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Kenmerken
Kenmerken gekoppeld aan FANCF
FA complementation group F
De Human Phenotype Ontology koppelt 130 kenmerken aan FANCF, 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 |
|---|---|
| Abnormally shaped kidney | Vaak (30–79%) |
| Microphallus | Vaak (30–79%) |
| Pelvic kidney | Vaak (30–79%) |
| Small kidneys | Vaak (30–79%) |
| Undescended testes | Vaak (30–79%) |
| Urinary tract abnormalities | Vaak (30–79%) |
| Vesicoureteral reflux | 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%) |
| Renal failure | 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%) |
| Absent thumb | Vaak (30–79%) |
| Short thumb | Vaak (30–79%) |
| Underdeveloped outer large forearm bone | Vaak (30–79%) |
| Webbed 2nd-3rd fingers | 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%) |
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 nervous system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Delayed speech and language development | Vaak (30–79%) |
| Global developmental delay | Vaak (30–79%) |
| Intellectual disability | Vaak (30–79%) |
| Specific learning 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 the cardiovascular system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormal cardiac septum morphology | Vaak (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Vaak (30–79%) |
| Patent ductus arteriosus | Vaak (30–79%) |
| Abnormal aortic morphology | Soms (5–29%) |
| Abnormal aortic valve morphology | Soms (5–29%) |
| Abnormal carotid artery morphology | Soms (5–29%) |
| Arteriovenous malformation | Soms (5–29%) |
| Enlarged and thickened heart muscle | Soms (5–29%) |
| Tetralogy of Fallot | Soms (5–29%) |
Abnormality of the digestive system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Absence or narrowing of first part of small bowel | Vaak (30–79%) |
| Abnormal connection between trachea and esophagus | Soms (5–29%) |
| Abnormality of the liver | Soms (5–29%) |
| Absent anus | 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 blood and blood-forming tissues
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Bone marrow failure | Altijd |
| Decreased blood leukocyte number | Altijd |
| Low number of red blood cells or hemoglobin | Altijd |
| Low platelet count | Altijd |
| Abnormality of blood and blood-forming tissues | Heel vaak (80–99%) |
| Pyridoxine-responsive sideroblastic anemia | Heel vaak (80–99%) |
| Myelodysplasia | Soms (5–29%) |
Abnormality of the integument
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Birthmark | Altijd |
| Patchy darkened skin | Altijd |
| Abnormal skin pigmentation | Heel vaak (80–99%) |
| Irregular hyperpigmentation | Heel vaak (80–99%) |
| Patchy loss of skin color | Heel vaak (80–99%) |
| Spinal dimple | Vaak (30–79%) |
| Multiple birthmarks | Soms (5–29%) |
Abnormality of the ear
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Conductive deafness | Vaak (30–79%) |
| Small ears | Vaak (30–79%) |
| Abnormally shaped ears | Soms (5–29%) |
| Hearing abnormality | Soms (5–29%) |
| Hearing impairment | Soms (5–29%) |
Growth abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Faltering weight | Altijd |
| Short stature | Heel vaak (80–99%) |
| Prenatal growth deficiency | Vaak (30–79%) |
| Growth delay | Soms (5–29%) |
| Weight loss | Soms (5–29%) |
Abnormality of prenatal development or birth
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| High levels of amniotic fluid | Vaak (30–79%) |
| Only one artery in umbilical cord instead of two | Vaak (30–79%) |
| Placental abruption | Vaak (30–79%) |
| Low levels of amniotic fluid | Soms (5–29%) |
Abnormality of the endocrine system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Decreased response to growth hormone stimulation test | Vaak (30–79%) |
| Abnormality of the hypothalamus-pituitary axis | Soms (5–29%) |
| Decreased activity of gonads | 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%) |
Abnormality of the musculoskeletal system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Scoliosis | Vaak (30–79%) |
| Low solidness and mass of the bones | Soms (5–29%) |
Abnormal tissue mass
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormal tissue mass | Vaak (30–79%) |
Abnormality of the immune system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Pneumonia | Altijd |
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 FANCF gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.
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