Požymiai

Su PTEN susiję požymiai

phosphatase and tensin homolog

Žmogaus fenotipo ontologija sieja 232 požymių su PTEN, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Postnatal macrocephaly	Visada
Abnormally large tongue	Labai dažnai (80–99%)
Benign eye tumor	Labai dažnai (80–99%)
Big calvaria	Labai dažnai (80–99%)
Conjunctival hamartoma	Labai dažnai (80–99%)
Open bite	Labai dažnai (80–99%)
Abnormal facial shape	Dažnai (30–79%)
Adenoma sebaceum	Dažnai (30–79%)
Big lower jaw	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Grooved tongue	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Large forehead	Dažnai (30–79%)
Midface retrusion	Dažnai (30–79%)
Prominent forehead	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Long, narrow head	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Narrow palate	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Short chin	Kartais (5–29%)
Short nose	Kartais (5–29%)
Wide nose	Kartais (5–29%)
Broad forehead	Neužfiksuota
Decreased size of maxilla	Neužfiksuota
Decreased width of the skull	Neužfiksuota
Progressively abnormally enlarging cranium	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Autism	Visada
Noncancerous growth of membranes covering brain	Visada
Oligodendroglioma	Visada
Ataxia	Labai dažnai (80–99%)
Autism spectrum disorder	Labai dažnai (80–99%)
Cranial nerve paralysis	Labai dažnai (80–99%)
Enlarged cerebellum	Labai dažnai (80–99%)
Epilepsy	Labai dažnai (80–99%)
Headache	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
More grooves in brain	Labai dažnai (80–99%)
Rise in pressure inside skull	Labai dažnai (80–99%)
Too much cerebrospinal fluid in the brain	Labai dažnai (80–99%)
Cognitive impairment	Dažnai (30–79%)
Communicating hydrocephalus	Dažnai (30–79%)
Delayed speech and language development	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Short attention span	Dažnai (30–79%)
Speech apraxia	Dažnai (30–79%)
Abnormal speech pattern	Kartais (5–29%)
Abnormality of the cerebellum	Kartais (5–29%)
Delayed motor skills	Kartais (5–29%)
Hemangioblastoma	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Paralysis or weakness of one side of body	Kartais (5–29%)
Tumors of the central nervous system	Kartais (5–29%)
Attention deficit	Retai (1–4 %)
Dysplastic gangliocytoma of the cerebellum	Neužfiksuota
Hemimegalencephaly	Neužfiksuota
Intention tremor	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Epidermal nevus	Labai dažnai (80–99%)
Excessive wrinkled skin	Labai dažnai (80–99%)
Firm lump under the skin	Labai dažnai (80–99%)
Flat, discolored area of skin	Labai dažnai (80–99%)
Generalized hyperkeratosis	Labai dažnai (80–99%)
Irregular hyperpigmentation	Labai dažnai (80–99%)
Mole	Labai dažnai (80–99%)
Papilloma	Labai dažnai (80–99%)
Papule	Labai dažnai (80–99%)
Skin cancer	Labai dažnai (80–99%)
Subcutaneous lipoma	Labai dažnai (80–99%)
Acrokeratosis	Dažnai (30–79%)
Beauty mark	Dažnai (30–79%)
Coarse hair	Dažnai (30–79%)
Hanging skin	Dažnai (30–79%)
Shagreen patch	Dažnai (30–79%)
Trichilemmoma	Dažnai (30–79%)
Birthmark	Kartais (5–29%)
Multiple birthmarks	Kartais (5–29%)
Numerous moles	Kartais (5–29%)
Patchy loss of skin color	Kartais (5–29%)
Skin tags	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Arteriovenous malformation	Labai dažnai (80–99%)
Lymphangioma	Labai dažnai (80–99%)
Poorly functioning veins	Labai dažnai (80–99%)
Strawberry birthmark	Labai dažnai (80–99%)
Strawberry mark	Labai dažnai (80–99%)
Visceral angiomatosis	Labai dažnai (80–99%)
Collection of dilated blood vessels that forms mass	Dažnai (30–79%)
Dilation of Virchow-Robin spaces	Dažnai (30–79%)
Mucosal telangiectasiae	Dažnai (30–79%)
Abnormality of the heart	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Angina pectoris	Kartais (5–29%)
Bulge in wall of large artery that carries blood away from heart	Kartais (5–29%)
Cardiac failure	Kartais (5–29%)
Cutis marmorata	Kartais (5–29%)
Enlarged thymus	Kartais (5–29%)
Increased spleen size	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Spider veins	Kartais (5–29%)
Abnormality of the vasculature	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Bone overgrowth	Labai dažnai (80–99%)
Fatty lump	Labai dažnai (80–99%)
Double-Jointed	Dažnai (30–79%)
Formation of new noncancerous bone on top of existing bone	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Low solidness and mass of the bones	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abdominal wall muscle weakness	Kartais (5–29%)
Abnormal skeletal development	Kartais (5–29%)
Bone cyst	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Generalized decreased muscle tone	Kartais (5–29%)
Hunched back	Kartais (5–29%)
Multiple fatty lumps	Kartais (5–29%)
Muscle degeneration	Kartais (5–29%)
Muscle tissue disease	Kartais (5–29%)
Muscle weakness	Kartais (5–29%)
Recurrent fractures	Kartais (5–29%)
Underdeveloped middle portion of the collarbone	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal fallopian tube morphology	Labai dažnai (80–99%)
