Egenskaper

Egenskaper kopplade till BRCA2

BRCA2 DNA repair associated

Human Phenotype Ontology kopplar 212 egenskaper till BRCA2, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

Abnormality of the nervous system

Egenskap	Hur ofta den förekommer
Glioblastoma multiforme	Mycket ofta (80–99 %)
Anxiety	Ofta (30–79 %)
Attention deficit	Ofta (30–79 %)
Behavioral abnormality	Ofta (30–79 %)
Depression	Ofta (30–79 %)
Epilepsy	Ofta (30–79 %)
Global developmental delay	Ofta (30–79 %)
Intellectual disability	Ofta (30–79 %)
Irritability	Ofta (30–79 %)
Migraine	Ofta (30–79 %)
Rise in pressure inside skull	Ofta (30–79 %)
Abnormal gait	Ibland (5–29 %)
Abnormal pyramidal sign	Ibland (5–29 %)
Abnormal shape of nervous system	Ibland (5–29 %)
Abnormal speech pattern	Ibland (5–29 %)
Astrocytoma	Ibland (5–29 %)
Benign neoplasm of the central nervous system	Ibland (5–29 %)
Cancer of early nerve cells	Ibland (5–29 %)
Cranial nerve paralysis	Ibland (5–29 %)
Difficulty articulating speech	Ibland (5–29 %)
Disorder of involuntary muscle movements	Ibland (5–29 %)
Disturbed sensory perception	Ibland (5–29 %)
Dysgraphia	Ibland (5–29 %)
Hallucinations	Ibland (5–29 %)
Increased reflexes	Ibland (5–29 %)
Loss of developmental milestones	Ibland (5–29 %)
Medulloblastoma	Ibland (5–29 %)
Memory impairment	Ibland (5–29 %)
Paralysis or weakness of one side of body	Ibland (5–29 %)
Pins and needles feeling	Ibland (5–29 %)
Split spine	Ibland (5–29 %)
Too much cerebrospinal fluid in the brain	Ibland (5–29 %)
Ventriculomegaly	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Pancreatic adenocarcinoma	Alltid
Abdominal mass	Mycket ofta (80–99 %)
Abdominal pain	Mycket ofta (80–99 %)
Anorexia	Mycket ofta (80–99 %)
Biliary tract neoplasm	Mycket ofta (80–99 %)
Constipation	Mycket ofta (80–99 %)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Mycket ofta (80–99 %)
Jaundice	Mycket ofta (80–99 %)
Malabsorption	Mycket ofta (80–99 %)
Poor appetite	Mycket ofta (80–99 %)
Primary peritoneal carcinoma	Mycket ofta (80–99 %)
Duplication of renal pelvis	Ofta (30–79 %)
Extrahepatic cholestasis	Ofta (30–79 %)
Functional intestinal obstruction	Ofta (30–79 %)
Intestinal pseudo-obstruction	Ofta (30–79 %)
Nausea and vomiting	Ofta (30–79 %)
Rectal tumor	Ofta (30–79 %)
Abnormal connection between trachea and esophagus	Ibland (5–29 %)
Abnormality of the liver	Ibland (5–29 %)
Absent anus	Ibland (5–29 %)
Cancer of the pancreas	Ibland (5–29 %)
Colon cancer	Ibland (5–29 %)
Colon tumor	Ibland (5–29 %)
Duodenal stenosis	Ibland (5–29 %)
Enlarged colon lacking nerve cells	Ibland (5–29 %)
Hepatocellular carcinoma	Ibland (5–29 %)
Intermittent diarrhea	Ibland (5–29 %)
Liver cancer	Ibland (5–29 %)
Meckel diverticulum	Ibland (5–29 %)
Peritoneal abscess	Ibland (5–29 %)
Umbilical hernia	Ibland (5–29 %)
Stomach cancer	Sällan (1–4%)

