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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.
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PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of the cardiovascular system
Abnormality of head or neck
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Prominent brow | Visada |
| Thin red part of the upper lip | Visada |
| Coarse facial features | Labai dažnai (80–99%) |
| Curly eyelashes | Labai dažnai (80–99%) |
| Flat face | Labai dažnai (80–99%) |
| Full lips | Labai dažnai (80–99%) |
| Long eyelashes | Labai dažnai (80–99%) |
| Long philtrum | Labai dažnai (80–99%) |
| Low frontal hairline | Labai dažnai (80–99%) |
| Low hairline at back of neck | Labai dažnai (80–99%) |
| Thick eyebrow | Labai dažnai (80–99%) |
| Wide mouth | Labai dažnai (80–99%) |
| Bad bite | Dažnai (30–79%) |
| Big calvaria | Dažnai (30–79%) |
| Broad nasal tip | Dažnai (30–79%) |
| Central incisor gap | Dažnai (30–79%) |
| Eye folds | Dažnai (30–79%) |
| Increased size of incisor | Dažnai (30–79%) |
| Nasal tip, upturned | Dažnai (30–79%) |
| Short neck | Dažnai (30–79%) |
| Wide nasal bridge | Dažnai (30–79%) |
| Big sella turcica | Neužfiksuota |
| Depressed nasal bridge | Neužfiksuota |
| Enlarged posterior fossa | Neužfiksuota |
| Full lower lip | Neužfiksuota |
| Full upper lip | Neužfiksuota |
| Gum enlargement | Neužfiksuota |
| Prominent forehead | Neužfiksuota |
Abnormality of the musculoskeletal system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Low muscle tone | Visada |
| Abnormal skeletal development | Dažnai (30–79%) |
| Broad ribs | Dažnai (30–79%) |
| Cuboid-shaped vertebral bodies | Dažnai (30–79%) |
| Delayed bone maturation | Dažnai (30–79%) |
| Excessive inward curvature of lower spine | Dažnai (30–79%) |
| Flattened vertebrae | Dažnai (30–79%) |
| Narrow chest | Dažnai (30–79%) |
| Osteoporosis | Dažnai (30–79%) |
| Ovoid vertebral bodies | Dažnai (30–79%) |
| Advanced bone age | Kartais (5–29%) |
| EMG abnormality | Kartais (5–29%) |
| Loss of fat tissue in localized area | Kartais (5–29%) |
| Muscle tissue disease | Kartais (5–29%) |
| Scoliosis | Kartais (5–29%) |
| Hypoplastic ischiopubic ramus | Neužfiksuota |
Abnormality of limbs
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the wide portion of a long bone | Labai dažnai (80–99%) |
| Coxa valga | Labai dažnai (80–99%) |
| Broad bone of big toe | Dažnai (30–79%) |
| Deep wrinkles in soles of feet | Dažnai (30–79%) |
| Short big toe | Dažnai (30–79%) |
| Short outermost finger bone | Dažnai (30–79%) |
| Shortening of the achilles tendon | Dažnai (30–79%) |
| Dislocated hip since birth | Kartais (5–29%) |
| Finger syndactyly | Kartais (5–29%) |
| Limited elbow extension | Kartais (5–29%) |
| Broad big toe | Neužfiksuota |
| Broad wide portion of long bone | Neužfiksuota |
| Erlenmeyer flask shaped thighbone | Neužfiksuota |
| Wide 1st long bone of foot | Neužfiksuota |
Abnormality of the nervous system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Anxiety | Visada |
| Balance impairment | Visada |
| Pauses in breathing while sleeping | Visada |
| Intellectual disability, mild | Dažnai (30–79%) |
| Overactive lower leg reflex | Dažnai (30–79%) |
| Periventricular white matter hyperintensities | Dažnai (30–79%) |
| Triceps hyperreflexia | Kartais (5–29%) |
Abnormality of the eye
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormally close eyes | Dažnai (30–79%) |
| Esodeviation | Kartais (5–29%) |
| Heterotropia | Kartais (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Kartais (5–29%) |
| Inward turning cross eyed | Kartais (5–29%) |
Abnormality of the integument
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Excessive hairiness over body | Labai dažnai (80–99%) |
| Patchy hypopigmentation | Dažnai (30–79%) |
| Birthmark | Kartais (5–29%) |
| Congenital, generalized hypertrichosis | Neužfiksuota |
Abnormality of the respiratory system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Breathing difficulty | Dažnai (30–79%) |
| Exertional breathlessness | Dažnai (30–79%) |
| Orthopnea | Dažnai (30–79%) |
Constitutional symptom
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Fatigue | Visada |
| Chest pain | Dažnai (30–79%) |
| Decreased ability to exercise | Dažnai (30–79%) |
Abnormality of blood and blood-forming tissues
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Thromboembolic stroke | Kartais (5–29%) |
| Thromboembolism | Kartais (5–29%) |
Abnormality of the ear
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Dizziness | Dažnai (30–79%) |
| Sensorineural hearing impairment | Kartais (5–29%) |
Abnormality of the immune system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Baby eczema | Dažnai (30–79%) |
| Food allergy | Dažnai (30–79%) |
Laboratory abnormality
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Fluid retention | Dažnai (30–79%) |
| Swelling caused by excess lymph fluid under skin | Neužfiksuota |
Abnormality of the digestive system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Umbilical hernia | Dažnai (30–79%) |
Growth abnormality
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Birth weight > 90th percentile | Neužfiksuota |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Iš kur tai žinoma
- 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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