AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
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.
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
Abnormality of the digestive system
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormally small head | Always |
| Coarse facial features | Always |
| Low frontal hairline | Always |
| Prominent nasal bridge | Always |
| Underdeveloped tissue around nostril | Always |
| Almond shaped eyes | Often (30–79%) |
| Short opening between the eyelids | Often (30–79%) |
| Abnormality of the eyelid | Sometimes (5–29%) |
| Aplasia/Hypoplasia of the uvula | Sometimes (5–29%) |
| Blockage of the rear opening of the nasal cavity | Sometimes (5–29%) |
| Cleft palate | Sometimes (5–29%) |
| Eye folds | Sometimes (5–29%) |
| Facial asymmetry | Sometimes (5–29%) |
| Frontal bossing | Sometimes (5–29%) |
| High palate | Sometimes (5–29%) |
| Little lower jaw | Sometimes (5–29%) |
| Long, narrow head | Sometimes (5–29%) |
| Sloping forehead | Sometimes (5–29%) |
| Upward slanting of the opening between the eyelids | Sometimes (5–29%) |
| Bad bite | Not recorded |
| Full upper lip | Not recorded |
| Increased size of tooth | Not recorded |
| Long eyelashes | Not recorded |
| Narrow opening between the eyelids | Not recorded |
| Narrow palate | Not recorded |
| Nasal tip, upturned | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Ovarian carcinoma | Always |
| Abnormal fallopian tube morphology | Very often (80–99%) |
| Ovarian cancer | Very often (80–99%) |
| Abnormally shaped kidney | Often (30–79%) |
| Urinary tract abnormalities | Often (30–79%) |
| Abnormal localisation of kidneys | Sometimes (5–29%) |
| Abnormal preputium morphology | Sometimes (5–29%) |
| Abnormality of the testis | Sometimes (5–29%) |
| Abnormality of the uterus | Sometimes (5–29%) |
| Absent sperm in semen | Sometimes (5–29%) |
| Absent testes | Sometimes (5–29%) |
| Absent/small kidney | Sometimes (5–29%) |
| Decreased fertility in males | Sometimes (5–29%) |
| Frequent urinary tract infections | Sometimes (5–29%) |
| Heart shaped uterus | Sometimes (5–29%) |
| Hydroureter | Sometimes (5–29%) |
| Hypospadias | Sometimes (5–29%) |
| Prostate cancer | Sometimes (5–29%) |
| Renal failure | Sometimes (5–29%) |
| Undescended testes | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Abnormality of the thumb | Very often (80–99%) |
| Abnormality of the upper limb | Very often (80–99%) |
| Aplasia/Hypoplasia of the radius | Very often (80–99%) |
| Abnormal feet structure | Sometimes (5–29%) |
| Abnormal morphology of ulna | Sometimes (5–29%) |
| Abnormality of the thighbone | Sometimes (5–29%) |
| Absent/small fingers | Sometimes (5–29%) |
| Clubbed toes | Sometimes (5–29%) |
| Curvature of little finger | Sometimes (5–29%) |
| Dropped arches | Sometimes (5–29%) |
| Finger syndactyly | Sometimes (5–29%) |
| Finger-like thumb | Sometimes (5–29%) |
| Fused toes | Sometimes (5–29%) |
| Hip dislocation | Sometimes (5–29%) |
| Underdeveloped inner large forearm bone | Sometimes (5–29%) |
| Attachment of thumb close to wrist | Rarely (1–4%) |
| Curvature of digit | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Abnormality of the eye | Sometimes (5–29%) |
| Abnormality of vision | Sometimes (5–29%) |
| Abnormally small eyeball | Sometimes (5–29%) |
| Absent/small iris | Sometimes (5–29%) |
| Astigmatism | Sometimes (5–29%) |
| Bulging eye | Sometimes (5–29%) |
| Clouding of the lens of the eye | Sometimes (5–29%) |
| Cross-eyed | Sometimes (5–29%) |
| Drooping upper eyelid | Sometimes (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Sometimes (5–29%) |
| Visual impairment | Sometimes (5–29%) |
| Wide-set eyes | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormal cardiac septum morphology | Often (30–79%) |
| Swollen lymph nodes | Often (30–79%) |
| Abnormal aortic morphology | Sometimes (5–29%) |
| Abnormal aortic valve morphology | Sometimes (5–29%) |
| Abnormal carotid artery morphology | Sometimes (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Sometimes (5–29%) |
| Arteriovenous malformation | Sometimes (5–29%) |
| Enlarged and thickened heart muscle | Sometimes (5–29%) |
| Enlarged liver and spleen | Sometimes (5–29%) |
| Patent ductus arteriosus | Sometimes (5–29%) |
| Tetralogy of Fallot | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Global developmental delay | Always |
| Intellectual disability | Often (30–79%) |
| Abnormal shape of nervous system | Sometimes (5–29%) |
| Cranial nerve paralysis | Sometimes (5–29%) |
| Increased reflexes | Sometimes (5–29%) |
| Split spine | Sometimes (5–29%) |
| Too much cerebrospinal fluid in the brain | Sometimes (5–29%) |
| Ventriculomegaly | Sometimes (5–29%) |
| Delayed speech and language development | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Abnormality of blood and blood-forming tissues | Very often (80–99%) |
| Decreased blood leukocyte number | Very often (80–99%) |
| Low number of red blood cells or hemoglobin | Very often (80–99%) |
| Low platelet count | Very often (80–99%) |
| Pyridoxine-responsive sideroblastic anemia | Very often (80–99%) |
| Myelodysplasia | Sometimes (5–29%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Abnormal skin pigmentation | Very often (80–99%) |
| Irregular hyperpigmentation | Very often (80–99%) |
| Patchy loss of skin color | Very often (80–99%) |
| Itching | Often (30–79%) |
| Multiple birthmarks | Sometimes (5–29%) |
| Sparse hair | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | Always |
| Weight loss | Very often (80–99%) |
| Growth delay | Sometimes (5–29%) |
| Prenatal growth deficiency | Sometimes (5–29%) |
| Faltering weight | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Clay colored stools | Very often (80–99%) |
| Diabetes mellitus | Sometimes (5–29%) |
| Fever | Sometimes (5–29%) |
| High liver enzymes | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Abnormally shaped ears | Sometimes (5–29%) |
| Hearing abnormality | Sometimes (5–29%) |
| Hearing impairment | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Back pain | Very often (80–99%) |
| Scoliosis | Often (30–79%) |
| Low solidness and mass of the bones | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Abnormality of chromosome stability | Very often (80–99%) |
| Chromosome breakage | Not recorded |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Abnormal tissue mass | Very often (80–99%) |
| Cancer of skin pigment cells | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Sometimes (5–29%) |
| Decreased activity of gonads | Sometimes (5–29%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Chronic fatigue | Very often (80–99%) |
| Fatigue | Often (30–79%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Low levels of amniotic fluid | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Breast cancer | Often (30–79%) |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- 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.
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks