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Egenskaper

Egenskaper kopplade till BRCA1

BRCA1 DNA repair associated

Human Phenotype Ontology kopplar 159 egenskaper till BRCA1, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

Abnormality of the digestive system

EgenskapHur ofta den förekommer
Pancreatic adenocarcinomaAlltid
Abdominal bloatingMycket ofta (80–99 %)
Abdominal painMycket ofta (80–99 %)
AnorexiaMycket ofta (80–99 %)
Biliary tract neoplasmMycket ofta (80–99 %)
ConstipationMycket ofta (80–99 %)
Inability to properly digest food due to lack of pancreatic digestive enzymesMycket ofta (80–99 %)
JaundiceMycket ofta (80–99 %)
Nausea and vomitingMycket ofta (80–99 %)
PeritonitisMycket ofta (80–99 %)
Poor appetiteMycket ofta (80–99 %)
Primary peritoneal carcinomaMycket ofta (80–99 %)
Extrahepatic cholestasisOfta (30–79 %)
Functional intestinal obstructionOfta (30–79 %)
Intestinal pseudo-obstructionOfta (30–79 %)
Abnormal connection between trachea and esophagusIbland (5–29 %)
Abnormality of the liverIbland (5–29 %)
Absent anusIbland (5–29 %)
Cancer of the pancreasIbland (5–29 %)
Colon cancerIbland (5–29 %)
Duodenal stenosisIbland (5–29 %)
Enlarged colon lacking nerve cellsIbland (5–29 %)
Intermittent diarrheaIbland (5–29 %)
Liver cancerIbland (5–29 %)
Meckel diverticulumIbland (5–29 %)
Peritoneal abscessIbland (5–29 %)
Umbilical herniaIbland (5–29 %)

Abnormality of head or neck

EgenskapHur ofta den förekommer
Abnormally small headAlltid
Coarse facial featuresAlltid
Low frontal hairlineAlltid
Prominent nasal bridgeAlltid
Underdeveloped tissue around nostrilAlltid
Almond shaped eyesOfta (30–79 %)
Short opening between the eyelidsOfta (30–79 %)
Abnormality of the eyelidIbland (5–29 %)
Aplasia/Hypoplasia of the uvulaIbland (5–29 %)
Blockage of the rear opening of the nasal cavityIbland (5–29 %)
Cleft palateIbland (5–29 %)
Eye foldsIbland (5–29 %)
Facial asymmetryIbland (5–29 %)
Frontal bossingIbland (5–29 %)
High palateIbland (5–29 %)
Little lower jawIbland (5–29 %)
Long, narrow headIbland (5–29 %)
Sloping foreheadIbland (5–29 %)
Upward slanting of the opening between the eyelidsIbland (5–29 %)
Bad biteInte registrerat
Full upper lipInte registrerat
Increased size of toothInte registrerat
Long eyelashesInte registrerat
Narrow opening between the eyelidsInte registrerat
Narrow palateInte registrerat
Nasal tip, upturnedInte registrerat

Abnormality of the genitourinary system

EgenskapHur ofta den förekommer
Ovarian carcinomaAlltid
Abnormal fallopian tube morphologyMycket ofta (80–99 %)
Ovarian cancerMycket ofta (80–99 %)
Abnormally shaped kidneyOfta (30–79 %)
Urinary tract abnormalitiesOfta (30–79 %)
Abnormal localisation of kidneysIbland (5–29 %)
Abnormal preputium morphologyIbland (5–29 %)
Abnormality of the testisIbland (5–29 %)
Abnormality of the uterusIbland (5–29 %)
Absent sperm in semenIbland (5–29 %)
Absent testesIbland (5–29 %)
Absent/small kidneyIbland (5–29 %)
Decreased fertility in malesIbland (5–29 %)
Frequent urinary tract infectionsIbland (5–29 %)
Heart shaped uterusIbland (5–29 %)
HydroureterIbland (5–29 %)
HypospadiasIbland (5–29 %)
Prostate cancerIbland (5–29 %)
Renal failureIbland (5–29 %)
Undescended testesIbland (5–29 %)

Abnormality of limbs

EgenskapHur ofta den förekommer
Abnormality of the thumbMycket ofta (80–99 %)
Abnormality of the upper limbMycket ofta (80–99 %)
Aplasia/Hypoplasia of the radiusMycket ofta (80–99 %)
Abnormal feet structureIbland (5–29 %)
Abnormal morphology of ulnaIbland (5–29 %)
Abnormality of the thighboneIbland (5–29 %)
Absent/small fingersIbland (5–29 %)
Clubbed toesIbland (5–29 %)
Curvature of little fingerIbland (5–29 %)
Dropped archesIbland (5–29 %)
Finger syndactylyIbland (5–29 %)
Finger-like thumbIbland (5–29 %)
Fused toesIbland (5–29 %)
Hip dislocationIbland (5–29 %)
Underdeveloped inner large forearm boneIbland (5–29 %)
Attachment of thumb close to wristSällan (1–4%)
Curvature of digitInte registrerat

