Trăsături

Trăsături asociate cu FANCE

FA complementation group E

Human Phenotype Ontology asociază 128 trăsături cu FANCE, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormally shaped kidney	Des (30–79%)
Urinary tract abnormalities	Des (30–79%)
Abnormal localisation of kidneys	Uneori (5–29%)
Abnormal preputium morphology	Uneori (5–29%)
Abnormality of the testis	Uneori (5–29%)
Abnormality of the uterus	Uneori (5–29%)
Absent sperm in semen	Uneori (5–29%)
Absent testes	Uneori (5–29%)
Absent/small kidney	Uneori (5–29%)
Decreased fertility in males	Uneori (5–29%)
Frequent urinary tract infections	Uneori (5–29%)
Heart shaped uterus	Uneori (5–29%)
Hydroureter	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Renal failure	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Abnormal kidney location	Neînregistrat
Absent kidney	Neînregistrat
Duplicated collecting system	Neînregistrat
Horseshoe kidney	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the thumb	Foarte des (80–99%)
Abnormality of the upper limb	Foarte des (80–99%)
Aplasia/Hypoplasia of the radius	Foarte des (80–99%)
Abnormal feet structure	Uneori (5–29%)
Abnormal morphology of ulna	Uneori (5–29%)
Abnormality of the thighbone	Uneori (5–29%)
Absent/small fingers	Uneori (5–29%)
Clubbed toes	Uneori (5–29%)
Curvature of little finger	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
Finger-like thumb	Uneori (5–29%)
Fused toes	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Underdeveloped inner large forearm bone	Uneori (5–29%)
Absent thumb	Neînregistrat
Complete duplication of thumb bones	Neînregistrat
Missing outer large bone of forearm	Neînregistrat
Short thumb	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Des (30–79%)
Almond shaped eyes	Des (30–79%)
Short opening between the eyelids	Des (30–79%)
Abnormality of the eyelid	Uneori (5–29%)
Aplasia/Hypoplasia of the uvula	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Facial asymmetry	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
High palate	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Sloping forehead	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of the eye	Uneori (5–29%)
Abnormality of vision	Uneori (5–29%)
Abnormally small eyeball	Uneori (5–29%)
Absent/small iris	Uneori (5–29%)
Astigmatism	Uneori (5–29%)
Bulging eye	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormality of blood and blood-forming tissues	Foarte des (80–99%)
Decreased blood leukocyte number	Foarte des (80–99%)
Low number of red blood cells or hemoglobin	Foarte des (80–99%)
Low platelet count	Foarte des (80–99%)
Pyridoxine-responsive sideroblastic anemia	Foarte des (80–99%)
Myelodysplasia	Uneori (5–29%)
Blood cancer	Neînregistrat
Bruising susceptibility	Neînregistrat
Low blood cell count	Neînregistrat
Low blood neutrophil count	Neînregistrat
Reticulocytopenia	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiac septum morphology	Des (30–79%)
Abnormal aortic morphology	Uneori (5–29%)
Abnormal aortic valve morphology	Uneori (5–29%)
Abnormal carotid artery morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Arteriovenous malformation	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)
Abnormality of the heart	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Intellectual disability	Des (30–79%)
Abnormal shape of nervous system	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Increased reflexes	Uneori (5–29%)
Split spine	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Abnormal connection between trachea and esophagus	Uneori (5–29%)
Abnormality of the liver	Uneori (5–29%)
Absent anus	Uneori (5–29%)
Duodenal stenosis	Uneori (5–29%)
Enlarged colon lacking nerve cells	Uneori (5–29%)
Meckel diverticulum	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal skin pigmentation	Foarte des (80–99%)
Irregular hyperpigmentation	Foarte des (80–99%)
Patchy loss of skin color	Foarte des (80–99%)
Multiple birthmarks	Uneori (5–29%)
Anemic pallor	Neînregistrat
Birthmark	Neînregistrat
Patchy darkened skin	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Growth delay	Uneori (5–29%)
Prenatal growth deficiency	Uneori (5–29%)
Weight loss	Uneori (5–29%)
Small for gestational age	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Abnormality of chromosome stability	Foarte des (80–99%)
Chromosomal breakage induced by crosslinking agents	Neînregistrat
Deficient excision of UV-induced pyrimidine dimers in DNA	Neînregistrat
Prolonged G2 phase of cell cycle	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormally shaped ears	Uneori (5–29%)
Hearing abnormality	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Abnormality of the hypothalamus-pituitary axis	Uneori (5–29%)
Decreased activity of gonads	Uneori (5–29%)
Hypergonadotropic hypogonadism	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Scoliosis	Des (30–79%)
Low solidness and mass of the bones	Uneori (5–29%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Des (30–79%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Low levels of amniotic fluid	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu FANCE și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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