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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.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the cardiovascular system
Abnormality of head or neck
| Trait | Cât de frecvent apare |
|---|---|
| Prominent brow | Întotdeauna |
| Thin red part of the upper lip | Întotdeauna |
| Coarse facial features | Foarte des (80–99%) |
| Curly eyelashes | Foarte des (80–99%) |
| Flat face | Foarte des (80–99%) |
| Full lips | Foarte des (80–99%) |
| Long eyelashes | Foarte des (80–99%) |
| Long philtrum | Foarte des (80–99%) |
| Low frontal hairline | Foarte des (80–99%) |
| Low hairline at back of neck | Foarte des (80–99%) |
| Thick eyebrow | Foarte des (80–99%) |
| Wide mouth | Foarte des (80–99%) |
| Bad bite | Des (30–79%) |
| Big calvaria | Des (30–79%) |
| Broad nasal tip | Des (30–79%) |
| Central incisor gap | Des (30–79%) |
| Eye folds | Des (30–79%) |
| Increased size of incisor | Des (30–79%) |
| Nasal tip, upturned | Des (30–79%) |
| Short neck | Des (30–79%) |
| Wide nasal bridge | Des (30–79%) |
| Big sella turcica | Neînregistrat |
| Depressed nasal bridge | Neînregistrat |
| Enlarged posterior fossa | Neînregistrat |
| Full lower lip | Neînregistrat |
| Full upper lip | Neînregistrat |
| Gum enlargement | Neînregistrat |
| Prominent forehead | Neînregistrat |
Abnormality of the musculoskeletal system
| Trait | Cât de frecvent apare |
|---|---|
| Low muscle tone | Întotdeauna |
| Abnormal skeletal development | Des (30–79%) |
| Broad ribs | Des (30–79%) |
| Cuboid-shaped vertebral bodies | Des (30–79%) |
| Delayed bone maturation | Des (30–79%) |
| Excessive inward curvature of lower spine | Des (30–79%) |
| Flattened vertebrae | Des (30–79%) |
| Narrow chest | Des (30–79%) |
| Osteoporosis | Des (30–79%) |
| Ovoid vertebral bodies | Des (30–79%) |
| Advanced bone age | Uneori (5–29%) |
| EMG abnormality | Uneori (5–29%) |
| Loss of fat tissue in localized area | Uneori (5–29%) |
| Muscle tissue disease | Uneori (5–29%) |
| Scoliosis | Uneori (5–29%) |
| Hypoplastic ischiopubic ramus | Neînregistrat |
Abnormality of limbs
| Trait | Cât de frecvent apare |
|---|---|
| Abnormality of the wide portion of a long bone | Foarte des (80–99%) |
| Coxa valga | Foarte des (80–99%) |
| Broad bone of big toe | Des (30–79%) |
| Deep wrinkles in soles of feet | Des (30–79%) |
| Short big toe | Des (30–79%) |
| Short outermost finger bone | Des (30–79%) |
| Shortening of the achilles tendon | Des (30–79%) |
| Dislocated hip since birth | Uneori (5–29%) |
| Finger syndactyly | Uneori (5–29%) |
| Limited elbow extension | Uneori (5–29%) |
| Broad big toe | Neînregistrat |
| Broad wide portion of long bone | Neînregistrat |
| Erlenmeyer flask shaped thighbone | Neînregistrat |
| Wide 1st long bone of foot | Neînregistrat |
Abnormality of the nervous system
| Trait | Cât de frecvent apare |
|---|---|
| Anxiety | Întotdeauna |
| Balance impairment | Întotdeauna |
| Pauses in breathing while sleeping | Întotdeauna |
| Intellectual disability, mild | Des (30–79%) |
| Overactive lower leg reflex | Des (30–79%) |
| Periventricular white matter hyperintensities | Des (30–79%) |
| Triceps hyperreflexia | Uneori (5–29%) |
Abnormality of the eye
| Trait | Cât de frecvent apare |
|---|---|
| Abnormally close eyes | Des (30–79%) |
| Esodeviation | Uneori (5–29%) |
| Heterotropia | Uneori (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Uneori (5–29%) |
| Inward turning cross eyed | Uneori (5–29%) |
Abnormality of the integument
| Trait | Cât de frecvent apare |
|---|---|
| Excessive hairiness over body | Foarte des (80–99%) |
| Patchy hypopigmentation | Des (30–79%) |
| Birthmark | Uneori (5–29%) |
| Congenital, generalized hypertrichosis | Neînregistrat |
Abnormality of the respiratory system
| Trait | Cât de frecvent apare |
|---|---|
| Breathing difficulty | Des (30–79%) |
| Exertional breathlessness | Des (30–79%) |
| Orthopnea | Des (30–79%) |
Constitutional symptom
| Trait | Cât de frecvent apare |
|---|---|
| Fatigue | Întotdeauna |
| Chest pain | Des (30–79%) |
| Decreased ability to exercise | Des (30–79%) |
Abnormality of blood and blood-forming tissues
| Trait | Cât de frecvent apare |
|---|---|
| Thromboembolic stroke | Uneori (5–29%) |
| Thromboembolism | Uneori (5–29%) |
Abnormality of the ear
| Trait | Cât de frecvent apare |
|---|---|
| Dizziness | Des (30–79%) |
| Sensorineural hearing impairment | Uneori (5–29%) |
Abnormality of the immune system
| Trait | Cât de frecvent apare |
|---|---|
| Baby eczema | Des (30–79%) |
| Food allergy | Des (30–79%) |
Laboratory abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Fluid retention | Des (30–79%) |
| Swelling caused by excess lymph fluid under skin | Neînregistrat |
Abnormality of the digestive system
| Trait | Cât de frecvent apare |
|---|---|
| Umbilical hernia | Des (30–79%) |
Growth abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Birth weight > 90th percentile | Neînregistrat |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- 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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