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Kenmerken
Kenmerken gekoppeld aan BRIP1
BRCA1 interacting DNA helicase 1
De Human Phenotype Ontology koppelt 117 kenmerken aan BRIP1, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.
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Abnormality of the genitourinary system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| 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
| Kenmerk | 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%) |
| Short thumb | Soms (5–29%) |
| Underdeveloped inner large forearm bone | Soms (5–29%) |
Abnormality of head or neck
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormally small head | Vaak (30–79%) |
| 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%) |
Abnormality of the eye
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormally small eyeball | Vaak (30–79%) |
| Abnormality of the eye | Soms (5–29%) |
| Abnormality of vision | 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
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormal cardiac septum morphology | 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%) |
| Patent ductus arteriosus | Soms (5–29%) |
| Tetralogy of Fallot | Soms (5–29%) |
Abnormality of the digestive system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Primary peritoneal carcinoma | Heel vaak (80–99%) |
| 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%) |
| Duodenal stenosis | Soms (5–29%) |
| Enlarged colon lacking nerve cells | Soms (5–29%) |
| Meckel diverticulum | Soms (5–29%) |
| Umbilical hernia | Soms (5–29%) |
Abnormality of the nervous system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Global developmental delay | Vaak (30–79%) |
| 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%) |
Abnormality of blood and blood-forming tissues
| Kenmerk | 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%) |
| Bone marrow failure | Niet vastgelegd |
Growth abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Short stature | Heel vaak (80–99%) |
| Growth delay | Soms (5–29%) |
| Prenatal growth deficiency | Soms (5–29%) |
| Weight loss | Soms (5–29%) |
| Growth delay as children | Niet vastgelegd |
Abnormality of the integument
| Kenmerk | 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%) |
| Multiple birthmarks | Vaak (30–79%) |
Abnormality of the ear
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormally shaped ears | Soms (5–29%) |
| Hearing abnormality | Soms (5–29%) |
| Hearing impairment | Soms (5–29%) |
Abnormal cellular phenotype
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormality of chromosome stability | Heel vaak (80–99%) |
| Chromosomal breakage induced by crosslinking agents | Niet vastgelegd |
Abnormal tissue mass
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormal tissue mass | Vaak (30–79%) |
| Cancer of skin pigment cells | Soms (5–29%) |
Abnormality of the endocrine system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Soms (5–29%) |
| Decreased activity of gonads | Soms (5–29%) |
Abnormality of the musculoskeletal system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Scoliosis | Vaak (30–79%) |
| Low solidness and mass of the bones | Soms (5–29%) |
Abnormality of prenatal development or birth
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Low levels of amniotic fluid | Soms (5–29%) |
Abnormality of the breast
| Kenmerk | 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
- De Human Phenotype Ontology, versie 2026-09-01: de aan BRIP1 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.
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