Ga naar de inhoud
Gebruik uw HSA- of FSA-tegoed

Kenmerken

Kenmerken gekoppeld aan STAT3

signal transducer and activator of transcription 3

De Human Phenotype Ontology koppelt 172 kenmerken aan STAT3, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of the digestive system

KenmerkHoe vaak het voorkomt
Reduced pancreatic beta cellsHeel vaak (80–99%)
Abnormality of the intestineVaak (30–79%)
Acid refluxVaak (30–79%)
AnorexiaVaak (30–79%)
Celiac diseaseVaak (30–79%)
Eosinophilic infiltration in the stomach mucosaVaak (30–79%)
Eosinophilic infiltration of the esophagusVaak (30–79%)
Inability to properly digest food due to lack of pancreatic digestive enzymesVaak (30–79%)
Poor swallowingVaak (30–79%)
Abdominal painSoms (5–29%)
AchalasiaSoms (5–29%)
Candida esophagitisSoms (5–29%)
ConstipationSoms (5–29%)
DiarrheaSoms (5–29%)
Duodenal ulcerSoms (5–29%)
Esophageal diverticulumSoms (5–29%)
Esophageal food impactionSoms (5–29%)
Esophagus ulcerSoms (5–29%)
Feeling full quickly when eatingSoms (5–29%)
Increased hepatic echogenicitySoms (5–29%)
Intestinal perforationSoms (5–29%)
Narrowing of esophagus due to inflammation and scar tissueSoms (5–29%)
NauseaSoms (5–29%)
Painful swallowingSoms (5–29%)
Stomach ulcerSoms (5–29%)
Underdeveloped pancreasSoms (5–29%)
Colonic diverticulaZelden (1–4%)
Esophageal furrowsZelden (1–4%)
Rectum protrudes through anusZelden (1–4%)

Abnormality of blood and blood-forming tissues

KenmerkHoe vaak het voorkomt
Autoimmune hemolytic anemiaHeel vaak (80–99%)
Autoimmune neutropeniaVaak (30–79%)
Autoimmune thrombocytopeniaVaak (30–79%)
Bleeding gumsVaak (30–79%)
Bleeding tendencyVaak (30–79%)
Blood spotsVaak (30–79%)
Bloody noseVaak (30–79%)
Bone marrow hypercellularityVaak (30–79%)
Bruising susceptibilityVaak (30–79%)
Decreased blood leukocyte numberVaak (30–79%)
Disseminated intravascular coagulationVaak (30–79%)
EcchymosisVaak (30–79%)
High blood eosinophil countVaak (30–79%)
Low blood cell countVaak (30–79%)
Low number of red blood cells or hemoglobinVaak (30–79%)
Low platelet countVaak (30–79%)
PetechiaeVaak (30–79%)
Cancer of lymphatic systemSoms (5–29%)
Diffuse alveolar hemorrhageSoms (5–29%)
Elevated white blood countSoms (5–29%)
Hodgkin lymphomaSoms (5–29%)
HypofibrinogenemiaSoms (5–29%)
Low blood neutrophil countSoms (5–29%)
Oral cavity bleedingSoms (5–29%)

Abnormality of head or neck

KenmerkHoe vaak het voorkomt
Wide noseAltijd
Abnormal dentitionVaak (30–79%)
Abnormality of the faceVaak (30–79%)
Big lower jawVaak (30–79%)
Chronic oral thrushVaak (30–79%)
Cleft palateVaak (30–79%)
Delayed eruption of teethVaak (30–79%)
Delayed loss of baby teethVaak (30–79%)
Dentinogenesis imperfectaVaak (30–79%)
Downturned corners of mouthVaak (30–79%)
Facial asymmetryVaak (30–79%)
Fatty deposits in skin around the eyesVaak (30–79%)
High palateVaak (30–79%)
Inflamed gumsVaak (30–79%)
Prominent foreheadVaak (30–79%)
Prominent metopic ridgeVaak (30–79%)
Recurrent coldsVaak (30–79%)
Wide nasal bridgeVaak (30–79%)
Deformity of the skullSoms (5–29%)
Gum enlargementSoms (5–29%)
Inflammation of the mouthSoms (5–29%)
Coarse facial featuresNiet vastgelegd
Frontal bossingNiet vastgelegd

Abnormality of the immune system

KenmerkHoe vaak het voorkomt
EczemaHeel vaak (80–99%)
Recurrent cutaneous abscess formationHeel vaak (80–99%)
Recurrent infectionsHeel vaak (80–99%)
Recurrent pneumoniaHeel vaak (80–99%)
Recurrent respiratory infectionsHeel vaak (80–99%)
Skin abscessHeel vaak (80–99%)
Skin rashHeel vaak (80–99%)
Chronic infectionVaak (30–79%)
Opportunistic infectionVaak (30–79%)
Recurrent mucocutaneous candidiasisVaak (30–79%)
Recurrent Staphylococcus aureus infectionVaak (30–79%)
Bone infectionSoms (5–29%)
Recurrent chest infectionsSoms (5–29%)
Autoimmune antibody positivityNiet vastgelegd
AutoimmunityNiet vastgelegd
Recurrent fungal infectionsNiet vastgelegd
Recurrent sinus and lung infectionsNiet vastgelegd

