Kindler syndrome

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Prevalence (%) of clinical parameters based on data from 1 references describing 11 individuals



100
Congenital blistering
100
Ichthyosis
100
Poikiloderma
100
Skin atrophy
82
Telangiectasia
73
Gingivitis
73
Sun sensitivity
55
Dysphagia
55
Leucoplakia
55
Skin pigmentation changes
45
Dental caries
27
Diarrhea
18
Anemia




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 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
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