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Kenmerken
Kenmerken gekoppeld aan PTEN
phosphatase and tensin homolog
De Human Phenotype Ontology koppelt 232 kenmerken aan PTEN, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.
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Abnormality of head or neck
Abnormality of the nervous system
Abnormality of the integument
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Epidermal nevus | Heel vaak (80–99%) |
| Excessive wrinkled skin | Heel vaak (80–99%) |
| Firm lump under the skin | Heel vaak (80–99%) |
| Flat, discolored area of skin | Heel vaak (80–99%) |
| Generalized hyperkeratosis | Heel vaak (80–99%) |
| Irregular hyperpigmentation | Heel vaak (80–99%) |
| Mole | Heel vaak (80–99%) |
| Papilloma | Heel vaak (80–99%) |
| Papule | Heel vaak (80–99%) |
| Skin cancer | Heel vaak (80–99%) |
| Subcutaneous lipoma | Heel vaak (80–99%) |
| Acrokeratosis | Vaak (30–79%) |
| Beauty mark | Vaak (30–79%) |
| Coarse hair | Vaak (30–79%) |
| Hanging skin | Vaak (30–79%) |
| Shagreen patch | Vaak (30–79%) |
| Trichilemmoma | Vaak (30–79%) |
| Birthmark | Soms (5–29%) |
| Multiple birthmarks | Soms (5–29%) |
| Numerous moles | Soms (5–29%) |
| Patchy loss of skin color | Soms (5–29%) |
| Skin tags | Niet vastgelegd |
Abnormality of the cardiovascular system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Arteriovenous malformation | Heel vaak (80–99%) |
| Lymphangioma | Heel vaak (80–99%) |
| Poorly functioning veins | Heel vaak (80–99%) |
| Strawberry birthmark | Heel vaak (80–99%) |
| Strawberry mark | Heel vaak (80–99%) |
| Visceral angiomatosis | Heel vaak (80–99%) |
| Collection of dilated blood vessels that forms mass | Vaak (30–79%) |
| Dilation of Virchow-Robin spaces | Vaak (30–79%) |
| Mucosal telangiectasiae | Vaak (30–79%) |
| Abnormality of the heart | Soms (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Soms (5–29%) |
| Angina pectoris | Soms (5–29%) |
| Bulge in wall of large artery that carries blood away from heart | Soms (5–29%) |
| Cardiac failure | Soms (5–29%) |
| Cutis marmorata | Soms (5–29%) |
| Enlarged thymus | Soms (5–29%) |
| Increased spleen size | Soms (5–29%) |
| Patent ductus arteriosus | Soms (5–29%) |
| Spider veins | Soms (5–29%) |
| Abnormality of the vasculature | Niet vastgelegd |
Abnormality of the musculoskeletal system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Bone overgrowth | Heel vaak (80–99%) |
| Fatty lump | Heel vaak (80–99%) |
| Double-Jointed | Vaak (30–79%) |
| Formation of new noncancerous bone on top of existing bone | Vaak (30–79%) |
| Funnel chest | Vaak (30–79%) |
| Low muscle tone | Vaak (30–79%) |
| Low solidness and mass of the bones | Vaak (30–79%) |
| Scoliosis | Vaak (30–79%) |
| Abdominal wall muscle weakness | Soms (5–29%) |
| Abnormal skeletal development | Soms (5–29%) |
| Bone cyst | Soms (5–29%) |
| Delayed bone maturation | Soms (5–29%) |
| Generalized decreased muscle tone | Soms (5–29%) |
| Hunched back | Soms (5–29%) |
| Multiple fatty lumps | Soms (5–29%) |
| Muscle degeneration | Soms (5–29%) |
| Muscle tissue disease | Soms (5–29%) |
| Muscle weakness | Soms (5–29%) |
| Recurrent fractures | Soms (5–29%) |
| Underdeveloped middle portion of the collarbone | Soms (5–29%) |
Abnormality of the genitourinary system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormal fallopian tube morphology | Heel vaak (80–99%) |
| Ovarian cancer | Heel vaak (80–99%) |
| Abnormality of the penis | Vaak (30–79%) |
| Hydrocele testis | Vaak (30–79%) |
| Penile freckling | Vaak (30–79%) |
| Abnormality of the kidney | Soms (5–29%) |
| Abnormality of the uterus | Soms (5–29%) |
| Cancer starting in small tubes in kidneys | Soms (5–29%) |
| Endometrial carcinoma | Soms (5–29%) |
| Enlarged ovaries with cysts | Soms (5–29%) |
| Freckled genitalia | Soms (5–29%) |
| Polycystic ovaries | Soms (5–29%) |
| Prostate cancer | Soms (5–29%) |
| Uterine cancer | Soms (5–29%) |
| Ovarian carcinoma | Niet vastgelegd |
| Ovarian cyst | Niet vastgelegd |
| Transitional cell carcinoma of the bladder | Niet vastgelegd |
| Varicocele | Niet vastgelegd |
Abnormality of the digestive system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Adenomatous colonic polyposis | Altijd |
| Abnormality of the large intestine | Heel vaak (80–99%) |
| Colorectal polyposis | Heel vaak (80–99%) |
| Diarrhea | Heel vaak (80–99%) |
| Growths in inner lining of intestine | Heel vaak (80–99%) |
| Hamartomatous polyposis | Heel vaak (80–99%) |
| Nausea and vomiting | Heel vaak (80–99%) |
| Primary peritoneal carcinoma | Heel vaak (80–99%) |
