Vici Syndrome (VICIS)

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Disease Ontology 12 DOID:0060356 OMIM® 57 242840 KEGG 36 H02133 MeSH 44 C535566 D002386 D007153 D061085 more NCIt 50 C138174 SNOMED-CT 67 719824001

ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 72 C1855772 Orphanet 58 ORPHA1493 MedGen 41 C1855772 SNOMED-CT via HPO 68 123785006 128306009 128490007 128613002 129565002 15890002 16026008 1776003 18064000 18655006 190981001 193570009 194021007 195021004 201284005 204888000 204974003 22006008 224958001 228156007 23006000 234532001 234568006 237836003 246545002 247053007 247578003 253159001 258211005 26399002 271611007 27272007 274521009 276617005 278849000 312999006 313307000 32958008 36440009 38353004 398151007 398152000 399020009 416286003 417338002 421689001 42343007 428875002 43029002 432788009 444896005 44593008 49534003 5102002 51387008 53888004 55827005 563001 57809008 59576002 60700002 609587005 63567004 76976005 79410001 80281008 84114007 84445001 84757009 85898001 87979003 89031001 91138005 91175000 93297002 95515009 95694000 more UMLS 71 C1855772

MedlinePlus Genetics : ⁴³ Vici syndrome is a severe disorder that begins early in life and affects many body systems. It is characterized by abnormalities of the brain, immune system, heart, skin, and eyes. Other organs and tissues are less commonly affected.A characteristic feature of Vici syndrome is a brain abnormality called agenesis of the corpus callosum, in which the tissue that connects the left and right halves of the brain (the corpus callosum) fails to form normally during the early stages of development before birth. Other brain abnormalities can occur in Vici syndrome, including underdevelopment of a region of the brain known as the pons (pontine hypoplasia) and reduced myelin, which is a fatty substance that covers and protects nerve cells. In addition to problems with brain development, breakdown (degeneration) of brain tissue may occur over time, resulting in an unusually small head size (microcephaly).The brain problems contribute to profound developmental delay in individuals with Vici syndrome. Affected infants have weak muscle tone (hypotonia). Few are able to roll, and they may lose this skill when they get older. None are able to sit or walk. In addition, affected children cannot speak.Another characteristic feature of Vici syndrome is impaired immune function (immune deficiency), which leads to recurrent infections that can be life-threatening. Respiratory infections are most common, and gastrointestinal and urinary tract infections are frequent.A potentially life-threatening heart condition called cardiomyopathy is common in children with Vici syndrome. This condition, which worsens over time, makes it difficult for the heart to pump blood efficiently. Some affected children also have heart defects that are present from birth (congenital).Other key features of Vici syndrome include skin and hair that are lighter in color than that of family members and other people with the same ethnic background (hypopigmentation), and clouding of the lenses of the eyes (cataracts) or other eye abnormalities, which may reduce vision.Other, less-common signs and symptoms of Vici syndrome include seizures; hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss); an opening in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) or other unusual facial features; and abnormal function of the thyroid, liver, or kidneys. Many affected infants grow and gain weight more slowly than expected.Due to the severity of the condition, most people with Vici syndrome do not survive beyond age 5.

MalaCards based summary : Vici Syndrome, also known as absent corpus callosum cataract immunodeficiency, is related to cataract and combined immunodeficiency, and has symptoms including seizures An important gene associated with Vici Syndrome is EPG5 (Ectopic P-Granules Autophagy Protein 5 Homolog), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and Shigellosis. The drugs Durvalumab and Sorafenib have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and eye, and related phenotypes are intellectual disability and agenesis of corpus callosum

Disease Ontology : ¹² A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has material basis in mutation in the EPG5 gene on chromosome 18q12.3.

GARD : ²⁰ Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. Swallowing and feeding difficulties early on may result in a failure to thrive. Recurrent infections of the respiratory, gastrointestinal, and urinary tracts are common. Vici syndrome is caused by mutations in the EPG5 gene and is inherited in an autosomal recessive manner. Treatment is mainly supportive.

OMIM® : ⁵⁷ Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy (summary by Finocchi et al., 2012). (242840) (Updated 05-Mar-2021)

KEGG : ³⁶ Vici syndrome is a rare relentlessly progressive congenital multisystem disorder characterised by five principal features of callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency, and oculocutaneous hypopigmentation. Profound developmental delay, progressive failure to thrive, and acquired microcephaly are almost universal, suggesting an evolving (neuro) degenerative component. In most patients there is additional variable multisystem involvement that may affect virtually any organ system, including lungs, thyroid, liver, and kidneys. A skeletal myopathy is consistently associated. Recent studies identified mutations in the gene EPG5 as the cause of Vici syndrome. EPG5 is involved in autophagy, an evolutionarily conserved lysosomal degradation process that is essential for cell homeostasis.

UniProtKB/Swiss-Prot : ⁷³ Vici syndrome: A rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy.

Wikipedia : ⁷⁴ Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent... more...

Clinical features from OMIM®:

242840 (Updated 05-Mar-2021)

Search NIH Clinical Center for Vici Syndrome

Search GEO for disease gene expression data for Vici Syndrome.