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Traits
Traits linked to SCAPER
S-phase cyclin A associated protein in the ER
The Human Phenotype Ontology links 123 traits to SCAPER, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the eye
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormality of the genitourinary system | Often (30–79%) |
| Chronic kidney disease | Often (30–79%) |
| Underdeveloped ovary | Often (30–79%) |
| Underdeveloped penis | Often (30–79%) |
| Absent/small vagina | Sometimes (5–29%) |
| Decreased testicular size | Sometimes (5–29%) |
| Horseshoe kidney | Sometimes (5–29%) |
| Hydrometrocolpos | Sometimes (5–29%) |
| Hydronephrosis | Sometimes (5–29%) |
| Infertility | Sometimes (5–29%) |
| Lack of bladder control due to nervous system injury | Sometimes (5–29%) |
| Menstrual irregularity | Sometimes (5–29%) |
| Multiple kidney cysts | Sometimes (5–29%) |
| Nephrotic syndrome | Sometimes (5–29%) |
| Polycystic ovaries | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
| Vesicoureteral reflux | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Intellectual disability | Always |
| Neurodevelopmental delay | Very often (80–99%) |
| Attention deficit | Often (30–79%) |
| Autism | Often (30–79%) |
| Behavioral abnormality | Often (30–79%) |
| Cognitive impairment | Often (30–79%) |
| Depression | Often (30–79%) |
| Short attention span | Often (30–79%) |
| Specific learning disability | Often (30–79%) |
| Abnormal speech pattern | Sometimes (5–29%) |
| Anxiety | Sometimes (5–29%) |
| Ataxia | Sometimes (5–29%) |
| Breathy speech | Sometimes (5–29%) |
| Can't control feelings | Sometimes (5–29%) |
| Delayed speech and language development | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormality of the oral cavity | Often (30–79%) |
| Abnormality of the sense of smell | Often (30–79%) |
| Dental crowding | Often (30–79%) |
| Failure of development of between one and six teeth | Often (30–79%) |
| High palate | Often (30–79%) |
| Decreased size of tooth | Sometimes (5–29%) |
| Depressed nasal bridge | Sometimes (5–29%) |
| Downward slanting of the opening between the eyelids | Sometimes (5–29%) |
| Long philtrum | Sometimes (5–29%) |
| Medial flaring of the eyebrow | Sometimes (5–29%) |
| Nasal inflammation | Sometimes (5–29%) |
| Prominent nasal bridge | Sometimes (5–29%) |
| Receding chin | Sometimes (5–29%) |
| Short neck | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Decreased circulating high-density lipoprotein cholesterol | Often (30–79%) |
| High liver enzymes | Often (30–79%) |
| Hyperinsulinemia | Often (30–79%) |
| Impaired fasting glucose | Often (30–79%) |
| Increased plasma triglycerides | Often (30–79%) |
| Body fails to respond to insulin | Sometimes (5–29%) |
| Fatty infiltration of liver | Sometimes (5–29%) |
| Noninsulin-dependent diabetes | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Postaxial polydactyly | Often (30–79%) |
| Short fingers or toes | Often (30–79%) |
| Club feet | Sometimes (5–29%) |
| Finger syndactyly | Sometimes (5–29%) |
| Webbed fingers or toes | Sometimes (5–29%) |
| Curvature of outermost bone of little finger | Rarely (1–4%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Conductive deafness | Very often (80–99%) |
| Sensorineural hearing impairment | Very often (80–99%) |
| Ears rotated toward back of head | Sometimes (5–29%) |
| Hearing impairment | Sometimes (5–29%) |
| Large ears | Sometimes (5–29%) |
| Middle ear infection | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Narrowing of blood vessels in back of eye | Always |
| Abnormality of retina blood vessels | Very often (80–99%) |
| High blood pressure | Often (30–79%) |
| Abnormality of the heart | Sometimes (5–29%) |
| Disease of the heart muscle | Rarely (1–4%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Abnormality of the gastrointestinal tract | Sometimes (5–29%) |
| Hepatic fibrosis | Sometimes (5–29%) |
| Celiac disease | Rarely (1–4%) |
| Enlarged colon lacking nerve cells | Rarely (1–4%) |
| Inflammation of the large intestine | Rarely (1–4%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Decreased activity of gonads | Often (30–79%) |
| Abnormality of the endocrine system | Sometimes (5–29%) |
| Underactive thyroid | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Double-Jointed | Sometimes (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Sometimes (5–29%) |
| Muscle degeneration | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Childhood-onset truncal obesity | Very often (80–99%) |
| Obesity | Very often (80–99%) |
| Short stature | Often (30–79%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Asthma | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Excessive hairiness over body | Sometimes (5–29%) |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to SCAPER and how often each is seen. Find out more at hpo.jax.org.
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