Kenmerken

Kenmerken gekoppeld aan PALB2

partner and localizer of BRCA2

De Human Phenotype Ontology koppelt 153 kenmerken aan PALB2, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Abnormal kidney location	Altijd
Abnormal fallopian tube morphology	Heel vaak (80–99%)
Ovarian cancer	Heel vaak (80–99%)
Abnormally shaped kidney	Vaak (30–79%)
Nephroblastoma	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 kidney on one side	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%)
Horseshoe kidney	Soms (5–29%)
Hydroureter	Soms (5–29%)
Hypospadias	Soms (5–29%)
Ovarian carcinoma	Soms (5–29%)
Pelvic kidney	Soms (5–29%)
Prostate cancer	Soms (5–29%)
Renal failure	Soms (5–29%)
Undescended testes	Soms (5–29%)

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Pancreatic adenocarcinoma	Altijd
Abdominal pain	Heel vaak (80–99%)
Anorexia	Heel vaak (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	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%)
Jaundice	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%)
Nausea and vomiting	Soms (5–29%)
Peritoneal abscess	Soms (5–29%)
Umbilical hernia	Soms (5–29%)

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Absent thumb	Altijd
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%)
Short thumb	Vaak (30–79%)
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%)
Underdeveloped outer large forearm bone	Soms (5–29%)

Abnormality of head or neck

Kenmerk	Hoe vaak het voorkomt
Eye folds	Altijd
Short neck	Altijd
Abnormally small head	Heel vaak (80–99%)
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%)
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 cardiovascular system

Kenmerk	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%)
Hole in heart wall separating two lower heart chambers	Soms (5–29%)
Patent ductus arteriosus	Soms (5–29%)
Tetralogy of Fallot	Soms (5–29%)

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Wide-set eyes	Altijd
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%)

Abnormality of the nervous system

Kenmerk	Hoe vaak het voorkomt
Global developmental delay	Vaak (30–79%)
Intellectual disability	Vaak (30–79%)
Medulloblastoma	Vaak (30–79%)
Abnormal shape of nervous system	Soms (5–29%)
Cancer of early nerve cells	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
Aplastic anemia	Altijd
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%)
Acute myeloid leukemia	Soms (5–29%)
Myelodysplasia	Soms (5–29%)

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Birthmark	Altijd
Abnormal skin pigmentation	Heel vaak (80–99%)
Irregular hyperpigmentation	Heel vaak (80–99%)
Patchy loss of skin color	Heel vaak (80–99%)
Multiple birthmarks	Soms (5–29%)
Patchy darkened skin	Soms (5–29%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Growth delay as children	Altijd
Small for gestational age	Altijd
Short stature	Heel vaak (80–99%)
Weight loss	Heel vaak (80–99%)
Growth delay	Soms (5–29%)
Prenatal growth deficiency	Soms (5–29%)

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%)

Abnormality of the musculoskeletal system

Kenmerk	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

Kenmerk	Hoe vaak het voorkomt
Chromosomal breakage induced by crosslinking agents	Altijd
Abnormality of chromosome stability	Heel vaak (80–99%)

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%)

Laboratory abnormality

Kenmerk	Hoe vaak het voorkomt
Diabetes mellitus	Soms (5–29%)
High liver enzymes	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%)

Constitutional symptom

Kenmerk	Hoe vaak het voorkomt
Chronic fatigue	Heel vaak (80–99%)

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 PALB2 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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