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Abnormal fallopian tube morphology	Mycket ofta (80–99 %)
Nephroblastoma	Mycket ofta (80–99 %)
Ovarian cancer	Mycket ofta (80–99 %)
Abnormally shaped kidney	Ofta (30–79 %)
Urinary tract abnormalities	Ofta (30–79 %)
Abnormal kidney location	Ibland (5–29 %)
Abnormal localisation of kidneys	Ibland (5–29 %)
Abnormal preputium morphology	Ibland (5–29 %)
Abnormal uterus morphology	Ibland (5–29 %)
Abnormality of the testis	Ibland (5–29 %)
Abnormality of the uterus	Ibland (5–29 %)
Absent sperm in semen	Ibland (5–29 %)
Absent testes	Ibland (5–29 %)
Absent/small kidney	Ibland (5–29 %)
Decreased fertility in males	Ibland (5–29 %)
Frequent urinary tract infections	Ibland (5–29 %)
Heart shaped uterus	Ibland (5–29 %)
Horseshoe kidney	Ibland (5–29 %)
Hydroureter	Ibland (5–29 %)
Hypospadias	Ibland (5–29 %)
Ovarian carcinoma	Ibland (5–29 %)
Prostate cancer	Ibland (5–29 %)
Renal failure	Ibland (5–29 %)
Undescended testes	Ibland (5–29 %)
Urinary tract neoplasm	Ibland (5–29 %)
Varicocele	Ibland (5–29 %)
Uterine cancer	Sällan (1–4%)
Kidney cancer	Inte registrerat

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Abnormality of the thumb	Mycket ofta (80–99 %)
Abnormality of the upper limb	Mycket ofta (80–99 %)
Aplasia/Hypoplasia of the radius	Mycket ofta (80–99 %)
Abnormal feet structure	Ibland (5–29 %)
Abnormal morphology of ulna	Ibland (5–29 %)
Abnormality of the thighbone	Ibland (5–29 %)
Absent/small fingers	Ibland (5–29 %)
Asymmetric overgrowth	Ibland (5–29 %)
Clubbed toes	Ibland (5–29 %)
Curvature of little finger	Ibland (5–29 %)
Dropped arches	Ibland (5–29 %)
Finger syndactyly	Ibland (5–29 %)
Finger-like thumb	Ibland (5–29 %)
Fused toes	Ibland (5–29 %)
Hip dislocation	Ibland (5–29 %)
Short thumb	Ibland (5–29 %)
Underdeveloped inner large forearm bone	Ibland (5–29 %)

Abnormality of head or neck

Egenskap	Hur ofta den förekommer
Abnormally small head	Ofta (30–79 %)
Almond shaped eyes	Ofta (30–79 %)
Short opening between the eyelids	Ofta (30–79 %)
Abnormality of the eyelid	Ibland (5–29 %)
Aplasia/Hypoplasia of the uvula	Ibland (5–29 %)
Blockage of the rear opening of the nasal cavity	Ibland (5–29 %)
Cleft palate	Ibland (5–29 %)
Eye folds	Ibland (5–29 %)
Facial asymmetry	Ibland (5–29 %)
Frontal bossing	Ibland (5–29 %)
High palate	Ibland (5–29 %)
Little lower jaw	Ibland (5–29 %)
Long, narrow head	Ibland (5–29 %)
Sloping forehead	Ibland (5–29 %)
Upward slanting of the opening between the eyelids	Ibland (5–29 %)

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Abnormality of the eye	Ibland (5–29 %)
Abnormality of vision	Ibland (5–29 %)
Abnormally small eyeball	Ibland (5–29 %)
Absent iris	Ibland (5–29 %)
Absent/small iris	Ibland (5–29 %)
Amaurosis fugax	Ibland (5–29 %)
Astigmatism	Ibland (5–29 %)
Bulging eye	Ibland (5–29 %)
Clouding of the lens of the eye	Ibland (5–29 %)
Cross-eyed	Ibland (5–29 %)
Drooping upper eyelid	Ibland (5–29 %)
Involuntary, rapid, rhythmic eye movements	Ibland (5–29 %)
Partial loss of field of vision	Ibland (5–29 %)
Visual impairment	Ibland (5–29 %)
Wide-set eyes	Ibland (5–29 %)

