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Prevalence (%) of clinical parameters based on data from 4 references describing 333 individuals
Add new symptom/sign to this disease
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
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