VICIS
MCID: VCS001
MIFTS: 57
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Vici Syndrome (VICIS)
Categories:
Blood diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Vici Syndrome:
Characteristics:Orphanet epidemiological data:58
vici syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile,late childhood,stillbirth; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth early death often occurs from cardiac failure or infection immunologic defects are variable HPO:31
vici syndrome:
Onset and clinical course death in infancy congenital onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Skin diseases Blood diseases
ICD10:
33
Orphanet: 58
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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... |
Human phenotypes related to Vici Syndrome:58 31 (show top 50) (show all 72)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:242840 (Updated 05-Mar-2021)UMLS symptoms related to Vici Syndrome:seizures |
Drugs for Vici Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Cochrane evidence based reviews: absent corpus callosum cataract immunodeficiency |
MalaCards organs/tissues related to Vici Syndrome:40
Brain,
Heart,
Eye,
Pons,
Thymus,
Liver,
T Cells
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Articles related to Vici Syndrome:(show top 50) (show all 54)
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ClinVar genetic disease variations for Vici Syndrome:6 (show top 50) (show all 365)
UniProtKB/Swiss-Prot genetic disease variations for Vici Syndrome:73
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Pathways related to Vici Syndrome according to GeneCards Suite gene sharing:
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Cellular components related to Vici Syndrome according to GeneCards Suite gene sharing:(show all 14)
Biological processes related to Vici Syndrome according to GeneCards Suite gene sharing:(show all 21)
Molecular functions related to Vici Syndrome according to GeneCards Suite gene sharing:
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