Traits

Traits linked to GP1BB

glycoprotein Ib platelet subunit beta

The Human Phenotype Ontology links 165 traits to GP1BB, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Impaired ristocetin-induced platelet aggregation	Her zaman
Low platelet count	Her zaman
Macrothrombocytopenia	Her zaman
Neonatal alloimmune thrombocytopenia	Her zaman
Bleeding tendency	Çok sık (%80–99)
Decreased platelet glycoprotein Ib-IX-V	Çok sık (%80–99)
Giant platelets	Çok sık (%80–99)
Large platelets	Çok sık (%80–99)
Abnormally heavy bleeding during menstruation	Sık (%30–79)
Blood spots	Sık (%30–79)
Cephalohematoma	Sık (%30–79)
Gastrointestinal bleeding	Sık (%30–79)
Petechiae	Sık (%30–79)
Platelet anisocytosis	Sık (%30–79)
Prolonged bleeding after dental extraction	Sık (%30–79)
Recurring nosebleed	Sık (%30–79)
Spontaneous hematomas	Sık (%30–79)
Abnormal megakaryocyte morphology	Bazen (%5–29)
Black feces	Bazen (%5–29)
Bleeding gums	Bazen (%5–29)
Bleeding within the skull	Bazen (%5–29)
Bloody nose	Bazen (%5–29)
Bruising susceptibility	Bazen (%5–29)
Ecchymosis	Bazen (%5–29)
Platelet abnormalities	Bazen (%5–29)
Prolonged bleeding after surgery	Bazen (%5–29)
Vomiting blood	Bazen (%5–29)
Subarachnoid hemorrhage	Seyrek (%1–4)
Prolonged bleeding time	Kaydedilmedi

Abnormality of head or neck

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

Abnormality of the nervous system

Trait	Ne sıklıkla görüldüğü
Difficulty finding words	Çok sık (%80–99)
Anxiety	Sık (%30–79)
Attention deficit	Sık (%30–79)
Global developmental delay	Sık (%30–79)
Intellectual disability, mild	Sık (%30–79)
Meningocele	Sık (%30–79)
Specific learning disability	Sık (%30–79)
Arrhinencephaly	Bazen (%5–29)
Autism	Bazen (%5–29)
Behavioral abnormality	Bazen (%5–29)
Bipolar disorder	Bazen (%5–29)
Depression	Bazen (%5–29)
Epilepsy	Bazen (%5–29)
Intellectual disability	Bazen (%5–29)
Parkinsonism	Bazen (%5–29)
Schizophrenia	Bazen (%5–29)
Split spine	Bazen (%5–29)
Too much cerebrospinal fluid in the brain	Bazen (%5–29)
Abnormality of the nervous system	Seyrek (%1–4)
Cerebral palsy	Seyrek (%1–4)
Migraine	Seyrek (%1–4)

Abnormality of the cardiovascular system

Trait	Ne sıklıkla görüldüğü
Abnormal aortic arch morphology	Çok sık (%80–99)
Abnormal cardiovascular system morphology	Çok sık (%80–99)
Abnormal pulmonary valve morphology	Çok sık (%80–99)
An opening in the wall separating the top two chambers of the heart	Çok sık (%80–99)
Hole in heart wall separating two lower heart chambers	Çok sık (%80–99)
Small thymus	Çok sık (%80–99)
Tetralogy of Fallot	Çok sık (%80–99)
Truncus arteriosus	Çok sık (%80–99)
Abnormality of the tonsils	Sık (%30–79)
Abnormal aortic valve morphology	Bazen (%5–29)
Hypertensive crisis	Bazen (%5–29)
Increased spleen size	Bazen (%5–29)
Patent ductus arteriosus	Bazen (%5–29)
Tricuspid atresia	Bazen (%5–29)
Varicose veins	Bazen (%5–29)

