Cockayne syndrome

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Prevalence (%) of clinical parameters based on data from 5 references describing 230 individuals







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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
Short stature skeletal 100 % 1308368 2011-10-19
Sun sensitivity integumentary 100 % 1308368 2011-09-30
Contracture skeletal 100 % 21480477 2011-09-30
Short stature skeletal 100 % 21480477 2011-09-30
Ataxia nervous 100 % 21480477 2011-09-30
Cerebral atrophy nervous 100 % 20522568 2011-10-26
Sun sensitivity integumentary 100 % 21480477 2011-09-30
Cerebellar atrophy nervous 100 % 20522568 2011-10-26
Lactate accumulation nervous 100 % 20522568 2011-10-27
Weight loss multi 100 % 1308368 2012-11-05
White matter lesions nervous 100 % 20522568 2019-02-07
Hearing loss nervous 96 % 21480477 2011-09-30
Enamel hypoplasia skeletal 94 % 23311583 2015-09-21
Dental caries digestive 86 % 1308368 2011-09-30
Neuropathy nervous 85 % 1308368 2012-07-26
Basal ganglia pathology nervous 82 % 21480477 2011-10-14
Tremor nervous 80 % 21480477 2011-09-30
Decreased recovery of RNA synthesis after DNA damage integumentary 78 % 27004399 2016-08-18
Leukodystrophy nervous 76 % 21480477 2011-10-12
Xerophthalmus integumentary 73 % 21480477 2011-09-30
Kyphosis skeletal 66 % 21480477 2011-09-30
Hearing loss nervous 60 % 1308368 2011-09-27
Dental caries digestive 58 % 21480477 2011-09-30
Retinitis pigmentosa nervous 55 % 1308368 2011-09-25
Vomiting digestive 53 % 21480477 2011-09-30
Cataract nervous 53 % 21480477 2011-09-30
Seizures nervous 46 % 21480477 2011-09-30
Nystagmus nervous 44 % 21480477 2011-09-30
Hypertension circulatory 44 % 21480477 2011-09-30
Pruritus integumentary 42 % 21480477 2011-09-30
Developmental delay nervous 38 % 1308368 2011-09-30
Cataract nervous 36 % 1308368 2011-09-30
Ataxia nervous 35 % 1308368 2011-09-25
Optic atrophy nervous 34 % 1308368 2011-09-26
Tremor nervous 32 % 1308368 2011-09-27
Nystagmus nervous 21 % 1308368 2011-09-30
Hyperactive reflexes nervous 21 % 1308368 2012-07-26
Areflexia nervous 17 % 1308368 2012-07-26
Hypodontia skeletal 12 % 23311583 2015-09-21
Seizures nervous 8 % 1308368 2011-09-30



List of references:


Cockayne syndrome: review of 140 cases.
M A Nance, S A Berry,



American journal of medical genetics - Jan 1992



A comprehensive description of the severity groups in Cockayne syndrome.
Valerie Natale,



American journal of medical genetics. Part A - May 2011



Neuroimaging in Cockayne syndrome.
M Koob, V Laugel, M Durand, H Fothergill, C Dalloz, F Sauvanaud, H Dollfus, I J Namer, J-L Dietemann,



AJNR. American journal of neuroradiology - Oct 2010



A possible cranio-oro-facial phenotype in Cockayne syndrome.
Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis, Emmanuelle Desforges, Mériam Koob, Ariane Zaloszyc, Hélène Dollfus, Vincent Laugel,



Orphanet journal of rare diseases - Jan 2013



Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal, Blanca Gener, Sophie Julia, Isabel Llano-Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean-Louis Mandel, Vincent Laugel,



Orphanet journal of rare diseases - Mar 2016