Egenskaper

Egenskaper kopplade till FANCF

FA complementation group F

Human Phenotype Ontology kopplar 130 egenskaper till FANCF, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

FANCF

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Abnormally shaped kidney	Ofta (30–79 %)
Microphallus	Ofta (30–79 %)
Pelvic kidney	Ofta (30–79 %)
Small kidneys	Ofta (30–79 %)
Undescended testes	Ofta (30–79 %)
Urinary tract abnormalities	Ofta (30–79 %)
Vesicoureteral reflux	Ofta (30–79 %)
Abnormal localisation of kidneys	Ibland (5–29 %)
Abnormal preputium morphology	Ibland (5–29 %)
Abnormality of the testis	Ibland (5–29 %)
Abnormality of the uterus	Ibland (5–29 %)
Absent sperm in semen	Ibland (5–29 %)
Absent testes	Ibland (5–29 %)
Absent/small kidney	Ibland (5–29 %)
Decreased fertility in males	Ibland (5–29 %)
Frequent urinary tract infections	Ibland (5–29 %)
Heart shaped uterus	Ibland (5–29 %)
Hydroureter	Ibland (5–29 %)
Hypospadias	Ibland (5–29 %)
Renal failure	Ibland (5–29 %)

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Abnormality of the thumb	Mycket ofta (80–99 %)
Abnormality of the upper limb	Mycket ofta (80–99 %)
Aplasia/Hypoplasia of the radius	Mycket ofta (80–99 %)
Absent thumb	Ofta (30–79 %)
Short thumb	Ofta (30–79 %)
Underdeveloped outer large forearm bone	Ofta (30–79 %)
Webbed 2nd-3rd fingers	Ofta (30–79 %)
Abnormal feet structure	Ibland (5–29 %)
Abnormal morphology of ulna	Ibland (5–29 %)
Abnormality of the thighbone	Ibland (5–29 %)
Absent/small fingers	Ibland (5–29 %)
Clubbed toes	Ibland (5–29 %)
Curvature of little finger	Ibland (5–29 %)
Dropped arches	Ibland (5–29 %)
Finger syndactyly	Ibland (5–29 %)
Finger-like thumb	Ibland (5–29 %)
Fused toes	Ibland (5–29 %)
Hip dislocation	Ibland (5–29 %)
Underdeveloped inner large forearm bone	Ibland (5–29 %)

Abnormality of head or neck

Egenskap	Hur ofta den förekommer
Abnormally small head	Ofta (30–79 %)
Almond shaped eyes	Ofta (30–79 %)
Short opening between the eyelids	Ofta (30–79 %)
Abnormality of the eyelid	Ibland (5–29 %)
Aplasia/Hypoplasia of the uvula	Ibland (5–29 %)
Blockage of the rear opening of the nasal cavity	Ibland (5–29 %)
Cleft palate	Ibland (5–29 %)
Eye folds	Ibland (5–29 %)
Facial asymmetry	Ibland (5–29 %)
Frontal bossing	Ibland (5–29 %)
High palate	Ibland (5–29 %)
Little lower jaw	Ibland (5–29 %)
Long, narrow head	Ibland (5–29 %)
Sloping forehead	Ibland (5–29 %)
Upward slanting of the opening between the eyelids	Ibland (5–29 %)

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Abnormally small eyeball	Ofta (30–79 %)
Abnormality of the eye	Ibland (5–29 %)
Abnormality of vision	Ibland (5–29 %)
Absent/small iris	Ibland (5–29 %)
Astigmatism	Ibland (5–29 %)
Bulging eye	Ibland (5–29 %)
Clouding of the lens of the eye	Ibland (5–29 %)
Cross-eyed	Ibland (5–29 %)
Drooping upper eyelid	Ibland (5–29 %)
Involuntary, rapid, rhythmic eye movements	Ibland (5–29 %)
Visual impairment	Ibland (5–29 %)
Wide-set eyes	Ibland (5–29 %)

