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	Hoe vaak het voorkomt
Impaired ristocetin-induced platelet aggregation	Altijd
Low platelet count	Altijd
Macrothrombocytopenia	Altijd
Neonatal alloimmune thrombocytopenia	Altijd
Bleeding tendency	Heel vaak (80–99%)
Decreased platelet glycoprotein Ib-IX-V	Heel vaak (80–99%)
Giant platelets	Heel vaak (80–99%)
Large platelets	Heel vaak (80–99%)
Abnormally heavy bleeding during menstruation	Vaak (30–79%)
Blood spots	Vaak (30–79%)
Cephalohematoma	Vaak (30–79%)
Gastrointestinal bleeding	Vaak (30–79%)
Petechiae	Vaak (30–79%)
Platelet anisocytosis	Vaak (30–79%)
Prolonged bleeding after dental extraction	Vaak (30–79%)
Recurring nosebleed	Vaak (30–79%)
Spontaneous hematomas	Vaak (30–79%)
Abnormal megakaryocyte morphology	Soms (5–29%)
Black feces	Soms (5–29%)
Bleeding gums	Soms (5–29%)
Bleeding within the skull	Soms (5–29%)
Bloody nose	Soms (5–29%)
Bruising susceptibility	Soms (5–29%)
Ecchymosis	Soms (5–29%)
Platelet abnormalities	Soms (5–29%)
Prolonged bleeding after surgery	Soms (5–29%)
Vomiting blood	Soms (5–29%)
Subarachnoid hemorrhage	Zelden (1–4%)
Prolonged bleeding time	Niet vastgelegd

Abnormality of head or neck

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

Abnormality of the nervous system

Trait	Hoe vaak het voorkomt
Difficulty finding words	Heel vaak (80–99%)
Anxiety	Vaak (30–79%)
Attention deficit	Vaak (30–79%)
Global developmental delay	Vaak (30–79%)
Intellectual disability, mild	Vaak (30–79%)
Meningocele	Vaak (30–79%)
Specific learning disability	Vaak (30–79%)
Arrhinencephaly	Soms (5–29%)
Autism	Soms (5–29%)
Behavioral abnormality	Soms (5–29%)
Bipolar disorder	Soms (5–29%)
Depression	Soms (5–29%)
Epilepsy	Soms (5–29%)
Intellectual disability	Soms (5–29%)
Parkinsonism	Soms (5–29%)
Schizophrenia	Soms (5–29%)
Split spine	Soms (5–29%)
Too much cerebrospinal fluid in the brain	Soms (5–29%)
Abnormality of the nervous system	Zelden (1–4%)
Cerebral palsy	Zelden (1–4%)
Migraine	Zelden (1–4%)

Abnormality of the cardiovascular system

Trait	Hoe vaak het voorkomt
Abnormal aortic arch morphology	Heel vaak (80–99%)
Abnormal cardiovascular system morphology	Heel vaak (80–99%)
Abnormal pulmonary valve morphology	Heel vaak (80–99%)
An opening in the wall separating the top two chambers of the heart	Heel vaak (80–99%)
Hole in heart wall separating two lower heart chambers	Heel vaak (80–99%)
Small thymus	Heel vaak (80–99%)
Tetralogy of Fallot	Heel vaak (80–99%)
Truncus arteriosus	Heel vaak (80–99%)
Abnormality of the tonsils	Vaak (30–79%)
Abnormal aortic valve morphology	Soms (5–29%)
Hypertensive crisis	Soms (5–29%)
Increased spleen size	Soms (5–29%)
Patent ductus arteriosus	Soms (5–29%)
Tricuspid atresia	Soms (5–29%)
Varicose veins	Soms (5–29%)

Abnormality of the digestive system

Trait	Hoe vaak het voorkomt
Anorectal anomaly	Vaak (30–79%)
Constipation	Vaak (30–79%)
Absent anus	Soms (5–29%)
Acid reflux	Soms (5–29%)
Enlarged colon lacking nerve cells	Soms (5–29%)
Feeding difficulties in infancy	Soms (5–29%)
Gallstones	Soms (5–29%)
Inguinal hernia	Soms (5–29%)
Intestinal malrotation	Soms (5–29%)
Loss of bowel control	Soms (5–29%)
Umbilical hernia	Soms (5–29%)
Partially duplicated kidney	Zelden (1–4%)