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Anorectal anomaly	Sık (%30–79)
Constipation	Sık (%30–79)
Absent anus	Bazen (%5–29)
Acid reflux	Bazen (%5–29)
Enlarged colon lacking nerve cells	Bazen (%5–29)
Feeding difficulties in infancy	Bazen (%5–29)
Gallstones	Bazen (%5–29)
Inguinal hernia	Bazen (%5–29)
Intestinal malrotation	Bazen (%5–29)
Loss of bowel control	Bazen (%5–29)
Umbilical hernia	Bazen (%5–29)
Partially duplicated kidney	Seyrek (%1–4)

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Drooping upper eyelid	Sık (%30–79)
New blood vessel formation in cornea	Sık (%30–79)
Posterior embryotoxon	Sık (%30–79)
Abnormally small eyeball	Bazen (%5–29)
Clouding of the lens of the eye	Bazen (%5–29)
Cross-eyed	Bazen (%5–29)
Glaucoma	Bazen (%5–29)
Optic atrophy	Bazen (%5–29)
Wide-set eyes	Bazen (%5–29)
Blindness	Seyrek (%1–4)

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Small kidneys	Sık (%30–79)
Abnormal uterus bleeding	Bazen (%5–29)
Abnormality of the uterus	Bazen (%5–29)
Hypospadias	Bazen (%5–29)
Multiple kidney cysts	Bazen (%5–29)
Polycystic kidney dysplasia	Bazen (%5–29)
Undescended testes	Bazen (%5–29)
Vesicoureteral reflux	Bazen (%5–29)

Abnormality of the ear

Trait	Ne sıklıkla görüldüğü
Conductive deafness	Çok sık (%80–99)
Low-set ears	Çok sık (%80–99)
Chronic infections of the middle ear	Sık (%30–79)
Hearing impairment	Sık (%30–79)
Overfolded ears	Sık (%30–79)
Small earlobe	Sık (%30–79)
Bilateral sensorineural hearing impairment	Seyrek (%1–4)

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Low muscle tone	Çok sık (%80–99)
Intermittent involuntary muscle spasm	Sık (%30–79)
Scoliosis	Sık (%30–79)
Abnormality of the chest	Bazen (%5–29)
Arthritis	Bazen (%5–29)
Double-Jointed	Bazen (%5–29)

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Long slender fingers	Sık (%30–79)
Club feet	Bazen (%5–29)
Dislocated kneecap	Bazen (%5–29)
Duplication of bones of the toes	Bazen (%5–29)
Extra finger	Bazen (%5–29)

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Decreased immune function	Çok sık (%80–99)
Acne	Sık (%30–79)
Seborrheic dermatitis	Sık (%30–79)
Asthma	Bazen (%5–29)
Autoimmunity	Bazen (%5–29)

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Abnormality of the pharynx	Çok sık (%80–99)
Abnormal lung lobation	Bazen (%5–29)
Chronic pulmonary obstruction	Bazen (%5–29)
Partial or complete collapse of part or entire lung	Bazen (%5–29)
Softening of voice box tissue	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Short stature	Sık (%30–79)
Faltering weight	Bazen (%5–29)
Obesity	Bazen (%5–29)
Prenatal growth deficiency	Bazen (%5–29)

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Decreased parathyroid hormone secretion	Sık (%30–79)
Overactive thyroid	Bazen (%5–29)
Underactive thyroid	Bazen (%5–29)

Laboratory abnormality

Trait	Ne sıklıkla görüldüğü
Low blood calcium levels	Sık (%30–79)
Blood in urine	Bazen (%5–29)
Bloody urine	Bazen (%5–29)

Abnormal cellular phenotype

Trait	Ne sıklıkla görüldüğü
Impaired T cell function	Sık (%30–79)

Abnormality of prenatal development or birth

Trait	Ne sıklıkla görüldüğü
High levels of amniotic fluid	Bazen (%5–29)

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Patchy loss of skin color	Bazen (%5–29)

Abnormality of the voice

Trait	Ne sıklıkla görüldüğü
Nasal speech	Çok sık (%80–99)

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Muscle ache	Sık (%30–79)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

The Human Phenotype Ontology, release 2026-09-01: the traits linked to GP1BB and how often each is seen. Find out more at hpo.jax.org.

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