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Traits
Traits linked to SDCCAG8
SHH signaling and ciliogenesis regulator SDCCAG8
The Human Phenotype Ontology links 117 traits to SDCCAG8, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the genitourinary system
| Trait | Hvor ofte det ses |
|---|---|
| Nephronophthisis | Altid |
| Stage 5 chronic kidney disease | Altid |
| Chronic kidney disease | Meget ofte (80–99 %) |
| Abnormality of the genitourinary system | Ofte (30–79 %) |
| Early menopause | Ofte (30–79 %) |
| Underdeveloped ovary | Ofte (30–79 %) |
| Underdeveloped penis | Ofte (30–79 %) |
| Absent/small vagina | Nogle gange (5–29 %) |
| Decreased testicular size | Nogle gange (5–29 %) |
| Horseshoe kidney | Nogle gange (5–29 %) |
| Hydrometrocolpos | Nogle gange (5–29 %) |
| Hydronephrosis | Nogle gange (5–29 %) |
| Infertility | Nogle gange (5–29 %) |
| Lack of bladder control due to nervous system injury | Nogle gange (5–29 %) |
| Menstrual irregularity | Nogle gange (5–29 %) |
| Multiple kidney cysts | Nogle gange (5–29 %) |
| Nephrotic syndrome | Nogle gange (5–29 %) |
| Polycystic ovaries | Nogle gange (5–29 %) |
| Undescended testes | Nogle gange (5–29 %) |
| Vesicoureteral reflux | Nogle gange (5–29 %) |
| Absent kidney | Ikke registreret |
| Cystic kidney disease | Ikke registreret |
| Renal dysplasia | Ikke registreret |
| Renal failure | Ikke registreret |
| Underdevelopment of external reproductive organs | Ikke registreret |
Abnormality of the eye
| Trait | Hvor ofte det ses |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Altid |
| Decreased clarity of vision | Altid |
| Rod-cone dystrophy | Altid |
| Abnormal retinal pigmentation | Meget ofte (80–99 %) |
| Cone/cone-rod dystrophy | Meget ofte (80–99 %) |
| Visual impairment | Meget ofte (80–99 %) |
| Abnormal color vision | Ofte (30–79 %) |
| Abnormal electroretinogram | Ofte (30–79 %) |
| Blindness | Ofte (30–79 %) |
| Difficulties with night vision | Ofte (30–79 %) |
| Extreme sensitivity of the eyes to light | Ofte (30–79 %) |
| Involuntary, rapid, rhythmic eye movements | Ofte (30–79 %) |
| Progressive loss of vision | Ofte (30–79 %) |
| Astigmatism | Nogle gange (5–29 %) |
| Clouding of the lens of the eye | Nogle gange (5–29 %) |
| Cross-eyed | Nogle gange (5–29 %) |
| Wide-set eyes | Nogle gange (5–29 %) |
| Retina degeneration | Ikke registreret |
Abnormality of the nervous system
| Trait | Hvor ofte det ses |
|---|---|
| Global developmental delay | Altid |
| Intellectual disability | Altid |
| Neurodevelopmental delay | Meget ofte (80–99 %) |
| Autism | Ofte (30–79 %) |
| Behavioral abnormality | Ofte (30–79 %) |
| Cognitive impairment | Ofte (30–79 %) |
| Depression | Ofte (30–79 %) |
| Intellectual disability, mild | Ofte (30–79 %) |
| Short attention span | Ofte (30–79 %) |
| Specific learning disability | Ofte (30–79 %) |
| Abnormal speech pattern | Nogle gange (5–29 %) |
| Anxiety | Nogle gange (5–29 %) |
| Ataxia | Nogle gange (5–29 %) |
| Breathy speech | Nogle gange (5–29 %) |
| Can't control feelings | Nogle gange (5–29 %) |
| Delayed speech and language development | Nogle gange (5–29 %) |
| Epilepsy | Nogle gange (5–29 %) |
Abnormality of head or neck
| Trait | Hvor ofte det ses |
|---|---|
| Abnormality of the oral cavity | Ofte (30–79 %) |
| Abnormality of the sense of smell | Ofte (30–79 %) |
| Dental crowding | Ofte (30–79 %) |
| Failure of development of between one and six teeth | Ofte (30–79 %) |
| High palate | Ofte (30–79 %) |
| Decreased size of tooth | Nogle gange (5–29 %) |
| Depressed nasal bridge | Nogle gange (5–29 %) |
