AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu SCAPER
S-phase cyclin A associated protein in the ER
Human Phenotype Ontology asociază 123 trăsături cu SCAPER, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the eye
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the genitourinary system | Des (30–79%) |
| Chronic kidney disease | Des (30–79%) |
| Underdeveloped ovary | Des (30–79%) |
| Underdeveloped penis | Des (30–79%) |
| Absent/small vagina | Uneori (5–29%) |
| Decreased testicular size | Uneori (5–29%) |
| Horseshoe kidney | Uneori (5–29%) |
| Hydrometrocolpos | Uneori (5–29%) |
| Hydronephrosis | Uneori (5–29%) |
| Infertility | Uneori (5–29%) |
| Lack of bladder control due to nervous system injury | Uneori (5–29%) |
| Menstrual irregularity | Uneori (5–29%) |
| Multiple kidney cysts | Uneori (5–29%) |
| Nephrotic syndrome | Uneori (5–29%) |
| Polycystic ovaries | Uneori (5–29%) |
| Undescended testes | Uneori (5–29%) |
| Vesicoureteral reflux | Uneori (5–29%) |
Abnormality of the nervous system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Intellectual disability | Întotdeauna |
| Neurodevelopmental delay | Foarte des (80–99%) |
| Attention deficit | Des (30–79%) |
| Autism | Des (30–79%) |
| Behavioral abnormality | Des (30–79%) |
| Cognitive impairment | Des (30–79%) |
| Depression | Des (30–79%) |
| Short attention span | Des (30–79%) |
| Specific learning disability | Des (30–79%) |
| Abnormal speech pattern | Uneori (5–29%) |
| Anxiety | Uneori (5–29%) |
| Ataxia | Uneori (5–29%) |
| Breathy speech | Uneori (5–29%) |
| Can't control feelings | Uneori (5–29%) |
| Delayed speech and language development | Uneori (5–29%) |
| Epilepsy | Uneori (5–29%) |
Abnormality of head or neck
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the oral cavity | Des (30–79%) |
| Abnormality of the sense of smell | Des (30–79%) |
| Dental crowding | Des (30–79%) |
| Failure of development of between one and six teeth | Des (30–79%) |
| High palate | Des (30–79%) |
| Decreased size of tooth | Uneori (5–29%) |
| Depressed nasal bridge | Uneori (5–29%) |
| Downward slanting of the opening between the eyelids | Uneori (5–29%) |
| Long philtrum | Uneori (5–29%) |
| Medial flaring of the eyebrow | Uneori (5–29%) |
| Nasal inflammation | Uneori (5–29%) |
| Prominent nasal bridge | Uneori (5–29%) |
| Receding chin | Uneori (5–29%) |
| Short neck | Uneori (5–29%) |
Laboratory abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Decreased circulating high-density lipoprotein cholesterol | Des (30–79%) |
| High liver enzymes | Des (30–79%) |
| Hyperinsulinemia | Des (30–79%) |
| Impaired fasting glucose | Des (30–79%) |
| Increased plasma triglycerides | Des (30–79%) |
| Body fails to respond to insulin | Uneori (5–29%) |
| Fatty infiltration of liver | Uneori (5–29%) |
| Noninsulin-dependent diabetes | Uneori (5–29%) |
Abnormality of limbs
| Trăsătură | Cât de frecvent apare |
|---|---|
| Postaxial polydactyly | Des (30–79%) |
| Short fingers or toes | Des (30–79%) |
| Club feet | Uneori (5–29%) |
| Finger syndactyly | Uneori (5–29%) |
| Webbed fingers or toes | Uneori (5–29%) |
| Curvature of outermost bone of little finger | Rar (1–4%) |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Conductive deafness | Foarte des (80–99%) |
| Sensorineural hearing impairment | Foarte des (80–99%) |
| Ears rotated toward back of head | Uneori (5–29%) |
| Hearing impairment | Uneori (5–29%) |
| Large ears | Uneori (5–29%) |
| Middle ear infection | Uneori (5–29%) |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Narrowing of blood vessels in back of eye | Întotdeauna |
| Abnormality of retina blood vessels | Foarte des (80–99%) |
| High blood pressure | Des (30–79%) |
| Abnormality of the heart | Uneori (5–29%) |
| Disease of the heart muscle | Rar (1–4%) |
Abnormality of the digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the gastrointestinal tract | Uneori (5–29%) |
| Hepatic fibrosis | Uneori (5–29%) |
| Celiac disease | Rar (1–4%) |
| Enlarged colon lacking nerve cells | Rar (1–4%) |
| Inflammation of the large intestine | Rar (1–4%) |
Abnormality of the endocrine system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Decreased activity of gonads | Des (30–79%) |
| Abnormality of the endocrine system | Uneori (5–29%) |
| Underactive thyroid | Uneori (5–29%) |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Double-Jointed | Uneori (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Uneori (5–29%) |
| Muscle degeneration | Uneori (5–29%) |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Childhood-onset truncal obesity | Foarte des (80–99%) |
| Obesity | Foarte des (80–99%) |
| Short stature | Des (30–79%) |
Abnormality of the immune system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Asthma | Uneori (5–29%) |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Excessive hairiness over body | Uneori (5–29%) |
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
- Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu SCAPER și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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