Vici syndrome

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Prevalence (%) of clinical parameters based on data from 2 references describing 21 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
Corpus callosum agenesis nervous 100 % 23222957 2014-05-09
Hypopigmentation integumentary 100 % 23222957 2014-05-09
Immune deficiency lymphatic 100 % 23222957 2014-05-09
Myopathy skeletal 100 % 23222957 2014-05-09
Developmental delay nervous 100 % 10405446 2014-05-09
Hypotonia nervous 100 % 10405446 2014-05-09
Corpus callosum agenesis nervous 100 % 10405446 2014-05-09
Hypopigmentation integumentary 100 % 10405446 2014-05-09
Recurrent infections lymphatic 100 % 10405446 2014-05-09
Failure to thrive multi 100 % 10405446 2014-05-09
Cataract nervous 93 % 23222957 2014-05-09
Cardiomyopathy circulatory 83 % 10405446 2014-05-09
Cardiomyopathy circulatory 80 % 23222957 2014-05-09
Retinal hypopigmentation nervous 80 % 10405446 2014-05-09
Cerebellar atrophy nervous 71 % 23222957 2014-05-09
Cataract nervous 67 % 10405446 2014-05-09
Hearing loss nervous 60 % 23222957 2014-05-09
Vermis hypoplasia nervous 60 % 10405446 2014-05-09
Seizures nervous 50 % 23222957 2014-05-09
Seizures nervous 50 % 10405446 2014-05-09
Cortical dysgenesis nervous 40 % 10405446 2014-05-09
Microcephaly nervous 33 % 23222957 2014-05-09
Cleft lip or palate skeletal 33 % 10405446 2014-05-09
Cleft lip or palate skeletal 20 % 23222957 2014-05-09
Nystagmus nervous 20 % 23222957 2014-05-09
Thymus hypoplasia lymphatic 20 % 23222957 2014-05-09
Hepatopathy digestive 13 % 23222957 2014-05-09
Persistent foramen ovale circulatory 13 % 23222957 2014-05-09
Syndactyly skeletal 13 % 23222957 2014-05-09



List of references:


Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Thomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, Birgit Brandmeier, Frances Smith, Zoe Urry, Michael A Simpson, Shu Yau, Enrico Bertini, Verity McClelland, Mohammed Al-Owain, Stefan Koelker, Christian Koerner, Georg F Hoffmann, Frits A Wijburg, Amber E ten Hoedt, R Curtis Rogers, David Manchester, Rie Miyata, Masaharu Hayashi, Elizabeth Said, Doriette Soler, Peter M Kroisel, Christian Windpassinger, Francis M Filloux, Salwa Al-Kaabi, Jozef Hertecant, Miguel Del Campo, Stefan Buk, Istvan Bodi, Hans-Hilmar Goebel, Caroline A Sewry, Stephen Abbs, Shehla Mohammed, Dragana Josifova, Mathias Gautel, Heinz Jungbluth,



Nature genetics - Jan 2013



Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.
M del Campo, B D Hall, A Aeby, M C Nassogne, A Verloes, C Roche, C Gonzalez, H Sanchez, A Garcia-Alix, F Cabanas, R M Escudero, R Hernandez, J Quero,



American journal of medical genetics - Aug 1999