sageli (30–79%)
Narrow chest	Sageli (30–79%)
Osteoporosis	Sageli (30–79%)
Ovoid vertebral bodies	Sageli (30–79%)
Advanced bone age	Mõnikord (5–29%)
EMG abnormality	Mõnikord (5–29%)
Loss of fat tissue in localized area	Mõnikord (5–29%)
Muscle tissue disease	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Hypoplastic ischiopubic ramus	Pole registreeritud

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Abnormality of the wide portion of a long bone	Väga sageli (80–99%)
Coxa valga	Väga sageli (80–99%)
Broad bone of big toe	Sageli (30–79%)
Deep wrinkles in soles of feet	Sageli (30–79%)
Short big toe	Sageli (30–79%)
Short outermost finger bone	Sageli (30–79%)
Shortening of the achilles tendon	Sageli (30–79%)
Dislocated hip since birth	Mõnikord (5–29%)
Finger syndactyly	Mõnikord (5–29%)
Limited elbow extension	Mõnikord (5–29%)
Broad big toe	Pole registreeritud
Broad wide portion of long bone	Pole registreeritud
Erlenmeyer flask shaped thighbone	Pole registreeritud
Wide 1st long bone of foot	Pole registreeritud

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Anxiety	Alati
Balance impairment	Alati
Pauses in breathing while sleeping	Alati
Intellectual disability, mild	Sageli (30–79%)
Overactive lower leg reflex	Sageli (30–79%)
Periventricular white matter hyperintensities	Sageli (30–79%)
Triceps hyperreflexia	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Abnormally close eyes	Sageli (30–79%)
Esodeviation	Mõnikord (5–29%)
Heterotropia	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Inward turning cross eyed	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Excessive hairiness over body	Väga sageli (80–99%)
Patchy hypopigmentation	Sageli (30–79%)
Birthmark	Mõnikord (5–29%)
Congenital, generalized hypertrichosis	Pole registreeritud

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Breathing difficulty	Sageli (30–79%)
Exertional breathlessness	Sageli (30–79%)
Orthopnea	Sageli (30–79%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Fatigue	Alati
Chest pain	Sageli (30–79%)
Decreased ability to exercise	Sageli (30–79%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Thromboembolic stroke	Mõnikord (5–29%)
Thromboembolism	Mõnikord (5–29%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Dizziness	Sageli (30–79%)
Sensorineural hearing impairment	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Baby eczema	Sageli (30–79%)
Food allergy	Sageli (30–79%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Fluid retention	Sageli (30–79%)
Swelling caused by excess lymph fluid under skin	Pole registreeritud

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Umbilical hernia	Sageli (30–79%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Birth weight > 90th percentile	Pole registreeritud

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 ABCC9 and how often each is seen. Find out more at hpo.jax.org.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test