Fanconi anemia

Contact us
 
Return to database




Prevalence (%) of clinical parameters based on data from 4 references describing 333 individuals







Add new symptom/sign to this disease

Select symptom from list or write it in the box
Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address


List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Pancytopenia circulatory 100 % 20132664 2011-10-19
Anemia circulatory 100 % 20132664 2012-05-04
Hypersensitivity to DNA cross-linking multi 100 % 17426088 2015-09-21
Osteopenia skeletal 92 % 17426088 2015-09-21
Short stature skeletal 82 % 20132664 2011-10-02
Skin pigmentation changes integumentary 82 % 17426088 2011-10-12
Hyperinsulinemia endocrine 72 % 11335753 2011-10-12
Short stature skeletal 61 % 2917181 2011-10-02
Skin pigmentation changes integumentary 58 % 2917181 2011-10-02
Hearing loss nervous 56 % 17426088 2011-10-12
Microphthalmia nervous 56 % 17426088 2011-10-12
Hypogonadism reproductive 53 % 17426088 2011-10-12
Short stature multi 51 % 17426088 2011-10-12
Thumb abnormalities skeletal 51 % 17426088 2015-09-21
Microcephaly nervous 47 % 17426088 2011-10-12
Skin pigmentation changes integumentary 45 % 20132664 2011-10-02
Microcephaly nervous 44 % 2917181 2011-10-02
Pancytopenia circulatory 39 % 2917181 2011-10-02
Anemia circulatory 39 % 2917181 2012-05-04
Microphthalmia nervous 38 % 2917181 2011-10-02
Myelodysplastic syndrome circulatory 38 % 17426088 2011-10-12
Osteoporosis skeletal 38 % 17426088 2015-09-21
Developmental delay nervous 33 % 17426088 2011-10-12
Developmental delay nervous 30 % 20132664 2011-10-02
Cancer lymphatic 27 % 20132664 2011-10-02
Hypothyroidism endocrine 25 % 11335753 2011-10-12
Hearing loss nervous 22 % 2917181 2011-10-02
Cancer lymphatic 4 % 2917181 2011-10-02



List of references:


Clinical, genetic and cytogenetic study of Fanconi anemia in an Indian population.
Seema Korgaonkar, Kanjaksha Ghosh, Babu Rao Vundinti,



Hematology (Amsterdam, Netherlands) - Feb 2010



Endocrine abnormalities in patients with Fanconi anemia.
Neelam Giri, Dalia L Batista, Blanche P Alter, Constantine A Stratakis,



The Journal of clinical endocrinology and metabolism - Jul 2007



Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry.
M P Wajnrajch, J M Gertner, Z Huma, J Popovic, K Lin, P C Verlander, S D Batish, P F Giampietro, J G Davis, M I New, A D Auerbach,



Pediatrics - Apr 2001



International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity.
A D Auerbach, A Rogatko, T M Schroeder-Kurth,



Blood - Feb 1989