Mito DB

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%)

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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