Abnormality of the eye

EgenskapHur ofta den förekommer
Abnormality of the eyeIbland (5–29 %)
Abnormality of visionIbland (5–29 %)
Abnormally small eyeballIbland (5–29 %)
Absent/small irisIbland (5–29 %)
AstigmatismIbland (5–29 %)
Bulging eyeIbland (5–29 %)
Clouding of the lens of the eyeIbland (5–29 %)
Cross-eyedIbland (5–29 %)
Drooping upper eyelidIbland (5–29 %)
Involuntary, rapid, rhythmic eye movementsIbland (5–29 %)
Visual impairmentIbland (5–29 %)
Wide-set eyesIbland (5–29 %)

Abnormality of the cardiovascular system

EgenskapHur ofta den förekommer
Abnormal cardiac septum morphologyOfta (30–79 %)
Swollen lymph nodesOfta (30–79 %)
Abnormal aortic morphologyIbland (5–29 %)
Abnormal aortic valve morphologyIbland (5–29 %)
Abnormal carotid artery morphologyIbland (5–29 %)
An opening in the wall separating the top two chambers of the heartIbland (5–29 %)
Arteriovenous malformationIbland (5–29 %)
Enlarged and thickened heart muscleIbland (5–29 %)
Enlarged liver and spleenIbland (5–29 %)
Patent ductus arteriosusIbland (5–29 %)
Tetralogy of FallotIbland (5–29 %)

Abnormality of the nervous system

EgenskapHur ofta den förekommer
Global developmental delayAlltid
Intellectual disabilityOfta (30–79 %)
Abnormal shape of nervous systemIbland (5–29 %)
Cranial nerve paralysisIbland (5–29 %)
Increased reflexesIbland (5–29 %)
Split spineIbland (5–29 %)
Too much cerebrospinal fluid in the brainIbland (5–29 %)
VentriculomegalyIbland (5–29 %)
Delayed speech and language developmentInte registrerat

Abnormality of blood and blood-forming tissues

EgenskapHur ofta den förekommer
Abnormality of blood and blood-forming tissuesMycket ofta (80–99 %)
Decreased blood leukocyte numberMycket ofta (80–99 %)
Low number of red blood cells or hemoglobinMycket ofta (80–99 %)
Low platelet countMycket ofta (80–99 %)
Pyridoxine-responsive sideroblastic anemiaMycket ofta (80–99 %)
MyelodysplasiaIbland (5–29 %)

Abnormality of the integument

EgenskapHur ofta den förekommer
Abnormal skin pigmentationMycket ofta (80–99 %)
Irregular hyperpigmentationMycket ofta (80–99 %)
Patchy loss of skin colorMycket ofta (80–99 %)
ItchingOfta (30–79 %)
Multiple birthmarksIbland (5–29 %)
Sparse hairInte registrerat

Growth abnormality

EgenskapHur ofta den förekommer
Short statureAlltid
Weight lossMycket ofta (80–99 %)
Growth delayIbland (5–29 %)
Prenatal growth deficiencyIbland (5–29 %)
Faltering weightInte registrerat

Laboratory abnormality

EgenskapHur ofta den förekommer
Clay colored stoolsMycket ofta (80–99 %)
Diabetes mellitusIbland (5–29 %)
FeverIbland (5–29 %)
High liver enzymesIbland (5–29 %)

Abnormality of the ear

EgenskapHur ofta den förekommer
Abnormally shaped earsIbland (5–29 %)
Hearing abnormalityIbland (5–29 %)
Hearing impairmentIbland (5–29 %)

Abnormality of the musculoskeletal system

EgenskapHur ofta den förekommer
Back painMycket ofta (80–99 %)
ScoliosisOfta (30–79 %)
Low solidness and mass of the bonesIbland (5–29 %)

Abnormal cellular phenotype

EgenskapHur ofta den förekommer
Abnormality of chromosome stabilityMycket ofta (80–99 %)
Chromosome breakageInte registrerat

Abnormal tissue mass

EgenskapHur ofta den förekommer
Abnormal tissue massMycket ofta (80–99 %)
Cancer of skin pigment cellsIbland (5–29 %)

Abnormality of the endocrine system

EgenskapHur ofta den förekommer
Abnormality of the hypothalamus-pituitary axisIbland (5–29 %)
Decreased activity of gonadsIbland (5–29 %)

Constitutional symptom

EgenskapHur ofta den förekommer
Chronic fatigueMycket ofta (80–99 %)
FatigueOfta (30–79 %)

Abnormality of prenatal development or birth

EgenskapHur ofta den förekommer
Low levels of amniotic fluidIbland (5–29 %)

Abnormality of the breast

EgenskapHur ofta den förekommer
Breast cancerOfta (30–79 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

  • Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till BRCA1 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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