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Prevalence (%) of clinical parameters based on data from 5 references describing 219 individuals
Add new symptom/sign to this disease
| 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 |
| Short stature | skeletal | 100 % | 15137905 | 2011-10-19 | |
| Immune deficiency | lymphatic | 100 % | 15137905 | 2011-10-01 | |
| Short stature | skeletal | 100 % | 16763388 | 2011-10-01 | |
| Skin pigmentation changes | integumentary | 100 % | 15137905 | 2011-10-02 | |
| Hypogonadism | reproductive | 100 % | 2721026 | 2011-10-12 | |
| Sun sensitivity | integumentary | 96 % | 5770175 | 2011-10-12 | |
| Telangiectasia | integumentary | 96 % | 5770175 | 2011-10-12 | |
| Cafe-au-lait spots | integumentary | 59 % | 5770175 | 2011-10-13 | |
| Cancer | lymphatic | 42 % | 9062585 | 2011-10-01 | |
| Cafe-au-lait spots | integumentary | 41 % | 5770175 | 2011-10-12 | |
| High-pitched voice | nervous | 26 % | 5770175 | 2011-10-13 | |
| Clinodactyly | skeletal | 23 % | 5770175 | 2015-09-20 | |
| Syndactyly | skeletal | 14 % | 5770175 | 2015-09-20 | |
| Diabetes mellitus type 2 | endocrine | 13 % | 9062585 | 2011-10-01 | |
| Diabetes mellitus type 2 | endocrine | 9 % | 16763388 | 2011-10-01 |
List of references:
Clinical features of Bloom syndrome and function of the causative gene, BLM helicase.
Hideo Kaneko, Naomi Kondo,
Expert review of molecular diagnostics - May 2004
Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome.
Alejandro Diaz, Maria G Vogiatzi, Maureen M Sanz, James German,
Hormone research - 2006
Bloom's syndrome. XIV. The disorder in Japan.
J German, H Takebe,
Clinical genetics - Feb 1989
Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.
J German,
American journal of human genetics - Mar 1969
Bloom's syndrome. XX. The first 100 cancers.
J German,
Cancer genetics and cytogenetics - Jan 1997