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Trăsături
Trăsături asociate cu PTEN
phosphatase and tensin homolog
Human Phenotype Ontology asociază 232 trăsături cu PTEN, 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 head or neck
Abnormality of the nervous system
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Epidermal nevus | Foarte des (80–99%) |
| Excessive wrinkled skin | Foarte des (80–99%) |
| Firm lump under the skin | Foarte des (80–99%) |
| Flat, discolored area of skin | Foarte des (80–99%) |
| Generalized hyperkeratosis | Foarte des (80–99%) |
| Irregular hyperpigmentation | Foarte des (80–99%) |
| Mole | Foarte des (80–99%) |
| Papilloma | Foarte des (80–99%) |
| Papule | Foarte des (80–99%) |
| Skin cancer | Foarte des (80–99%) |
| Subcutaneous lipoma | Foarte des (80–99%) |
| Acrokeratosis | Des (30–79%) |
| Beauty mark | Des (30–79%) |
| Coarse hair | Des (30–79%) |
| Hanging skin | Des (30–79%) |
| Shagreen patch | Des (30–79%) |
| Trichilemmoma | Des (30–79%) |
| Birthmark | Uneori (5–29%) |
| Multiple birthmarks | Uneori (5–29%) |
| Numerous moles | Uneori (5–29%) |
| Patchy loss of skin color | Uneori (5–29%) |
| Skin tags | Neînregistrat |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Arteriovenous malformation | Foarte des (80–99%) |
| Lymphangioma | Foarte des (80–99%) |
| Poorly functioning veins | Foarte des (80–99%) |
| Strawberry birthmark | Foarte des (80–99%) |
| Strawberry mark | Foarte des (80–99%) |
| Visceral angiomatosis | Foarte des (80–99%) |
| Collection of dilated blood vessels that forms mass | Des (30–79%) |
| Dilation of Virchow-Robin spaces | Des (30–79%) |
| Mucosal telangiectasiae | Des (30–79%) |
| Abnormality of the heart | Uneori (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Uneori (5–29%) |
| Angina pectoris | Uneori (5–29%) |
| Bulge in wall of large artery that carries blood away from heart | Uneori (5–29%) |
| Cardiac failure | Uneori (5–29%) |
| Cutis marmorata | Uneori (5–29%) |
| Enlarged thymus | Uneori (5–29%) |
| Increased spleen size | Uneori (5–29%) |
| Patent ductus arteriosus | Uneori (5–29%) |
| Spider veins | Uneori (5–29%) |
| Abnormality of the vasculature | Neînregistrat |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Bone overgrowth | Foarte des (80–99%) |
| Fatty lump | Foarte des (80–99%) |
| Double-Jointed | Des (30–79%) |
| Formation of new noncancerous bone on top of existing bone | Des (30–79%) |
| Funnel chest | Des (30–79%) |
| Low muscle tone | Des (30–79%) |
| Low solidness and mass of the bones | Des (30–79%) |
| Scoliosis | Des (30–79%) |
| Abdominal wall muscle weakness | Uneori (5–29%) |
| Abnormal skeletal development | Uneori (5–29%) |
| Bone cyst | Uneori (5–29%) |
| Delayed bone maturation | Uneori (5–29%) |
| Generalized decreased muscle tone | Uneori (5–29%) |
| Hunched back | Uneori (5–29%) |
| Multiple fatty lumps | Uneori (5–29%) |
| Muscle degeneration | Uneori (5–29%) |
| Muscle tissue disease | Uneori (5–29%) |
| Muscle weakness | Uneori (5–29%) |
| Recurrent fractures | Uneori (5–29%) |
| Underdeveloped middle portion of the collarbone | Uneori (5–29%) |
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormal fallopian tube morphology | Foarte des (80–99%) |
| Ovarian cancer | Foarte des (80–99%) |
| Abnormality of the penis | Des (30–79%) |
| Hydrocele testis | Des (30–79%) |
| Penile freckling | Des (30–79%) |
| Abnormality of the kidney | Uneori (5–29%) |
| Abnormality of the uterus | Uneori (5–29%) |
| Cancer starting in small tubes in kidneys | Uneori (5–29%) |
| Endometrial carcinoma | Uneori (5–29%) |
| Enlarged ovaries with cysts | Uneori (5–29%) |
| Freckled genitalia | Uneori (5–29%) |
| Polycystic ovaries | Uneori (5–29%) |
| Prostate cancer | Uneori (5–29%) |
| Uterine cancer | Uneori (5–29%) |
| Ovarian carcinoma | Neînregistrat |
| Ovarian cyst | Neînregistrat |
| Transitional cell carcinoma of the bladder | Neînregistrat |
| Varicocele | Neînregistrat |
Abnormality of the digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Adenomatous colonic polyposis | Întotdeauna |
| Abnormality of the large intestine | Foarte des (80–99%) |
| Colorectal polyposis | Foarte des (80–99%) |
| Diarrhea | Foarte des (80–99%) |
| Growths in inner lining of intestine | Foarte des (80–99%) |
| Hamartomatous polyposis | Foarte des (80–99%) |
| Nausea and vomiting | Foarte des (80–99%) |
| Primary peritoneal carcinoma | Foarte des (80–99%) |
| Abdominal pain | Des (30–79%) |
