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

Abnormality of head or neck

Trait	Hoe vaak het voorkomt
Abnormally small head	Altijd
Coarse facial features	Altijd
Low frontal hairline	Altijd
Prominent nasal bridge	Altijd
Underdeveloped tissue around nostril	Altijd
Almond shaped eyes	Vaak (30–79%)
Short opening between the eyelids	Vaak (30–79%)
Abnormality of the eyelid	Soms (5–29%)
Aplasia/Hypoplasia of the uvula	Soms (5–29%)
Blockage of the rear opening of the nasal cavity	Soms (5–29%)
Cleft palate	Soms (5–29%)
Eye folds	Soms (5–29%)
Facial asymmetry	Soms (5–29%)
Frontal bossing	Soms (5–29%)
High palate	Soms (5–29%)
Little lower jaw	Soms (5–29%)
Long, narrow head	Soms (5–29%)
Sloping forehead	Soms (5–29%)
Upward slanting of the opening between the eyelids	Soms (5–29%)
Bad bite	Niet vastgelegd
Full upper lip	Niet vastgelegd
Increased size of tooth	Niet vastgelegd
Long eyelashes	Niet vastgelegd
Narrow opening between the eyelids	Niet vastgelegd
Narrow palate	Niet vastgelegd
Nasal tip, upturned	Niet vastgelegd

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Ovarian carcinoma	Altijd
Abnormal fallopian tube morphology	Heel vaak (80–99%)
Ovarian cancer	Heel vaak (80–99%)
Abnormally shaped kidney	Vaak (30–79%)
Urinary tract abnormalities	Vaak (30–79%)
Abnormal localisation of kidneys	Soms (5–29%)
Abnormal preputium morphology	Soms (5–29%)
Abnormality of the testis	Soms (5–29%)
Abnormality of the uterus	Soms (5–29%)
Absent sperm in semen	Soms (5–29%)
Absent testes	Soms (5–29%)
Absent/small kidney	Soms (5–29%)
Decreased fertility in males	Soms (5–29%)
Frequent urinary tract infections	Soms (5–29%)
Heart shaped uterus	Soms (5–29%)
Hydroureter	Soms (5–29%)
Hypospadias	Soms (5–29%)
Prostate cancer	Soms (5–29%)
Renal failure	Soms (5–29%)
Undescended testes	Soms (5–29%)

Abnormality of limbs

Trait	Hoe vaak het voorkomt
Abnormality of the thumb	Heel vaak (80–99%)
Abnormality of the upper limb	Heel vaak (80–99%)
Aplasia/Hypoplasia of the radius	Heel vaak (80–99%)
Abnormal feet structure	Soms (5–29%)
Abnormal morphology of ulna	Soms (5–29%)
Abnormality of the thighbone	Soms (5–29%)
Absent/small fingers	Soms (5–29%)
Clubbed toes	Soms (5–29%)
Curvature of little finger	Soms (5–29%)
Dropped arches	Soms (5–29%)
Finger syndactyly	Soms (5–29%)
Finger-like thumb	Soms (5–29%)
Fused toes	Soms (5–29%)
Hip dislocation	Soms (5–29%)
Underdeveloped inner large forearm bone	Soms (5–29%)
Attachment of thumb close to wrist	Zelden (1–4%)
Curvature of digit	Niet vastgelegd

Abnormality of the eye

Trait	Hoe vaak het voorkomt
Abnormality of the eye	Soms (5–29%)
Abnormality of vision	Soms (5–29%)
Abnormally small eyeball	Soms (5–29%)
Absent/small iris	Soms (5–29%)
Astigmatism	Soms (5–29%)
Bulging eye	Soms (5–29%)
Clouding of the lens of the eye	Soms (5–29%)
Cross-eyed	Soms (5–29%)
Drooping upper eyelid	Soms (5–29%)
Involuntary, rapid, rhythmic eye movements	Soms (5–29%)
Visual impairment	Soms (5–29%)
Wide-set eyes	Soms (5–29%)

