Traits

Traits linked to BRCA1

BRCA1 DNA repair associated

The Human Phenotype Ontology links 159 traits to BRCA1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Pancreatic adenocarcinoma	Alltid
Abdominal bloating	Svært ofte (80–99 %)
Abdominal pain	Svært ofte (80–99 %)
Anorexia	Svært ofte (80–99 %)
Biliary tract neoplasm	Svært ofte (80–99 %)
Constipation	Svært ofte (80–99 %)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Svært ofte (80–99 %)
Jaundice	Svært ofte (80–99 %)
Nausea and vomiting	Svært ofte (80–99 %)
Peritonitis	Svært ofte (80–99 %)
Poor appetite	Svært ofte (80–99 %)
Primary peritoneal carcinoma	Svært ofte (80–99 %)
Extrahepatic cholestasis	Ofte (30–79 %)
Functional intestinal obstruction	Ofte (30–79 %)
Intestinal pseudo-obstruction	Ofte (30–79 %)
Abnormal connection between trachea and esophagus	Noen ganger (5–29 %)
Abnormality of the liver	Noen ganger (5–29 %)
Absent anus	Noen ganger (5–29 %)
Cancer of the pancreas	Noen ganger (5–29 %)
Colon cancer	Noen ganger (5–29 %)
Duodenal stenosis	Noen ganger (5–29 %)
Enlarged colon lacking nerve cells	Noen ganger (5–29 %)
Intermittent diarrhea	Noen ganger (5–29 %)
Liver cancer	Noen ganger (5–29 %)
Meckel diverticulum	Noen ganger (5–29 %)
Peritoneal abscess	Noen ganger (5–29 %)
Umbilical hernia	Noen ganger (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Abnormally small head	Alltid
Coarse facial features	Alltid
Low frontal hairline	Alltid
Prominent nasal bridge	Alltid
Underdeveloped tissue around nostril	Alltid
Almond shaped eyes	Ofte (30–79 %)
Short opening between the eyelids	Ofte (30–79 %)
Abnormality of the eyelid	Noen ganger (5–29 %)
Aplasia/Hypoplasia of the uvula	Noen ganger (5–29 %)
Blockage of the rear opening of the nasal cavity	Noen ganger (5–29 %)
Cleft palate	Noen ganger (5–29 %)
Eye folds	Noen ganger (5–29 %)
Facial asymmetry	Noen ganger (5–29 %)
Frontal bossing	Noen ganger (5–29 %)
High palate	Noen ganger (5–29 %)
Little lower jaw	Noen ganger (5–29 %)
Long, narrow head	Noen ganger (5–29 %)
Sloping forehead	Noen ganger (5–29 %)
Upward slanting of the opening between the eyelids	Noen ganger (5–29 %)
Bad bite	Ikke registrert
Full upper lip	Ikke registrert
Increased size of tooth	Ikke registrert
Long eyelashes	Ikke registrert
Narrow opening between the eyelids	Ikke registrert
Narrow palate	Ikke registrert
Nasal tip, upturned	Ikke registrert

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Ovarian carcinoma	Alltid
Abnormal fallopian tube morphology	Svært ofte (80–99 %)
Ovarian cancer	Svært ofte (80–99 %)
Abnormally shaped kidney	Ofte (30–79 %)
Urinary tract abnormalities	Ofte (30–79 %)
Abnormal localisation of kidneys	Noen ganger (5–29 %)
Abnormal preputium morphology	Noen ganger (5–29 %)
Abnormality of the testis	Noen ganger (5–29 %)
Abnormality of the uterus	Noen ganger (5–29 %)
Absent sperm in semen	Noen ganger (5–29 %)
Absent testes	Noen ganger (5–29 %)
Absent/small kidney	Noen ganger (5–29 %)
Decreased fertility in males	Noen ganger (5–29 %)
Frequent urinary tract infections	Noen ganger (5–29 %)
Heart shaped uterus	Noen ganger (5–29 %)
Hydroureter	Noen ganger (5–29 %)
Hypospadias	Noen ganger (5–29 %)
Prostate cancer	Noen ganger (5–29 %)
Renal failure	Noen ganger (5–29 %)
Undescended testes	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Abnormality of the thumb	Svært ofte (80–99 %)
Abnormality of the upper limb	Svært ofte (80–99 %)
Aplasia/Hypoplasia of the radius	Svært ofte (80–99 %)
Abnormal feet structure	Noen ganger (5–29 %)
Abnormal morphology of ulna	Noen ganger (5–29 %)
Abnormality of the thighbone	Noen ganger (5–29 %)
Absent/small fingers	Noen ganger (5–29 %)
Clubbed toes	Noen ganger (5–29 %)
Curvature of little finger	Noen ganger (5–29 %)
Dropped arches	Noen ganger (5–29 %)
Finger syndactyly	Noen ganger (5–29 %)
Finger-like thumb	Noen ganger (5–29 %)
Fused toes	Noen ganger (5–29 %)
Hip dislocation	Noen ganger (5–29 %)
Underdeveloped inner large forearm bone	Noen ganger (5–29 %)
Attachment of thumb close to wrist	Sjelden (1–4%)
Curvature of digit	Ikke registrert

