AtlasPentru cine esteȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu SDCCAG8
SHH signaling and ciliogenesis regulator SDCCAG8
Human Phenotype Ontology asociază 117 trăsături cu SDCCAG8, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasPentru cine esteȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasPentru cine esteȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Nephronophthisis | Întotdeauna |
| Stage 5 chronic kidney disease | Întotdeauna |
| Chronic kidney disease | Foarte des (80–99%) |
| Abnormality of the genitourinary system | Des (30–79%) |
| Early menopause | 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%) |
| Absent kidney | Neînregistrat |
| Cystic kidney disease | Neînregistrat |
| Renal dysplasia | Neînregistrat |
| Renal failure | Neînregistrat |
| Underdevelopment of external reproductive organs | Neînregistrat |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Întotdeauna |
| Decreased clarity of vision | Întotdeauna |
| Rod-cone dystrophy | Întotdeauna |
| Abnormal retinal pigmentation | Foarte des (80–99%) |
| Cone/cone-rod dystrophy | Foarte des (80–99%) |
| Visual impairment | Foarte des (80–99%) |
| Abnormal color vision | Des (30–79%) |
| Abnormal electroretinogram | Des (30–79%) |
| Blindness | Des (30–79%) |
| Difficulties with night vision | Des (30–79%) |
| Extreme sensitivity of the eyes to light | Des (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Des (30–79%) |
| Progressive loss of vision | Des (30–79%) |
| Astigmatism | Uneori (5–29%) |
| Clouding of the lens of the eye | Uneori (5–29%) |
| Cross-eyed | Uneori (5–29%) |
| Wide-set eyes | Uneori (5–29%) |
| Retina degeneration | Neînregistrat |
Abnormality of the nervous system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Global developmental delay | Întotdeauna |
| Intellectual disability | Întotdeauna |
| Neurodevelopmental delay | Foarte des (80–99%) |
| Autism | Des (30–79%) |
| Behavioral abnormality | Des (30–79%) |
| Cognitive impairment | Des (30–79%) |
| Depression | Des (30–79%) |
| Intellectual disability, mild | 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%) |
| 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 digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the gastrointestinal tract | Uneori (5–29%) |
| Excessive buildup of connective tissue and scarring of liver at birth | 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 ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| 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%) |
| Recurrent middle ear infection | Neînregistrat |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of bone mineral density | Uneori (5–29%) |
| Cone-shaped end part of bone | Uneori (5–29%) |
| Double-Jointed | Uneori (5–29%) |
| Involuntary muscle stiffness, contraction, or spasm | Uneori (5–29%) |
| Muscle degeneration | Uneori (5–29%) |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| High blood pressure | Foarte des (80–99%) |
| Abnormality of the heart | Uneori (5–29%) |
| Disease of the heart muscle | 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 immune system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Recurrent respiratory infections | Des (30–79%) |
| Asthma | Uneori (5–29%) |
| Unusual bronchiolitis | Neînregistrat |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Obesity | Întotdeauna |
| Short stature | Întotdeauna |
| Childhood-onset truncal obesity | Foarte des (80–99%) |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Excessive hairiness over body | Uneori (5–29%) |
Abnormality of the respiratory system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Breathing difficulties | Neînregistrat |
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 SDCCAG8 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
AtlasPentru cine esteȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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