Abnormality of the nervous system

Egenskap	Hur ofta den förekommer
Delayed speech and language development	Ofta (30–79 %)
Global developmental delay	Ofta (30–79 %)
Intellectual disability	Ofta (30–79 %)
Specific learning disability	Ofta (30–79 %)
Abnormal shape of nervous system	Ibland (5–29 %)
Cranial nerve paralysis	Ibland (5–29 %)
Increased reflexes	Ibland (5–29 %)
Split spine	Ibland (5–29 %)
Too much cerebrospinal fluid in the brain	Ibland (5–29 %)
Ventriculomegaly	Ibland (5–29 %)

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Abnormal cardiac septum morphology	Ofta (30–79 %)
An opening in the wall separating the top two chambers of the heart	Ofta (30–79 %)
Patent ductus arteriosus	Ofta (30–79 %)
Abnormal aortic morphology	Ibland (5–29 %)
Abnormal aortic valve morphology	Ibland (5–29 %)
Abnormal carotid artery morphology	Ibland (5–29 %)
Arteriovenous malformation	Ibland (5–29 %)
Enlarged and thickened heart muscle	Ibland (5–29 %)
Tetralogy of Fallot	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Absence or narrowing of first part of small bowel	Ofta (30–79 %)
Abnormal connection between trachea and esophagus	Ibland (5–29 %)
Abnormality of the liver	Ibland (5–29 %)
Absent anus	Ibland (5–29 %)
Duodenal stenosis	Ibland (5–29 %)
Enlarged colon lacking nerve cells	Ibland (5–29 %)
Meckel diverticulum	Ibland (5–29 %)
Umbilical hernia	Ibland (5–29 %)

Abnormality of blood and blood-forming tissues

Egenskap	Hur ofta den förekommer
Bone marrow failure	Alltid
Decreased blood leukocyte number	Alltid
Low number of red blood cells or hemoglobin	Alltid
Low platelet count	Alltid
Abnormality of blood and blood-forming tissues	Mycket ofta (80–99 %)
Pyridoxine-responsive sideroblastic anemia	Mycket ofta (80–99 %)
Myelodysplasia	Ibland (5–29 %)

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Birthmark	Alltid
Patchy darkened skin	Alltid
Abnormal skin pigmentation	Mycket ofta (80–99 %)
Irregular hyperpigmentation	Mycket ofta (80–99 %)
Patchy loss of skin color	Mycket ofta (80–99 %)
Spinal dimple	Ofta (30–79 %)
Multiple birthmarks	Ibland (5–29 %)

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Conductive deafness	Ofta (30–79 %)
Small ears	Ofta (30–79 %)
Abnormally shaped ears	Ibland (5–29 %)
Hearing abnormality	Ibland (5–29 %)
Hearing impairment	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Faltering weight	Alltid
Short stature	Mycket ofta (80–99 %)
Prenatal growth deficiency	Ofta (30–79 %)
Growth delay	Ibland (5–29 %)
Weight loss	Ibland (5–29 %)

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
High levels of amniotic fluid	Ofta (30–79 %)
Only one artery in umbilical cord instead of two	Ofta (30–79 %)
Placental abruption	Ofta (30–79 %)
Low levels of amniotic fluid	Ibland (5–29 %)

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Decreased response to growth hormone stimulation test	Ofta (30–79 %)
Abnormality of the hypothalamus-pituitary axis	Ibland (5–29 %)
Decreased activity of gonads	Ibland (5–29 %)

Abnormal cellular phenotype

Egenskap	Hur ofta den förekommer
Chromosomal breakage induced by crosslinking agents	Alltid
Abnormality of chromosome stability	Mycket ofta (80–99 %)

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Scoliosis	Ofta (30–79 %)
Low solidness and mass of the bones	Ibland (5–29 %)

Abnormal tissue mass

Egenskap	Hur ofta den förekommer
Abnormal tissue mass	Ofta (30–79 %)

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Pneumonia	Alltid

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 FANCF och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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