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PrisijungtiKlaustiSekvenuokite savo genomą↗
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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PrisijungtiKlaustiSekvenuokite savo genomą↗
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PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of the genitourinary system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Nephronophthisis | Visada |
| Stage 5 chronic kidney disease | Visada |
| Chronic kidney disease | Labai dažnai (80–99%) |
| Abnormality of the genitourinary system | Dažnai (30–79%) |
| Early menopause | Dažnai (30–79%) |
| Underdeveloped ovary | Dažnai (30–79%) |
| Underdeveloped penis | Dažnai (30–79%) |
| Absent/small vagina | Kartais (5–29%) |
| Decreased testicular size | Kartais (5–29%) |
| Horseshoe kidney | Kartais (5–29%) |
| Hydrometrocolpos | Kartais (5–29%) |
| Hydronephrosis | Kartais (5–29%) |
| Infertility | Kartais (5–29%) |
| Lack of bladder control due to nervous system injury | Kartais (5–29%) |
| Menstrual irregularity | Kartais (5–29%) |
| Multiple kidney cysts | Kartais (5–29%) |
| Nephrotic syndrome | Kartais (5–29%) |
| Polycystic ovaries | Kartais (5–29%) |
| Undescended testes | Kartais (5–29%) |
| Vesicoureteral reflux | Kartais (5–29%) |
| Absent kidney | Neužfiksuota |
| Cystic kidney disease | Neužfiksuota |
| Renal dysplasia | Neužfiksuota |
| Renal failure | Neužfiksuota |
| Underdevelopment of external reproductive organs | Neužfiksuota |
Abnormality of the eye
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Visada |
| Decreased clarity of vision | Visada |
| Rod-cone dystrophy | Visada |
| Abnormal retinal pigmentation | Labai dažnai (80–99%) |
| Cone/cone-rod dystrophy | Labai dažnai (80–99%) |
| Visual impairment | Labai dažnai (80–99%) |
| Abnormal color vision | Dažnai (30–79%) |
| Abnormal electroretinogram | Dažnai (30–79%) |
| Blindness | Dažnai (30–79%) |
| Difficulties with night vision | Dažnai (30–79%) |
| Extreme sensitivity of the eyes to light | Dažnai (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Dažnai (30–79%) |
| Progressive loss of vision | Dažnai (30–79%) |
| Astigmatism | Kartais (5–29%) |
| Clouding of the lens of the eye | Kartais (5–29%) |
| Cross-eyed | Kartais (5–29%) |
| Wide-set eyes | Kartais (5–29%) |
| Retina degeneration | Neužfiksuota |
Abnormality of the nervous system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Global developmental delay | Visada |
| Intellectual disability | Visada |
| Neurodevelopmental delay | Labai dažnai (80–99%) |
| Autism | Dažnai (30–79%) |
| Behavioral abnormality | Dažnai (30–79%) |
| Cognitive impairment | Dažnai (30–79%) |
| Depression | Dažnai (30–79%) |
| Intellectual disability, mild | Dažnai (30–79%) |
| Short attention span | Dažnai (30–79%) |
| Specific learning disability | Dažnai (30–79%) |
| Abnormal speech pattern | Kartais (5–29%) |
| Anxiety | Kartais (5–29%) |
| Ataxia | Kartais (5–29%) |
| Breathy speech | Kartais (5–29%) |
| Can't control feelings | Kartais (5–29%) |
| Delayed speech and language development | Kartais (5–29%) |
| Epilepsy | Kartais (5–29%) |
Abnormality of head or neck
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the oral cavity | Dažnai (30–79%) |
| Abnormality of the sense of smell | Dažnai (30–79%) |
| Dental crowding | Dažnai (30–79%) |
| Failure of development of between one and six teeth | Dažnai (30–79%) |
| High palate | Dažnai (30–79%) |
| Decreased size of tooth | Kartais (5–29%) |
| Depressed nasal bridge | Kartais (5–29%) |
| Downward slanting of the opening between the eyelids | Kartais (5–29%) |
| Long philtrum | Kartais (5–29%) |
| Medial flaring of the eyebrow | Kartais (5–29%) |
| Nasal inflammation | Kartais (5–29%) |
| Prominent nasal bridge | Kartais (5–29%) |
| Receding chin | Kartais (5–29%) |
| Short neck | Kartais (5–29%) |
Laboratory abnormality
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Decreased circulating high-density lipoprotein cholesterol | Dažnai (30–79%) |
| High liver enzymes | Dažnai (30–79%) |
| Impaired fasting glucose | Dažnai (30–79%) |
| Increased plasma triglycerides | Dažnai (30–79%) |
| Body fails to respond to insulin | Kartais (5–29%) |
| Fatty infiltration of liver | Kartais (5–29%) |
| Noninsulin-dependent diabetes | Kartais (5–29%) |
Abnormality of limbs
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Postaxial polydactyly | Dažnai (30–79%) |
| Short fingers or toes | Dažnai (30–79%) |
| Club feet | Kartais (5–29%) |
| Finger syndactyly | Kartais (5–29%) |
| Webbed fingers or toes | Kartais (5–29%) |
| Curvature of outermost bone of little finger | Retai (1–4 %) |
Abnormality of the digestive system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the gastrointestinal tract | Kartais (5–29%) |
| Excessive buildup of connective tissue and scarring of liver at birth | Kartais (5–29%) |
| Hepatic fibrosis | Kartais (5–29%) |
| Celiac disease | Retai (1–4 %) |
| Enlarged colon lacking nerve cells | Retai (1–4 %) |
| Inflammation of the large intestine | Retai (1–4 %) |
Abnormality of the ear
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Ears rotated toward back of head | Kartais (5–29%) |
| Hearing impairment | Kartais (5–29%) |
| Large ears | Kartais (5–29%) |
| Middle ear infection | Kartais (5–29%) |
| Recurrent middle ear infection | Neužfiksuota |
Abnormality of the musculoskeletal system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of bone mineral density | Kartais (5–29%) |
| Cone-shaped end part of bone | Kartais (5–29%) |
| Double-Jointed | Kartais (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Kartais (5–29%) |
| Muscle degeneration | Kartais (5–29%) |
Abnormality of the cardiovascular system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| High blood pressure | Labai dažnai (80–99%) |
| Abnormality of the heart | Kartais (5–29%) |
| Disease of the heart muscle | Retai (1–4 %) |
Abnormality of the endocrine system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Decreased activity of gonads | Dažnai (30–79%) |
| Abnormality of the endocrine system | Kartais (5–29%) |
| Underactive thyroid | Kartais (5–29%) |
Abnormality of the immune system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Recurrent respiratory infections | Dažnai (30–79%) |
| Asthma | Kartais (5–29%) |
| Unusual bronchiolitis | Neužfiksuota |
Growth abnormality
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Obesity | Visada |
| Short stature | Visada |
| Childhood-onset truncal obesity | Labai dažnai (80–99%) |
Abnormality of the integument
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Excessive hairiness over body | Kartais (5–29%) |
Abnormality of the respiratory system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Breathing difficulties | 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 SDCCAG8 and how often each is seen. Find out more at hpo.jax.org.
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