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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.
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Abnormality of the digestive system
Abnormality of head or neck
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormally small head | Alati |
| Coarse facial features | Alati |
| Low frontal hairline | Alati |
| Prominent nasal bridge | Alati |
| Underdeveloped tissue around nostril | Alati |
| Almond shaped eyes | Sageli (30–79%) |
| Short opening between the eyelids | Sageli (30–79%) |
| Abnormality of the eyelid | Mõnikord (5–29%) |
| Aplasia/Hypoplasia of the uvula | Mõnikord (5–29%) |
| Blockage of the rear opening of the nasal cavity | Mõnikord (5–29%) |
| Cleft palate | Mõnikord (5–29%) |
| Eye folds | Mõnikord (5–29%) |
| Facial asymmetry | Mõnikord (5–29%) |
| Frontal bossing | Mõnikord (5–29%) |
| High palate | Mõnikord (5–29%) |
| Little lower jaw | Mõnikord (5–29%) |
| Long, narrow head | Mõnikord (5–29%) |
| Sloping forehead | Mõnikord (5–29%) |
| Upward slanting of the opening between the eyelids | Mõnikord (5–29%) |
| Bad bite | Pole registreeritud |
| Full upper lip | Pole registreeritud |
| Increased size of tooth | Pole registreeritud |
| Long eyelashes | Pole registreeritud |
| Narrow opening between the eyelids | Pole registreeritud |
| Narrow palate | Pole registreeritud |
| Nasal tip, upturned | Pole registreeritud |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Ovarian carcinoma | Alati |
| Abnormal fallopian tube morphology | Väga sageli (80–99%) |
| Ovarian cancer | Väga sageli (80–99%) |
| Abnormally shaped kidney | Sageli (30–79%) |
| Urinary tract abnormalities | Sageli (30–79%) |
| Abnormal localisation of kidneys | Mõnikord (5–29%) |
| Abnormal preputium morphology | Mõnikord (5–29%) |
| Abnormality of the testis | Mõnikord (5–29%) |
| Abnormality of the uterus | Mõnikord (5–29%) |
| Absent sperm in semen | Mõnikord (5–29%) |
| Absent testes | Mõnikord (5–29%) |
| Absent/small kidney | Mõnikord (5–29%) |
| Decreased fertility in males | Mõnikord (5–29%) |
| Frequent urinary tract infections | Mõnikord (5–29%) |
| Heart shaped uterus | Mõnikord (5–29%) |
| Hydroureter | Mõnikord (5–29%) |
| Hypospadias | Mõnikord (5–29%) |
| Prostate cancer | Mõnikord (5–29%) |
| Renal failure | Mõnikord (5–29%) |
| Undescended testes | Mõnikord (5–29%) |
Abnormality of limbs
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the thumb | Väga sageli (80–99%) |
| Abnormality of the upper limb | Väga sageli (80–99%) |
| Aplasia/Hypoplasia of the radius | Väga sageli (80–99%) |
| Abnormal feet structure | Mõnikord (5–29%) |
| Abnormal morphology of ulna | Mõnikord (5–29%) |
| Abnormality of the thighbone | Mõnikord (5–29%) |
| Absent/small fingers | Mõnikord (5–29%) |
| Clubbed toes | Mõnikord (5–29%) |
| Curvature of little finger | Mõnikord (5–29%) |
| Dropped arches | Mõnikord (5–29%) |
| Finger syndactyly | Mõnikord (5–29%) |
| Finger-like thumb | Mõnikord (5–29%) |
| Fused toes | Mõnikord (5–29%) |
| Hip dislocation | Mõnikord (5–29%) |
| Underdeveloped inner large forearm bone | Mõnikord (5–29%) |
| Attachment of thumb close to wrist | Harva (1–4%) |
| Curvature of digit | Pole registreeritud |
Abnormality of the eye
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the eye | Mõnikord (5–29%) |
| Abnormality of vision | Mõnikord (5–29%) |
| Abnormally small eyeball | Mõnikord (5–29%) |
| Absent/small iris | Mõnikord (5–29%) |
| Astigmatism | Mõnikord (5–29%) |
| Bulging eye | Mõnikord (5–29%) |
| Clouding of the lens of the eye | Mõnikord (5–29%) |
| Cross-eyed | Mõnikord (5–29%) |
| Drooping upper eyelid | Mõnikord (5–29%) |
| Involuntary, rapid, rhythmic eye movements | Mõnikord (5–29%) |
| Visual impairment | Mõnikord (5–29%) |
