Požymiai

Su GP1BB susiję požymiai

glycoprotein Ib platelet subunit beta

Žmogaus fenotipo ontologija sieja 165 požymių su GP1BB, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Impaired ristocetin-induced platelet aggregation	Visada
Low platelet count	Visada
Macrothrombocytopenia	Visada
Neonatal alloimmune thrombocytopenia	Visada
Bleeding tendency	Labai dažnai (80–99%)
Decreased platelet glycoprotein Ib-IX-V	Labai dažnai (80–99%)
Giant platelets	Labai dažnai (80–99%)
Large platelets	Labai dažnai (80–99%)
Abnormally heavy bleeding during menstruation	Dažnai (30–79%)
Blood spots	Dažnai (30–79%)
Cephalohematoma	Dažnai (30–79%)
Gastrointestinal bleeding	Dažnai (30–79%)
Petechiae	Dažnai (30–79%)
Platelet anisocytosis	Dažnai (30–79%)
Prolonged bleeding after dental extraction	Dažnai (30–79%)
Recurring nosebleed	Dažnai (30–79%)
Spontaneous hematomas	Dažnai (30–79%)
Abnormal megakaryocyte morphology	Kartais (5–29%)
Black feces	Kartais (5–29%)
Bleeding gums	Kartais (5–29%)
Bleeding within the skull	Kartais (5–29%)
Bloody nose	Kartais (5–29%)
Bruising susceptibility	Kartais (5–29%)
Ecchymosis	Kartais (5–29%)
Platelet abnormalities	Kartais (5–29%)
Prolonged bleeding after surgery	Kartais (5–29%)
Vomiting blood	Kartais (5–29%)
Subarachnoid hemorrhage	Retai (1–4 %)
Prolonged bleeding time	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormal facial shape	Labai dažnai (80–99%)
Bulbous nose	Labai dažnai (80–99%)
Cleft palate	Labai dažnai (80–99%)
Corners of eye widely separated	Labai dažnai (80–99%)
Eye folds	Labai dažnai (80–99%)
Flattening of the skull base	Labai dažnai (80–99%)
Prominent nasal bridge	Labai dažnai (80–99%)
Upward slanting of the opening between the eyelids	Labai dažnai (80–99%)
Wide nasal bridge	Labai dažnai (80–99%)
Abnormal dentition	Dažnai (30–79%)
Abnormality of the eyelid	Dažnai (30–79%)
Abnormality of the skull	Dažnai (30–79%)
Dental cavities	Dažnai (30–79%)
Long face	Dažnai (30–79%)
Long philtrum	Dažnai (30–79%)
Short neck	Dažnai (30–79%)
Zygomatic flattening	Dažnai (30–79%)
Abnormal tooth enamel	Kartais (5–29%)
Abnormally small head	Kartais (5–29%)
Blockage of the rear opening of the nasal cavity	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Multiple suture craniosynostosis	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Retinal arteriolar tortuosity	Kartais (5–29%)
Short philtrum	Kartais (5–29%)
Tall shaped head	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Difficulty finding words	Labai dažnai (80–99%)
Anxiety	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Intellectual disability, mild	Dažnai (30–79%)
Meningocele	Dažnai (30–79%)
Specific learning disability	Dažnai (30–79%)
Arrhinencephaly	Kartais (5–29%)
Autism	Kartais (5–29%)
Behavioral abnormality	Kartais (5–29%)
Bipolar disorder	Kartais (5–29%)
Depression	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Intellectual disability	Kartais (5–29%)
Parkinsonism	Kartais (5–29%)
Schizophrenia	Kartais (5–29%)
Split spine	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Abnormality of the nervous system	Retai (1–4 %)
Cerebral palsy	Retai (1–4 %)
Migraine	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal aortic arch morphology	Labai dažnai (80–99%)
Abnormal cardiovascular system morphology	Labai dažnai (80–99%)
Abnormal pulmonary valve morphology	Labai dažnai (80–99%)
An opening in the wall separating the top two chambers of the heart	Labai dažnai (80–99%)
Hole in heart wall separating two lower heart chambers	Labai dažnai (80–99%)
Small thymus	Labai dažnai (80–99%)
Tetralogy of Fallot	Labai dažnai (80–99%)
Truncus arteriosus	Labai dažnai (80–99%)
Abnormality of the tonsils	Dažnai (30–79%)
Abnormal aortic valve morphology	Kartais (5–29%)
Hypertensive crisis	Kartais (5–29%)
Increased spleen size	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Tricuspid atresia	Kartais (5–29%)
Varicose veins	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Anorectal anomaly	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Absent anus	Kartais (5–29%)
Acid reflux	Kartais (5–29%)
Enlarged colon lacking nerve cells	Kartais (5–29%)
Feeding difficulties in infancy	Kartais (5–29%)
Gallstones	Kartais (5–29%)
Inguinal hernia	Kartais (5–29%)
Intestinal malrotation	Kartais (5–29%)
Loss of bowel control	Kartais (5–29%)
Umbilical hernia	Kartais (5–29%)
Partially duplicated kidney	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Drooping upper eyelid	Dažnai (30–79%)
New blood vessel formation in cornea	Dažnai (30–79%)
Posterior embryotoxon	Dažnai (30–79%)
Abnormally small eyeball	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Glaucoma	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)
Blindness	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Small kidneys	Dažnai (30–79%)
Abnormal uterus bleeding	Kartais (5–29%)
Abnormality of the uterus	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Multiple kidney cysts	Kartais (5–29%)
Polycystic kidney dysplasia	Kartais (5–29%)
Undescended testes	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Conductive deafness	Labai dažnai (80–99%)
Low-set ears	Labai dažnai (80–99%)
Chronic infections of the middle ear	Dažnai (30–79%)
Hearing impairment	Dažnai (30–79%)
Overfolded ears	Dažnai (30–79%)
Small earlobe	Dažnai (30–79%)
Bilateral sensorineural hearing impairment	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Labai dažnai (80–99%)
Intermittent involuntary muscle spasm	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormality of the chest	Kartais (5–29%)
Arthritis	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Long slender fingers	Dažnai (30–79%)
Club feet	Kartais (5–29%)
Dislocated kneecap	Kartais (5–29%)
Duplication of bones of the toes	Kartais (5–29%)
Extra finger	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Decreased immune function	Labai dažnai (80–99%)
Acne	Dažnai (30–79%)
Seborrheic dermatitis	Dažnai (30–79%)
Asthma	Kartais (5–29%)
Autoimmunity	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormality of the pharynx	Labai dažnai (80–99%)
Abnormal lung lobation	Kartais (5–29%)
Chronic pulmonary obstruction	Kartais (5–29%)
Partial or complete collapse of part or entire lung	Kartais (5–29%)
Softening of voice box tissue	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Dažnai (30–79%)
Faltering weight	Kartais (5–29%)
Obesity	Kartais (5–29%)
Prenatal growth deficiency	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased parathyroid hormone secretion	Dažnai (30–79%)
Overactive thyroid	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Low blood calcium levels	Dažnai (30–79%)
Blood in urine	Kartais (5–29%)
Bloody urine	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Impaired T cell function	Dažnai (30–79%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Patchy loss of skin color	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Nasal speech	Labai dažnai (80–99%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Muscle ache	Dažnai (30–79%)

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 GP1BB susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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