Abnormality of blood and blood-forming tissues

Egenskap	Hur ofta den förekommer
Abnormality of blood and blood-forming tissues	Mycket ofta (80–99 %)
Decreased blood leukocyte number	Mycket ofta (80–99 %)
Low number of red blood cells or hemoglobin	Mycket ofta (80–99 %)
Low platelet count	Mycket ofta (80–99 %)
Pyridoxine-responsive sideroblastic anemia	Mycket ofta (80–99 %)
Acute myeloid leukemia	Ofta (30–79 %)
Gastrointestinal bleeding	Ofta (30–79 %)
B Acute Lymphoblastic Leukemia	Ibland (5–29 %)
Increased red blood cells	Ibland (5–29 %)
Myelodysplasia	Ibland (5–29 %)
Reduced von Willebrand factor activity	Ibland (5–29 %)
T-cell acute lymphoblastic leukemias	Ibland (5–29 %)
Bone marrow failure	Inte registrerat

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Abnormal cardiac septum morphology	Ofta (30–79 %)
Swollen lymph nodes	Ofta (30–79 %)
Abnormal aortic morphology	Ibland (5–29 %)
Abnormal aortic valve morphology	Ibland (5–29 %)
Abnormal carotid artery morphology	Ibland (5–29 %)
An opening in the wall separating the top two chambers of the heart	Ibland (5–29 %)
Arteriovenous malformation	Ibland (5–29 %)
Cardiac diverticulum	Ibland (5–29 %)
Enlarged and thickened heart muscle	Ibland (5–29 %)
Enlarged liver and spleen	Ibland (5–29 %)
High blood pressure	Ibland (5–29 %)
Patent ductus arteriosus	Ibland (5–29 %)
Tetralogy of Fallot	Ibland (5–29 %)

Laboratory abnormality

Egenskap	Hur ofta den förekommer
Clay colored stools	Mycket ofta (80–99 %)
Bloody urine	Ofta (30–79 %)
Abnormality of creatine metabolism	Ibland (5–29 %)
Diabetes mellitus	Ibland (5–29 %)
Fever	Ibland (5–29 %)
High blood calcium levels	Ibland (5–29 %)
High liver enzymes	Ibland (5–29 %)
Small amount of blood in urine	Ibland (5–29 %)

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Abnormal skin pigmentation	Mycket ofta (80–99 %)
Irregular hyperpigmentation	Mycket ofta (80–99 %)
Patchy loss of skin color	Mycket ofta (80–99 %)
Birthmark	Ofta (30–79 %)
Itching	Ofta (30–79 %)
Basal cell carcinoma	Ibland (5–29 %)
Multiple birthmarks	Ibland (5–29 %)

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Back pain	Mycket ofta (80–99 %)
Low muscle tone	Ofta (30–79 %)
Scoliosis	Ofta (30–79 %)
Spasticity and rigidity of muscles	Ofta (30–79 %)
Flexed joint that cannot be straightened	Ibland (5–29 %)
Low solidness and mass of the bones	Ibland (5–29 %)
Skeletal tumor	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Prenatal growth deficiency	Alltid
Short stature	Mycket ofta (80–99 %)
Weight loss	Mycket ofta (80–99 %)
Faltering weight	Ofta (30–79 %)
Growth delay	Ibland (5–29 %)

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Abnormality of the hypothalamus-pituitary axis	Ibland (5–29 %)
Decreased activity of gonads	Ibland (5–29 %)
Neoplasm of the thyroid gland	Ibland (5–29 %)
Noncancerous tumor in pituitary gland	Ibland (5–29 %)

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Abnormally shaped ears	Ibland (5–29 %)
Hearing abnormality	Ibland (5–29 %)
Hearing impairment	Ibland (5–29 %)

Constitutional symptom

Egenskap	Hur ofta den förekommer
Chronic fatigue	Mycket ofta (80–99 %)
Fatigue	Mycket ofta (80–99 %)
Malaise	Ibland (5–29 %)

Abnormal cellular phenotype

Egenskap	Hur ofta den förekommer
Abnormality of chromosome stability	Mycket ofta (80–99 %)
Chromosomal breakage induced by crosslinking agents	Inte registrerat

Abnormal tissue mass

Egenskap	Hur ofta den förekommer
Abnormal tissue mass	Mycket ofta (80–99 %)
Cancer of skin pigment cells	Ibland (5–29 %)

Abnormality of the breast

Egenskap	Hur ofta den förekommer
Breast cancer	Ofta (30–79 %)
Breast tumor	Inte registrerat

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Lung cancer	Ibland (5–29 %)
Breathing difficulty	Sällan (1–4%)

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
Low levels of amniotic fluid	Ibland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till BRCA2 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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