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Prevalence (%) of clinical parameters based on data from 1 references describing 11 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 |
| Congenital blistering | integumentary | 100 % | 12668616 | 2014-04-23 | |
| Poikiloderma | integumentary | 100 % | 12668616 | 2014-04-23 | |
| Skin atrophy | integumentary | 100 % | 12668616 | 2014-04-23 | |
| Ichthyosis | integumentary | 100 % | 12668616 | 2014-04-23 | |
| Telangiectasia | integumentary | 82 % | 12668616 | 2014-04-23 | |
| Sun sensitivity | integumentary | 73 % | 12668616 | 2014-04-23 | |
| Gingivitis | integumentary | 73 % | 12668616 | 2014-04-23 | |
| Skin pigmentation changes | integumentary | 55 % | 12668616 | 2014-04-23 | |
| Leucoplakia | digestive | 55 % | 12668616 | 2014-04-23 | |
| Dysphagia | digestive | 55 % | 12668616 | 2014-04-23 | |
| Dental caries | digestive | 45 % | 12668616 | 2014-04-23 | |
| Diarrhea | digestive | 27 % | 12668616 | 2014-04-23 | |
| Anemia | circulatory | 18 % | 12668616 | 2014-04-23 |
List of references:
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
Florence Jobard, Bakar Bouadjar, Frédéric Caux, Smail Hadj-Rabia, Christina Has, Fumi Matsuda, Jean Weissenbach, Mark Lathrop, Jean-François Prud'homme, Judith Fischer,
Human molecular genetics - Apr 2003