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	Hvor ofte den forekommer
Cardiac failure	Alltid
Cutis marmorata	Alltid
Impaired myocardial contractility	Alltid
Paroxysmal atrial fibrillation	Alltid
Stretched and thinned heart muscle	Alltid
Ventricular tachycardia	Alltid
Enlarged heart	Svært ofte (80–99 %)
Left ventricular systolic dysfunction	Svært ofte (80–99 %)
Abnormal heart rate	Ofte (30–79 %)
Complete right bundle branch block	Ofte (30–79 %)
Fainting spell	Ofte (30–79 %)
Heart stops beating	Ofte (30–79 %)
Palpitations	Ofte (30–79 %)
Patent ductus arteriosus	Ofte (30–79 %)
Quivering upper heart chambers resulting in irregular heartbeat	Ofte (30–79 %)
ST segment elevation	Ofte (30–79 %)
Abnormal heart valve morphology	Noen ganger (5–29 %)
Elevated heart rate	Noen ganger (5–29 %)
Enlarged and thickened heart muscle	Noen ganger (5–29 %)
First degree atrioventricular block	Noen ganger (5–29 %)
Heart attack	Noen ganger (5–29 %)
Paroxysmal ventricular tachycardia	Noen ganger (5–29 %)
Sick sinus syndrome	Noen ganger (5–29 %)
Supraventricular tachycardia	Noen ganger (5–29 %)
Ventricular fibrillation	Noen ganger (5–29 %)
Trifascicular block	Sjelden (1–4%)
Ventricular arrhythmia	Sjelden (1–4%)
Aortic valve has two leaflets rather than three	Ikke registrert
Congenital hypertrophy of left ventricle	Ikke registrert
Fluid around heart	Ikke registrert

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Prominent brow	Alltid
Thin red part of the upper lip	Alltid
Coarse facial features	Svært ofte (80–99 %)
Curly eyelashes	Svært ofte (80–99 %)
Flat face	Svært ofte (80–99 %)
Full lips	Svært ofte (80–99 %)
Long eyelashes	Svært ofte (80–99 %)
Long philtrum	Svært ofte (80–99 %)
Low frontal hairline	Svært ofte (80–99 %)
Low hairline at back of neck	Svært ofte (80–99 %)
Thick eyebrow	Svært ofte (80–99 %)
Wide mouth	Svært ofte (80–99 %)
Bad bite	Ofte (30–79 %)
Big calvaria	Ofte (30–79 %)
Broad nasal tip	Ofte (30–79 %)
Central incisor gap	Ofte (30–79 %)
Eye folds	Ofte (30–79 %)
Increased size of incisor	Ofte (30–79 %)
Nasal tip, upturned	Ofte (30–79 %)
Short neck	Ofte (30–79 %)
Wide nasal bridge	Ofte (30–79 %)
Big sella turcica	Ikke registrert
Depressed nasal bridge	Ikke registrert
Enlarged posterior fossa	Ikke registrert
Full lower lip	Ikke registrert
Full upper lip	Ikke registrert
Gum enlargement	Ikke registrert
Prominent forehead	Ikke registrert

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Low muscle tone	Alltid
Abnormal skeletal development	Ofte (30–79 %)
Broad ribs	Ofte (30–79 %)
Cuboid-shaped vertebral bodies	Ofte (30–79 %)
Delayed bone maturation	Ofte (30–79 %)
Excessive inward curvature of lower spine	Ofte (30–79 %)
Flattened vertebrae	Ofte (30–79 %)
Narrow chest	Ofte (30–79 %)
Osteoporosis	Ofte (30–79 %)
Ovoid vertebral bodies	Ofte (30–79 %)
Advanced bone age	Noen ganger (5–29 %)
EMG abnormality	Noen ganger (5–29 %)
Loss of fat tissue in localized area	Noen ganger (5–29 %)
Muscle tissue disease	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Hypoplastic ischiopubic ramus	Ikke registrert

Abnormality of limbs

Trait	Hvor ofte den forekommer
Abnormality of the wide portion of a long bone	Svært ofte (80–99 %)
Coxa valga	Svært ofte (80–99 %)
Broad bone of big toe	Ofte (30–79 %)
Deep wrinkles in soles of feet	Ofte (30–79 %)
Short big toe	Ofte (30–79 %)
Short outermost finger bone	Ofte (30–79 %)
Shortening of the achilles tendon	Ofte (30–79 %)
Dislocated hip since birth	Noen ganger (5–29 %)
Finger syndactyly	Noen ganger (5–29 %)
Limited elbow extension	Noen ganger (5–29 %)
Broad big toe	Ikke registrert
Broad wide portion of long bone	Ikke registrert
Erlenmeyer flask shaped thighbone	Ikke registrert
Wide 1st long bone of foot	Ikke registrert

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Anxiety	Alltid
Balance impairment	Alltid
Pauses in breathing while sleeping	Alltid
Intellectual disability, mild	Ofte (30–79 %)
Overactive lower leg reflex	Ofte (30–79 %)
Periventricular white matter hyperintensities	Ofte (30–79 %)
Triceps hyperreflexia	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormally close eyes	Ofte (30–79 %)
Esodeviation	Noen ganger (5–29 %)
Heterotropia	Noen ganger (5–29 %)
Involuntary, rapid, rhythmic eye movements	Noen ganger (5–29 %)
Inward turning cross eyed	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Excessive hairiness over body	Svært ofte (80–99 %)
Patchy hypopigmentation	Ofte (30–79 %)
Birthmark	Noen ganger (5–29 %)
Congenital, generalized hypertrichosis	Ikke registrert

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Breathing difficulty	Ofte (30–79 %)
Exertional breathlessness	Ofte (30–79 %)
Orthopnea	Ofte (30–79 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Fatigue	Alltid
Chest pain	Ofte (30–79 %)
Decreased ability to exercise	Ofte (30–79 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Thromboembolic stroke	Noen ganger (5–29 %)
Thromboembolism	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Dizziness	Ofte (30–79 %)
Sensorineural hearing impairment	Noen ganger (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte den forekommer
Baby eczema	Ofte (30–79 %)
Food allergy	Ofte (30–79 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Fluid retention	Ofte (30–79 %)
Swelling caused by excess lymph fluid under skin	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Umbilical hernia	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Birth weight > 90th percentile	Ikke registrert

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

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