| Abdominal pain | Vaak (30–79%) |
| Protein-losing enteropathy | Vaak (30–79%) |
| Cancer of the pancreas | Soms (5–29%) |
| Intussusception | Soms (5–29%) |
| Rectum protrudes through anus | Soms (5–29%) |
| Enlarged liver | Zelden (1–4%) |
| Lymphoid nodular hyperplasia | Zelden (1–4%) |
| Colonic diverticula | Niet vastgelegd |
Abnormality of limbs
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Back knee | Heel vaak (80–99%) |
| Extra finger | Heel vaak (80–99%) |
| Left and right leg differ in length or width | Heel vaak (80–99%) |
| Thickening of palms and soles | Heel vaak (80–99%) |
| Unequal size of arms | Heel vaak (80–99%) |
| Broad thumb | Soms (5–29%) |
| Clubbing of fingers | Soms (5–29%) |
| Short fingers or toes | Soms (5–29%) |
| Talipes | Soms (5–29%) |
| Wide toe bones | Soms (5–29%) |
| Duplication of bones of the toes | Zelden (1–4%) |
| Extra thumb | Zelden (1–4%) |
| Thickening of the outer layer of the skin of the palms and soles | Niet vastgelegd |
Abnormality of the endocrine system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Enlarged thyroid gland in neck | Heel vaak (80–99%) |
| Abnormality of the parathyroid gland | Vaak (30–79%) |
| Abnormality of the thyroid gland | Vaak (30–79%) |
| Neoplasm of the thyroid gland | Vaak (30–79%) |
| Follicular thyroid carcinoma | Soms (5–29%) |
| Hashimoto thyroiditis | Soms (5–29%) |
| Neoplasm of the adrenal cortex | Soms (5–29%) |
| Thyroid carcinoma | Soms (5–29%) |
| Hurthle cell thyroid adenoma | Zelden (1–4%) |
| Overactive thyroid | Niet vastgelegd |
| Thyroid adenoma | Niet vastgelegd |
| Thyroid gland inflammation | Niet vastgelegd |
| Underactive thyroid | Niet vastgelegd |
Abnormality of blood and blood-forming tissues
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Gastrointestinal bleeding | Heel vaak (80–99%) |
| Low number of red blood cells or hemoglobin | Heel vaak (80–99%) |
| Black feces | Vaak (30–79%) |
| Bleeding below the skin | Vaak (30–79%) |
| Bleeding tendency | Vaak (30–79%) |
| Rectal bleeding | Vaak (30–79%) |
| Refractory anemia | Vaak (30–79%) |
| Bleeding within the skull | Soms (5–29%) |
| Cancer of lymphatic system | Soms (5–29%) |
| Intestinal bleeding | Soms (5–29%) |
| Decreased blood lymphocyte number | Zelden (1–4%) |
Abnormality of the eye
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the pupil | Heel vaak (80–99%) |
| Close sighted | Heel vaak (80–99%) |
| Clouding of the lens of the eye | Vaak (30–79%) |
| Different colored eyes | Vaak (30–79%) |
| Retinal detachment | Vaak (30–79%) |
| Wide-set eyes | Vaak (30–79%) |
| Optic nerve issue | Soms (5–29%) |
| Angioid streaks | Niet vastgelegd |
Growth abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Short stature | Heel vaak (80–99%) |
| Birth weight > 90th percentile | Vaak (30–79%) |
| General overgrowth | Vaak (30–79%) |
| Wasting syndrome | Vaak (30–79%) |
| Faltering weight | Soms (5–29%) |
| Tall stature | Soms (5–29%) |
| Obesity | Niet vastgelegd |
Abnormal tissue mass
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormal tissue mass | Vaak (30–79%) |
| Fibroma | Vaak (30–79%) |
| Hamartoma | Vaak (30–79%) |
| Cancer of skin pigment cells | Soms (5–29%) |
| Carcinoma | Niet vastgelegd |
Abnormality of the breast
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Breast cancer | Heel vaak (80–99%) |
| Breast tumor | Heel vaak (80–99%) |
| Fibroadenoma of the breast | Vaak (30–79%) |
| Enlarged male breast | Soms (5–29%) |
Abnormality of the ear
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Recurrent middle ear infection | Vaak (30–79%) |
| Hearing impairment | Soms (5–29%) |
| Large ears | Soms (5–29%) |
| Low-set ears | Soms (5–29%) |
Laboratory abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Low albumin | Vaak (30–79%) |
| Low blood sugar | Soms (5–29%) |
| Swelling caused by excess lymph fluid under skin | Soms (5–29%) |
| Fatty infiltration of liver | Zelden (1–4%) |
Abnormality of the immune system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Cellular immunodeficiency | Soms (5–29%) |
| Recurrent infections | Zelden (1–4%) |
Abnormal cellular phenotype
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Decreased circulating antibody level | Zelden (1–4%) |
Abnormality of the respiratory system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Bronchogenic cyst | Soms (5–29%) |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Waar dit vandaan komt
- De Human Phenotype Ontology, versie 2026-09-01: de aan PTEN gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.
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