| Protein-losing enteropathy | Des (30–79%) |
| Cancer of the pancreas | Uneori (5–29%) |
| Intussusception | Uneori (5–29%) |
| Rectum protrudes through anus | Uneori (5–29%) |
| Enlarged liver | Rar (1–4%) |
| Lymphoid nodular hyperplasia | Rar (1–4%) |
| Colonic diverticula | Neînregistrat |
Abnormality of limbs
| Trăsătură | Cât de frecvent apare |
|---|---|
| Back knee | Foarte des (80–99%) |
| Extra finger | Foarte des (80–99%) |
| Left and right leg differ in length or width | Foarte des (80–99%) |
| Thickening of palms and soles | Foarte des (80–99%) |
| Unequal size of arms | Foarte des (80–99%) |
| Broad thumb | Uneori (5–29%) |
| Clubbing of fingers | Uneori (5–29%) |
| Short fingers or toes | Uneori (5–29%) |
| Talipes | Uneori (5–29%) |
| Wide toe bones | Uneori (5–29%) |
| Duplication of bones of the toes | Rar (1–4%) |
| Extra thumb | Rar (1–4%) |
| Thickening of the outer layer of the skin of the palms and soles | Neînregistrat |
Abnormality of the endocrine system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Enlarged thyroid gland in neck | Foarte des (80–99%) |
| Abnormality of the parathyroid gland | Des (30–79%) |
| Abnormality of the thyroid gland | Des (30–79%) |
| Neoplasm of the thyroid gland | Des (30–79%) |
| Follicular thyroid carcinoma | Uneori (5–29%) |
| Hashimoto thyroiditis | Uneori (5–29%) |
| Neoplasm of the adrenal cortex | Uneori (5–29%) |
| Thyroid carcinoma | Uneori (5–29%) |
| Hurthle cell thyroid adenoma | Rar (1–4%) |
| Overactive thyroid | Neînregistrat |
| Thyroid adenoma | Neînregistrat |
| Thyroid gland inflammation | Neînregistrat |
| Underactive thyroid | Neînregistrat |
Abnormality of blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Gastrointestinal bleeding | Foarte des (80–99%) |
| Low number of red blood cells or hemoglobin | Foarte des (80–99%) |
| Black feces | Des (30–79%) |
| Bleeding below the skin | Des (30–79%) |
| Bleeding tendency | Des (30–79%) |
| Rectal bleeding | Des (30–79%) |
| Refractory anemia | Des (30–79%) |
| Bleeding within the skull | Uneori (5–29%) |
| Cancer of lymphatic system | Uneori (5–29%) |
| Intestinal bleeding | Uneori (5–29%) |
| Decreased blood lymphocyte number | Rar (1–4%) |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the pupil | Foarte des (80–99%) |
| Close sighted | Foarte des (80–99%) |
| Clouding of the lens of the eye | Des (30–79%) |
| Different colored eyes | Des (30–79%) |
| Retinal detachment | Des (30–79%) |
| Wide-set eyes | Des (30–79%) |
| Optic nerve issue | Uneori (5–29%) |
| Angioid streaks | Neînregistrat |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Short stature | Foarte des (80–99%) |
| Birth weight > 90th percentile | Des (30–79%) |
| General overgrowth | Des (30–79%) |
| Wasting syndrome | Des (30–79%) |
| Faltering weight | Uneori (5–29%) |
| Tall stature | Uneori (5–29%) |
| Obesity | Neînregistrat |
Abnormal tissue mass
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormal tissue mass | Des (30–79%) |
| Fibroma | Des (30–79%) |
| Hamartoma | Des (30–79%) |
| Cancer of skin pigment cells | Uneori (5–29%) |
| Carcinoma | Neînregistrat |
Abnormality of the breast
| Trăsătură | Cât de frecvent apare |
|---|---|
| Breast cancer | Foarte des (80–99%) |
| Breast tumor | Foarte des (80–99%) |
| Fibroadenoma of the breast | Des (30–79%) |
| Enlarged male breast | Uneori (5–29%) |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Recurrent middle ear infection | Des (30–79%) |
| Hearing impairment | Uneori (5–29%) |
| Large ears | Uneori (5–29%) |
| Low-set ears | Uneori (5–29%) |
Laboratory abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Low albumin | Des (30–79%) |
| Low blood sugar | Uneori (5–29%) |
| Swelling caused by excess lymph fluid under skin | Uneori (5–29%) |
| Fatty infiltration of liver | Rar (1–4%) |
Abnormality of the immune system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Cellular immunodeficiency | Uneori (5–29%) |
| Recurrent infections | Rar (1–4%) |
Abnormal cellular phenotype
| Trăsătură | Cât de frecvent apare |
|---|---|
| Decreased circulating antibody level | Rar (1–4%) |
Abnormality of the respiratory system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Bronchogenic cyst | 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 PTEN și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
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ConectareÎntrebațiSecvențiați-vă genomul↗
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