Abnormality of the nervous system

KenmerkHoe vaak het voorkomt
Generalized myoclonic seizureVaak (30–79%)
Global developmental delayVaak (30–79%)
Grand mal seizuresVaak (30–79%)
Intellectual disabilityVaak (30–79%)
Motor delayVaak (30–79%)
Neurodevelopmental delayVaak (30–79%)
Addictive alcohol useSoms (5–29%)
ApraxiaSoms (5–29%)
AtaxiaSoms (5–29%)
Chiari type I malformationSoms (5–29%)
ComaSoms (5–29%)
Intellectual disability, severeSoms (5–29%)
Peripheral axonal neuropathySoms (5–29%)

Abnormality of the musculoskeletal system

KenmerkHoe vaak het voorkomt
Arthrogryposis multiplex congenitaVaak (30–79%)
Double-JointedVaak (30–79%)
Lower-limb joint contractureVaak (30–79%)
Muscle weaknessVaak (30–79%)
OsteopeniaVaak (30–79%)
OsteoporosisVaak (30–79%)
Recurrent fracturesVaak (30–79%)
ScoliosisVaak (30–79%)
Bacterial infection of skinSoms (5–29%)
Bone painSoms (5–29%)
Low muscle toneSoms (5–29%)
Polyarticular arthritisSoms (5–29%)

Laboratory abnormality

KenmerkHoe vaak het voorkomt
DehydrationHeel vaak (80–99%)
Glucose in urineHeel vaak (80–99%)
High blood sugarHeel vaak (80–99%)
Neonatal insulin-dependent diabetes mellitusHeel vaak (80–99%)
FeverVaak (30–79%)
High urine albumin levelsVaak (30–79%)
KetonuriaVaak (30–79%)
Pleural empyemaSoms (5–29%)
Type 1 diabetesSoms (5–29%)
Blood in urineZelden (1–4%)

Abnormality of the respiratory system

KenmerkHoe vaak het voorkomt
Partial or complete collapse of part or entire lungHeel vaak (80–99%)
CoughVaak (30–79%)
Exertional breathlessnessVaak (30–79%)
Permanent enlargement of the airways of the lungsVaak (30–79%)
Pulmonary cystVaak (30–79%)
Pulmonary pneumatoceleVaak (30–79%)
Desquamative interstitial pneumonitisSoms (5–29%)
Interstitial pneumonitisSoms (5–29%)
Wet coughSoms (5–29%)

Abnormality of the integument

KenmerkHoe vaak het voorkomt
Generalized abnormality of skinHeel vaak (80–99%)
ItchingHeel vaak (80–99%)
Open skin soreHeel vaak (80–99%)
Abnormality of the hairVaak (30–79%)
PapuleVaak (30–79%)
ParonychiaVaak (30–79%)
Poor fingernail formationVaak (30–79%)
Skin vesicleSoms (5–29%)

Abnormality of the cardiovascular system

KenmerkHoe vaak het voorkomt
Depleted blood volumeHeel vaak (80–99%)
Abnormality of the heartVaak (30–79%)
Enlarged liver and spleenVaak (30–79%)
AneurysmSoms (5–29%)
Swollen lymph nodesSoms (5–29%)
Redness of skin or mucous membraneNiet vastgelegd

Abnormality of the eye

KenmerkHoe vaak het voorkomt
Deeply set eyeVaak (30–79%)
Drooping of both upper eyelidsVaak (30–79%)
Noninflammatory retina diseaseVaak (30–79%)
Wide-set eyesNiet vastgelegd

Growth abnormality

KenmerkHoe vaak het voorkomt
Faltering weightHeel vaak (80–99%)
Weight lossHeel vaak (80–99%)
Prenatal growth deficiencyVaak (30–79%)
Short statureVaak (30–79%)

Abnormality of the ear

KenmerkHoe vaak het voorkomt
Chronic infections of the middle earVaak (30–79%)
DizzinessVaak (30–79%)
Hearing impairmentSoms (5–29%)

Abnormality of the genitourinary system

KenmerkHoe vaak het voorkomt
Abnormal function of filtrating structures in kidneySoms (5–29%)
Abnormality of the upper urinary tractSoms (5–29%)
Abnormal uterus bleedingZelden (1–4%)

Constitutional symptom

KenmerkHoe vaak het voorkomt
FatigueVaak (30–79%)
Chest painSoms (5–29%)
Death of body tissue due to lack of blood flow or infectionZelden (1–4%)

Abnormal cellular phenotype

KenmerkHoe vaak het voorkomt
Increased circulating IgE concentrationHeel vaak (80–99%)
Decreased circulating antibody levelVaak (30–79%)

Abnormality of the endocrine system

KenmerkHoe vaak het voorkomt
Delayed pubertySoms (5–29%)
Underactive thyroidSoms (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 STAT3 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

Eén test. Een leven lang antwoorden.

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

Mijn Genome Test bestellen