Ovarian cancer	Labai dažnai (80–99%)
Abnormality of the penis	Dažnai (30–79%)
Hydrocele testis	Dažnai (30–79%)
Penile freckling	Dažnai (30–79%)
Abnormality of the kidney	Kartais (5–29%)
Abnormality of the uterus	Kartais (5–29%)
Cancer starting in small tubes in kidneys	Kartais (5–29%)
Endometrial carcinoma	Kartais (5–29%)
Enlarged ovaries with cysts	Kartais (5–29%)
Freckled genitalia	Kartais (5–29%)
Polycystic ovaries	Kartais (5–29%)
Prostate cancer	Kartais (5–29%)
Uterine cancer	Kartais (5–29%)
Ovarian carcinoma	Neužfiksuota
Ovarian cyst	Neužfiksuota
Transitional cell carcinoma of the bladder	Neužfiksuota
Varicocele	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Adenomatous colonic polyposis	Visada
Abnormality of the large intestine	Labai dažnai (80–99%)
Colorectal polyposis	Labai dažnai (80–99%)
Diarrhea	Labai dažnai (80–99%)
Growths in inner lining of intestine	Labai dažnai (80–99%)
Hamartomatous polyposis	Labai dažnai (80–99%)
Nausea and vomiting	Labai dažnai (80–99%)
Primary peritoneal carcinoma	Labai dažnai (80–99%)
Abdominal pain	Dažnai (30–79%)
Protein-losing enteropathy	Dažnai (30–79%)
Cancer of the pancreas	Kartais (5–29%)
Intussusception	Kartais (5–29%)
Rectum protrudes through anus	Kartais (5–29%)
Enlarged liver	Retai (1–4 %)
Lymphoid nodular hyperplasia	Retai (1–4 %)
Colonic diverticula	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Back knee	Labai dažnai (80–99%)
Extra finger	Labai dažnai (80–99%)
Left and right leg differ in length or width	Labai dažnai (80–99%)
Thickening of palms and soles	Labai dažnai (80–99%)
Unequal size of arms	Labai dažnai (80–99%)
Broad thumb	Kartais (5–29%)
Clubbing of fingers	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Talipes	Kartais (5–29%)
Wide toe bones	Kartais (5–29%)
Duplication of bones of the toes	Retai (1–4 %)
Extra thumb	Retai (1–4 %)
Thickening of the outer layer of the skin of the palms and soles	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Enlarged thyroid gland in neck	Labai dažnai (80–99%)
Abnormality of the parathyroid gland	Dažnai (30–79%)
Abnormality of the thyroid gland	Dažnai (30–79%)
Neoplasm of the thyroid gland	Dažnai (30–79%)
Follicular thyroid carcinoma	Kartais (5–29%)
Hashimoto thyroiditis	Kartais (5–29%)
Neoplasm of the adrenal cortex	Kartais (5–29%)
Thyroid carcinoma	Kartais (5–29%)
Hurthle cell thyroid adenoma	Retai (1–4 %)
Overactive thyroid	Neužfiksuota
Thyroid adenoma	Neužfiksuota
Thyroid gland inflammation	Neužfiksuota
Underactive thyroid	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Gastrointestinal bleeding	Labai dažnai (80–99%)
Low number of red blood cells or hemoglobin	Labai dažnai (80–99%)
Black feces	Dažnai (30–79%)
Bleeding below the skin	Dažnai (30–79%)
Bleeding tendency	Dažnai (30–79%)
Rectal bleeding	Dažnai (30–79%)
Refractory anemia	Dažnai (30–79%)
Bleeding within the skull	Kartais (5–29%)
Cancer of lymphatic system	Kartais (5–29%)
Intestinal bleeding	Kartais (5–29%)
Decreased blood lymphocyte number	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormality of the pupil	Labai dažnai (80–99%)
Close sighted	Labai dažnai (80–99%)
Clouding of the lens of the eye	Dažnai (30–79%)
Different colored eyes	Dažnai (30–79%)
Retinal detachment	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Optic nerve issue	Kartais (5–29%)
Angioid streaks	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Labai dažnai (80–99%)
Birth weight > 90th percentile	Dažnai (30–79%)
General overgrowth	Dažnai (30–79%)
Wasting syndrome	Dažnai (30–79%)
Faltering weight	Kartais (5–29%)
Tall stature	Kartais (5–29%)
Obesity	Neužfiksuota

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Abnormal tissue mass	Dažnai (30–79%)
Fibroma	Dažnai (30–79%)
Hamartoma	Dažnai (30–79%)
Cancer of skin pigment cells	Kartais (5–29%)
Carcinoma	Neužfiksuota

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Breast cancer	Labai dažnai (80–99%)
Breast tumor	Labai dažnai (80–99%)
Fibroadenoma of the breast	Dažnai (30–79%)
Enlarged male breast	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Recurrent middle ear infection	Dažnai (30–79%)
Hearing impairment	Kartais (5–29%)
Large ears	Kartais (5–29%)
Low-set ears	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Low albumin	Dažnai (30–79%)
Low blood sugar	Kartais (5–29%)
Swelling caused by excess lymph fluid under skin	Kartais (5–29%)
Fatty infiltration of liver	Retai (1–4 %)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Cellular immunodeficiency	Kartais (5–29%)
Recurrent infections	Retai (1–4 %)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased circulating antibody level	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Bronchogenic cyst	Kartais (5–29%)

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

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su PTEN susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

Vienas testas. Atsakymai visam gyvenimui.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test