| Wide-set eyes | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal cardiac septum morphology | Sageli (30–79%) |
| Swollen lymph nodes | Sageli (30–79%) |
| Abnormal aortic morphology | Mõnikord (5–29%) |
| Abnormal aortic valve morphology | Mõnikord (5–29%) |
| Abnormal carotid artery morphology | Mõnikord (5–29%) |
| An opening in the wall separating the top two chambers of the heart | Mõnikord (5–29%) |
| Arteriovenous malformation | Mõnikord (5–29%) |
| Enlarged and thickened heart muscle | Mõnikord (5–29%) |
| Enlarged liver and spleen | Mõnikord (5–29%) |
| Patent ductus arteriosus | Mõnikord (5–29%) |
| Tetralogy of Fallot | Mõnikord (5–29%) |
Abnormality of the nervous system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Global developmental delay | Alati |
| Intellectual disability | Sageli (30–79%) |
| Abnormal shape of nervous system | Mõnikord (5–29%) |
| Cranial nerve paralysis | Mõnikord (5–29%) |
| Increased reflexes | Mõnikord (5–29%) |
| Split spine | Mõnikord (5–29%) |
| Too much cerebrospinal fluid in the brain | Mõnikord (5–29%) |
| Ventriculomegaly | Mõnikord (5–29%) |
| Delayed speech and language development | Pole registreeritud |
Abnormality of blood and blood-forming tissues
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of blood and blood-forming tissues | Väga sageli (80–99%) |
| Decreased blood leukocyte number | Väga sageli (80–99%) |
| Low number of red blood cells or hemoglobin | Väga sageli (80–99%) |
| Low platelet count | Väga sageli (80–99%) |
| Pyridoxine-responsive sideroblastic anemia | Väga sageli (80–99%) |
| Myelodysplasia | Mõnikord (5–29%) |
Abnormality of the integument
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal skin pigmentation | Väga sageli (80–99%) |
| Irregular hyperpigmentation | Väga sageli (80–99%) |
| Patchy loss of skin color | Väga sageli (80–99%) |
| Itching | Sageli (30–79%) |
| Multiple birthmarks | Mõnikord (5–29%) |
| Sparse hair | Pole registreeritud |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Short stature | Alati |
| Weight loss | Väga sageli (80–99%) |
| Growth delay | Mõnikord (5–29%) |
| Prenatal growth deficiency | Mõnikord (5–29%) |
| Faltering weight | Pole registreeritud |
Laboratory abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Clay colored stools | Väga sageli (80–99%) |
| Diabetes mellitus | Mõnikord (5–29%) |
| Fever | Mõnikord (5–29%) |
| High liver enzymes | Mõnikord (5–29%) |
Abnormality of the ear
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormally shaped ears | Mõnikord (5–29%) |
| Hearing abnormality | Mõnikord (5–29%) |
| Hearing impairment | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Back pain | Väga sageli (80–99%) |
| Scoliosis | Sageli (30–79%) |
| Low solidness and mass of the bones | Mõnikord (5–29%) |
Abnormal cellular phenotype
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of chromosome stability | Väga sageli (80–99%) |
| Chromosome breakage | Pole registreeritud |
Abnormal tissue mass
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal tissue mass | Väga sageli (80–99%) |
| Cancer of skin pigment cells | Mõnikord (5–29%) |
Abnormality of the endocrine system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Mõnikord (5–29%) |
| Decreased activity of gonads | Mõnikord (5–29%) |
Constitutional symptom
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Chronic fatigue | Väga sageli (80–99%) |
| Fatigue | Sageli (30–79%) |
Abnormality of prenatal development or birth
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Low levels of amniotic fluid | Mõnikord (5–29%) |
Abnormality of the breast
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Breast cancer | Sageli (30–79%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- 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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