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Traits

Traits linked to ENG

endoglin

The Human Phenotype Ontology links 85 traits to ENG, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Cerebral berry aneurysmAlati
Spider veinsAlati
Telangiectasia of the skinAlati
Mucosal telangiectasiaeVäga sageli (80–99%)
Abnormal cardiovascular system physiologySageli (30–79%)
Abnormal circle of Willis morphologySageli (30–79%)
Arteriovenous malformationSageli (30–79%)
Hepatic arteriovenous malformationSageli (30–79%)
High blood pressureSageli (30–79%)
Mini strokeSageli (30–79%)
Narrowing and hardening of arteriesSageli (30–79%)
Portal hypertensionSageli (30–79%)
Pulmonary arteriovenous malformationSageli (30–79%)
Visceral angiomatosisSageli (30–79%)
Abnormality of the cerebral blood vesselsMõnikord (5–29%)
Blood clot in artery of lungMõnikord (5–29%)
Bulge in wall of root of large artery that carries blood away from heartMõnikord (5–29%)
Cardiac failureMõnikord (5–29%)
Cerebral arteriovenous malformationMõnikord (5–29%)
Gastrointestinal arteriovenous malformationMõnikord (5–29%)
Increased blood pressure in blood vessels of lungsMõnikord (5–29%)
Peripheral arteriovenous fistulaMõnikord (5–29%)
Retinal telangiectasiaMõnikord (5–29%)
Tear in inner wall of large artery that carries blood away from heartMõnikord (5–29%)
Arteriovenous fistulas of celiac and mesenteric vesselsPole registreeritud
Dilatation of celiac arteryPole registreeritud
Dilatation of mesenteric arteryPole registreeritud
Gastrointestinal angiodysplasiaPole registreeritud
High-output congestive heart failurePole registreeritud
Ischemic strokePole registreeritud
Nail bed telangiectasiaPole registreeritud
Right-to-left shuntPole registreeritud
Small dilated blood vessels in fingerpadsPole registreeritud
Small, enlarged blood vessels near skinPole registreeritud
Spinal arteriovenous malformationPole registreeritud
Venous varicosities of celiac and mesenteric vesselsPole registreeritud

Abnormality of blood and blood-forming tissues

TraitKui sageli seda täheldatakse
Recurring nosebleedAlati
Bleeding tendencyVäga sageli (80–99%)
Bloody noseVäga sageli (80–99%)
Low number of red blood cells or hemoglobinSageli (30–79%)
Rectal bleedingSageli (30–79%)
Bleeding in brainMõnikord (5–29%)
Bleeding within the skullMõnikord (5–29%)
Blood clot in veinMõnikord (5–29%)
Gastrointestinal bleedingMõnikord (5–29%)
Subarachnoid hemorrhageMõnikord (5–29%)
Black fecesPole registreeritud
Increased red blood cellsPole registreeritud
Pulmonary hemorrhagePole registreeritud
Vomiting bloodPole registreeritud

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Adenomatous colonic polyposisSageli (30–79%)
Rectal polyposisSageli (30–79%)
Enlarged vein in esophagusMõnikord (5–29%)
Growths in inner lining of intestineMõnikord (5–29%)
Liver failureMõnikord (5–29%)
Multiple gastric polypsMõnikord (5–29%)
Scar tissue replaces healthy tissue in the liverMõnikord (5–29%)
Duodenal polyposisHarva (1–4%)
Small intestinal polyposisHarva (1–4%)

Abnormality of the respiratory system

TraitKui sageli seda täheldatakse
Breathing difficultyAlati
Coughing up bloodAlati
Reduced FEV1/FVC ratioMõnikord (5–29%)
Stiff lung or chest wall causing decreased lung volumeMõnikord (5–29%)
Exertional breathlessnessPole registreeritud
HemothoraxPole registreeritud
Low blood oxygen levelPole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Spider veins of mucosa of noseVäga sageli (80–99%)
Spider veins of the lipVäga sageli (80–99%)
Spider veins of the tongueVäga sageli (80–99%)
Small dilated blood vessels near membrane covering front of eye and eyelidsMõnikord (5–29%)
Palatal spider veinsPole registreeritud

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Abnormal shape of brainstemSageli (30–79%)
EpilepsySageli (30–79%)
MigraineSageli (30–79%)
Weakness of one side of bodySageli (30–79%)
EncephalomalaciaMõnikord (5–29%)

Abnormality of the eye

TraitKui sageli seda täheldatakse
Partial loss of field of visionSageli (30–79%)
Oculomotor nerve palsyMõnikord (5–29%)

Abnormality of the integument

TraitKui sageli seda täheldatakse
Anemic pallorSageli (30–79%)
Blue discoloration of the skinPole registreeritud

Abnormality of limbs

TraitKui sageli seda täheldatakse
Clubbing of fingers and toesPole registreeritud

Abnormality of the immune system

TraitKui sageli seda täheldatakse
Brain abscessPole registreeritud

Constitutional symptom

TraitKui sageli seda täheldatakse
Chest painPole registreeritud

Growth abnormality

TraitKui sageli seda täheldatakse
Growth delayMõnikord (5–29%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Fluid retentionMõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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

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