Traits

Traits linked to PMS2

PMS1 homolog 2, mismatch repair system component

The Human Phenotype Ontology links 67 traits to PMS2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Agenesis of corpus callosum	Visada
Glioblastoma multiforme	Labai dažnai (80–99%)
Anxiety	Dažnai (30–79%)
Astrocytoma	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Depression	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Gray matter heterotopia	Dažnai (30–79%)
Irritability	Dažnai (30–79%)
Migraine	Dažnai (30–79%)
Rise in pressure inside skull	Dažnai (30–79%)
Abnormal gait	Kartais (5–29%)
Abnormal pyramidal sign	Kartais (5–29%)
Abnormal speech pattern	Kartais (5–29%)
Benign neoplasm of the central nervous system	Kartais (5–29%)
Cancer of early nerve cells	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Disorder of involuntary muscle movements	Kartais (5–29%)
Disturbed sensory perception	Kartais (5–29%)
Dysgraphia	Kartais (5–29%)
Hallucinations	Kartais (5–29%)
Loss of developmental milestones	Kartais (5–29%)
Memory impairment	Kartais (5–29%)
Paralysis or weakness of one side of body	Kartais (5–29%)
Pins and needles feeling	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Abdominal pain	Labai dažnai (80–99%)
Constipation	Labai dažnai (80–99%)
Malabsorption	Labai dažnai (80–99%)
Colon cancer	Dažnai (30–79%)
Nausea and vomiting	Dažnai (30–79%)
Rectal tumor	Dažnai (30–79%)
Stomach tumor	Dažnai (30–79%)
Cancer of the pancreas	Kartais (5–29%)
Growths in inner lining of intestine	Kartais (5–29%)
Hepatocellular carcinoma	Kartais (5–29%)
Liver cancer	Kartais (5–29%)
Pancreatic adenocarcinoma	Kartais (5–29%)
Adenomatous colonic polyposis	Neužfiksuota
Hereditary nonpolyposis colorectal carcinoma	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Endometrial carcinoma	Kartais (5–29%)
Kidney cancer	Kartais (5–29%)
Malignant genitourinary tract tumor	Kartais (5–29%)
Ovarian cancer	Kartais (5–29%)
Urinary tract neoplasm	Kartais (5–29%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Low muscle tone	Dažnai (30–79%)
Spasticity and rigidity of muscles	Dažnai (30–79%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Skeletal tumor	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Gastrointestinal bleeding	Labai dažnai (80–99%)
Blood tumor	Kartais (5–29%)
Non-Hodgkin lymphoma	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Amaurosis fugax	Kartais (5–29%)
Partial loss of field of vision	Kartais (5–29%)
Visual impairment	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Skin cancer	Labai dažnai (80–99%)
Basal cell carcinoma	Kartais (5–29%)
Multiple birthmarks	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Adenoma sebaceum	Labai dažnai (80–99%)
Cancer of salivary gland	Kartais (5–29%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Neoplasm of the thyroid gland	Kartais (5–29%)
Noncancerous tumor in pituitary gland	Kartais (5–29%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Breast cancer	Kartais (5–29%)

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Cardiac diverticulum	Kartais (5–29%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Laryngeal carcinoma	Kartais (5–29%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Fatigue	Labai dažnai (80–99%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Weight loss	Labai dažnai (80–99%)

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.

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The Human Phenotype Ontology, release 2026-09-01: the traits linked to PMS2 and how often each is seen. Find out more at hpo.jax.org.

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