Abnormality of the eye

Trait	Hoe vaak het voorkomt
Drooping upper eyelid	Vaak (30–79%)
New blood vessel formation in cornea	Vaak (30–79%)
Posterior embryotoxon	Vaak (30–79%)
Abnormally small eyeball	Soms (5–29%)
Clouding of the lens of the eye	Soms (5–29%)
Cross-eyed	Soms (5–29%)
Glaucoma	Soms (5–29%)
Optic atrophy	Soms (5–29%)
Wide-set eyes	Soms (5–29%)
Blindness	Zelden (1–4%)

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Small kidneys	Vaak (30–79%)
Abnormal uterus bleeding	Soms (5–29%)
Abnormality of the uterus	Soms (5–29%)
Hypospadias	Soms (5–29%)
Multiple kidney cysts	Soms (5–29%)
Polycystic kidney dysplasia	Soms (5–29%)
Undescended testes	Soms (5–29%)
Vesicoureteral reflux	Soms (5–29%)

Abnormality of the ear

Trait	Hoe vaak het voorkomt
Conductive deafness	Heel vaak (80–99%)
Low-set ears	Heel vaak (80–99%)
Chronic infections of the middle ear	Vaak (30–79%)
Hearing impairment	Vaak (30–79%)
Overfolded ears	Vaak (30–79%)
Small earlobe	Vaak (30–79%)
Bilateral sensorineural hearing impairment	Zelden (1–4%)

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Low muscle tone	Heel vaak (80–99%)
Intermittent involuntary muscle spasm	Vaak (30–79%)
Scoliosis	Vaak (30–79%)
Abnormality of the chest	Soms (5–29%)
Arthritis	Soms (5–29%)
Double-Jointed	Soms (5–29%)

Abnormality of limbs

Trait	Hoe vaak het voorkomt
Long slender fingers	Vaak (30–79%)
Club feet	Soms (5–29%)
Dislocated kneecap	Soms (5–29%)
Duplication of bones of the toes	Soms (5–29%)
Extra finger	Soms (5–29%)

Abnormality of the immune system

Trait	Hoe vaak het voorkomt
Decreased immune function	Heel vaak (80–99%)
Acne	Vaak (30–79%)
Seborrheic dermatitis	Vaak (30–79%)
Asthma	Soms (5–29%)
Autoimmunity	Soms (5–29%)

Abnormality of the respiratory system

Trait	Hoe vaak het voorkomt
Abnormality of the pharynx	Heel vaak (80–99%)
Abnormal lung lobation	Soms (5–29%)
Chronic pulmonary obstruction	Soms (5–29%)
Partial or complete collapse of part or entire lung	Soms (5–29%)
Softening of voice box tissue	Soms (5–29%)

Growth abnormality

Trait	Hoe vaak het voorkomt
Short stature	Vaak (30–79%)
Faltering weight	Soms (5–29%)
Obesity	Soms (5–29%)
Prenatal growth deficiency	Soms (5–29%)

Abnormality of the endocrine system

Trait	Hoe vaak het voorkomt
Decreased parathyroid hormone secretion	Vaak (30–79%)
Overactive thyroid	Soms (5–29%)
Underactive thyroid	Soms (5–29%)

Laboratory abnormality

Trait	Hoe vaak het voorkomt
Low blood calcium levels	Vaak (30–79%)
Blood in urine	Soms (5–29%)
Bloody urine	Soms (5–29%)

Abnormal cellular phenotype

Trait	Hoe vaak het voorkomt
Impaired T cell function	Vaak (30–79%)

Abnormality of prenatal development or birth

Trait	Hoe vaak het voorkomt
High levels of amniotic fluid	Soms (5–29%)

Abnormality of the integument

Trait	Hoe vaak het voorkomt
Patchy loss of skin color	Soms (5–29%)

Abnormality of the voice

Trait	Hoe vaak het voorkomt
Nasal speech	Heel vaak (80–99%)

Constitutional symptom

Trait	Hoe vaak het voorkomt
Muscle ache	Vaak (30–79%)

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

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.

Eén test. Een leven lang antwoorden.

Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken

Mijn Genome Test bestellen