| Downward slanting of the opening between the eyelids | Nogle gange (5–29 %) |
| Long philtrum | Nogle gange (5–29 %) |
| Medial flaring of the eyebrow | Nogle gange (5–29 %) |
| Nasal inflammation | Nogle gange (5–29 %) |
| Prominent nasal bridge | Nogle gange (5–29 %) |
| Receding chin | Nogle gange (5–29 %) |
| Short neck | Nogle gange (5–29 %) |
Laboratory abnormality
| Trait | Hvor ofte det ses |
|---|---|
| Decreased circulating high-density lipoprotein cholesterol | Ofte (30–79 %) |
| High liver enzymes | Ofte (30–79 %) |
| Impaired fasting glucose | Ofte (30–79 %) |
| Increased plasma triglycerides | Ofte (30–79 %) |
| Body fails to respond to insulin | Nogle gange (5–29 %) |
| Fatty infiltration of liver | Nogle gange (5–29 %) |
| Noninsulin-dependent diabetes | Nogle gange (5–29 %) |
Abnormality of limbs
| Trait | Hvor ofte det ses |
|---|---|
| Postaxial polydactyly | Ofte (30–79 %) |
| Short fingers or toes | Ofte (30–79 %) |
| Club feet | Nogle gange (5–29 %) |
| Finger syndactyly | Nogle gange (5–29 %) |
| Webbed fingers or toes | Nogle gange (5–29 %) |
| Curvature of outermost bone of little finger | Sjældent (1–4%) |
Abnormality of the digestive system
| Trait | Hvor ofte det ses |
|---|---|
| Abnormality of the gastrointestinal tract | Nogle gange (5–29 %) |
| Excessive buildup of connective tissue and scarring of liver at birth | Nogle gange (5–29 %) |
| Hepatic fibrosis | Nogle gange (5–29 %) |
| Celiac disease | Sjældent (1–4%) |
| Enlarged colon lacking nerve cells | Sjældent (1–4%) |
| Inflammation of the large intestine | Sjældent (1–4%) |
Abnormality of the ear
| Trait | Hvor ofte det ses |
|---|---|
| Ears rotated toward back of head | Nogle gange (5–29 %) |
| Hearing impairment | Nogle gange (5–29 %) |
| Large ears | Nogle gange (5–29 %) |
| Middle ear infection | Nogle gange (5–29 %) |
| Recurrent middle ear infection | Ikke registreret |
Abnormality of the musculoskeletal system
| Trait | Hvor ofte det ses |
|---|---|
| Abnormality of bone mineral density | Nogle gange (5–29 %) |
| Cone-shaped end part of bone | Nogle gange (5–29 %) |
| Double-Jointed | Nogle gange (5–29 %) |
| Involuntary muscle stiffness, contraction, or spasm | Nogle gange (5–29 %) |
| Muscle degeneration | Nogle gange (5–29 %) |
Abnormality of the cardiovascular system
| Trait | Hvor ofte det ses |
|---|---|
| High blood pressure | Meget ofte (80–99 %) |
| Abnormality of the heart | Nogle gange (5–29 %) |
| Disease of the heart muscle | Sjældent (1–4%) |
Abnormality of the endocrine system
| Trait | Hvor ofte det ses |
|---|---|
| Decreased activity of gonads | Ofte (30–79 %) |
| Abnormality of the endocrine system | Nogle gange (5–29 %) |
| Underactive thyroid | Nogle gange (5–29 %) |
Abnormality of the immune system
| Trait | Hvor ofte det ses |
|---|---|
| Recurrent respiratory infections | Ofte (30–79 %) |
| Asthma | Nogle gange (5–29 %) |
| Unusual bronchiolitis | Ikke registreret |
Growth abnormality
| Trait | Hvor ofte det ses |
|---|---|
| Obesity | Altid |
| Short stature | Altid |
| Childhood-onset truncal obesity | Meget ofte (80–99 %) |
Abnormality of the integument
| Trait | Hvor ofte det ses |
|---|---|
| Excessive hairiness over body | Nogle gange (5–29 %) |
Abnormality of the respiratory system
| Trait | Hvor ofte det ses |
|---|---|
| Breathing difficulties | Ikke registreret |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Hvor oplysningerne kommer fra
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to SDCCAG8 and how often each is seen. Find out more at hpo.jax.org.
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