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormality of the eye	Noen ganger (5–29 %)
Abnormality of vision	Noen ganger (5–29 %)
Abnormally small eyeball	Noen ganger (5–29 %)
Absent/small iris	Noen ganger (5–29 %)
Astigmatism	Noen ganger (5–29 %)
Bulging eye	Noen ganger (5–29 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Cross-eyed	Noen ganger (5–29 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Involuntary, rapid, rhythmic eye movements	Noen ganger (5–29 %)
Visual impairment	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Abnormal cardiac septum morphology	Ofte (30–79 %)
Swollen lymph nodes	Ofte (30–79 %)
Abnormal aortic morphology	Noen ganger (5–29 %)
Abnormal aortic valve morphology	Noen ganger (5–29 %)
Abnormal carotid artery morphology	Noen ganger (5–29 %)
An opening in the wall separating the top two chambers of the heart	Noen ganger (5–29 %)
Arteriovenous malformation	Noen ganger (5–29 %)
Enlarged and thickened heart muscle	Noen ganger (5–29 %)
Enlarged liver and spleen	Noen ganger (5–29 %)
Patent ductus arteriosus	Noen ganger (5–29 %)
Tetralogy of Fallot	Noen ganger (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Global developmental delay	Alltid
Intellectual disability	Ofte (30–79 %)
Abnormal shape of nervous system	Noen ganger (5–29 %)
Cranial nerve paralysis	Noen ganger (5–29 %)
Increased reflexes	Noen ganger (5–29 %)
Split spine	Noen ganger (5–29 %)
Too much cerebrospinal fluid in the brain	Noen ganger (5–29 %)
Ventriculomegaly	Noen ganger (5–29 %)
Delayed speech and language development	Ikke registrert

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Abnormality of blood and blood-forming tissues	Svært ofte (80–99 %)
Decreased blood leukocyte number	Svært ofte (80–99 %)
Low number of red blood cells or hemoglobin	Svært ofte (80–99 %)
Low platelet count	Svært ofte (80–99 %)
Pyridoxine-responsive sideroblastic anemia	Svært ofte (80–99 %)
Myelodysplasia	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Abnormal skin pigmentation	Svært ofte (80–99 %)
Irregular hyperpigmentation	Svært ofte (80–99 %)
Patchy loss of skin color	Svært ofte (80–99 %)
Itching	Ofte (30–79 %)
Multiple birthmarks	Noen ganger (5–29 %)
Sparse hair	Ikke registrert

Growth abnormality

Trait	Hvor ofte den forekommer
Short stature	Alltid
Weight loss	Svært ofte (80–99 %)
Growth delay	Noen ganger (5–29 %)
Prenatal growth deficiency	Noen ganger (5–29 %)
Faltering weight	Ikke registrert

Laboratory abnormality

Trait	Hvor ofte den forekommer
Clay colored stools	Svært ofte (80–99 %)
Diabetes mellitus	Noen ganger (5–29 %)
Fever	Noen ganger (5–29 %)
High liver enzymes	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Abnormally shaped ears	Noen ganger (5–29 %)
Hearing abnormality	Noen ganger (5–29 %)
Hearing impairment	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Back pain	Svært ofte (80–99 %)
Scoliosis	Ofte (30–79 %)
Low solidness and mass of the bones	Noen ganger (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Abnormality of chromosome stability	Svært ofte (80–99 %)
Chromosome breakage	Ikke registrert

Abnormal tissue mass

Trait	Hvor ofte den forekommer
Abnormal tissue mass	Svært ofte (80–99 %)
Cancer of skin pigment cells	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Abnormality of the hypothalamus-pituitary axis	Noen ganger (5–29 %)
Decreased activity of gonads	Noen ganger (5–29 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Chronic fatigue	Svært ofte (80–99 %)
Fatigue	Ofte (30–79 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Low levels of amniotic fluid	Noen ganger (5–29 %)

Abnormality of the breast

Trait	Hvor ofte den forekommer
Breast cancer	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

The Human Phenotype Ontology, release 2026-09-01: the traits linked to BRCA1 and how often each is seen. Find out more at hpo.jax.org.

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