Abnormality of the cardiovascular system

Trait	Hoe vaak het voorkomt
Abnormal cardiac septum morphology	Vaak (30–79%)
Swollen lymph nodes	Vaak (30–79%)
Abnormal aortic morphology	Soms (5–29%)
Abnormal aortic valve morphology	Soms (5–29%)
Abnormal carotid artery morphology	Soms (5–29%)
An opening in the wall separating the top two chambers of the heart	Soms (5–29%)
Arteriovenous malformation	Soms (5–29%)
Enlarged and thickened heart muscle	Soms (5–29%)
Enlarged liver and spleen	Soms (5–29%)
Patent ductus arteriosus	Soms (5–29%)
Tetralogy of Fallot	Soms (5–29%)

Abnormality of the nervous system

Trait	Hoe vaak het voorkomt
Global developmental delay	Altijd
Intellectual disability	Vaak (30–79%)
Abnormal shape of nervous system	Soms (5–29%)
Cranial nerve paralysis	Soms (5–29%)
Increased reflexes	Soms (5–29%)
Split spine	Soms (5–29%)
Too much cerebrospinal fluid in the brain	Soms (5–29%)
Ventriculomegaly	Soms (5–29%)
Delayed speech and language development	Niet vastgelegd

Abnormality of blood and blood-forming tissues

Trait	Hoe vaak het voorkomt
Abnormality of blood and blood-forming tissues	Heel vaak (80–99%)
Decreased blood leukocyte number	Heel vaak (80–99%)
Low number of red blood cells or hemoglobin	Heel vaak (80–99%)
Low platelet count	Heel vaak (80–99%)
Pyridoxine-responsive sideroblastic anemia	Heel vaak (80–99%)
Myelodysplasia	Soms (5–29%)

Abnormality of the integument

Trait	Hoe vaak het voorkomt
Abnormal skin pigmentation	Heel vaak (80–99%)
Irregular hyperpigmentation	Heel vaak (80–99%)
Patchy loss of skin color	Heel vaak (80–99%)
Itching	Vaak (30–79%)
Multiple birthmarks	Soms (5–29%)
Sparse hair	Niet vastgelegd

Growth abnormality

Trait	Hoe vaak het voorkomt
Short stature	Altijd
Weight loss	Heel vaak (80–99%)
Growth delay	Soms (5–29%)
Prenatal growth deficiency	Soms (5–29%)
Faltering weight	Niet vastgelegd

Laboratory abnormality

Trait	Hoe vaak het voorkomt
Clay colored stools	Heel vaak (80–99%)
Diabetes mellitus	Soms (5–29%)
Fever	Soms (5–29%)
High liver enzymes	Soms (5–29%)

Abnormality of the ear

Trait	Hoe vaak het voorkomt
Abnormally shaped ears	Soms (5–29%)
Hearing abnormality	Soms (5–29%)
Hearing impairment	Soms (5–29%)

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Back pain	Heel vaak (80–99%)
Scoliosis	Vaak (30–79%)
Low solidness and mass of the bones	Soms (5–29%)

Abnormal cellular phenotype

Trait	Hoe vaak het voorkomt
Abnormality of chromosome stability	Heel vaak (80–99%)
Chromosome breakage	Niet vastgelegd

Abnormal tissue mass

Trait	Hoe vaak het voorkomt
Abnormal tissue mass	Heel vaak (80–99%)
Cancer of skin pigment cells	Soms (5–29%)

Abnormality of the endocrine system

Trait	Hoe vaak het voorkomt
Abnormality of the hypothalamus-pituitary axis	Soms (5–29%)
Decreased activity of gonads	Soms (5–29%)

Constitutional symptom

Trait	Hoe vaak het voorkomt
Chronic fatigue	Heel vaak (80–99%)
Fatigue	Vaak (30–79%)

Abnormality of prenatal development or birth

Trait	Hoe vaak het voorkomt
Low levels of amniotic fluid	Soms (5–29%)

Abnormality of the breast

Trait	Hoe vaak het voorkomt
Breast cancer	Vaak (30–79%)

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

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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