Rare Hematology News

Disease Profile

Vici syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum; Absent corpus callosum cataract immunodeficiency; Dionisi Vici Sabetta Gambarara syndrome

Categories

Congenital and Genetic Diseases; Eye diseases; Heart Diseases;

Summary

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.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of retinal pigmentation
0007703
Agenesis of corpus callosum
0001274
Cardiomyopathy
Disease of the heart muscle
0001638
Cellular immunodeficiency
0005374
Death in infancy
Infantile death
Lethal in infancy

[ more ]

0001522
EEG abnormality
0002353
Global developmental delay
0001263
Hypopigmentation of the skin
Patchy lightened skin
0001010
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Muscular hypotonia
Low or weak muscle tone
0001252
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Short stature
Decreased body height
Small stature

[ more ]

0004322
Ureteral atresia
0005999
30%-79% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Depressed nasal tip
Caved in nasal tip
Depressed tip of nose
Flat nasal tip
Flat tip of nose
Flattened nasal tip
Nasal tip, depressed

[ more ]

0000437
Gray matter heterotopia
0002282
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypoplasia of the pons
0012110
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic atrophy
0000648
Renal tubular acidosis
Accumulation of acid in body due to kidney problem
0001947
Seizure
0001250
5%-29% of people have these symptoms
Abnormal macular morphology
0001103
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Decreased circulating IgG2 level
0008348
Feeding difficulties in infancy
0008872
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypotelorism
Abnormally close eyes
Closely spaced eyes

[ more ]

0000601
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Sensorineural hearing impairment
0000407
Sleep disturbance
Difficulty sleeping
Trouble sleeping

[ more ]

0002360
Percent of people who have these symptoms is not available through HPO
Abnormal posturing
0002533
Abnormality of the thymus
0000777
Acidosis
0001941
Albinism
0001022
Autosomal recessive inheritance
0000007
Cerebellar vermis hypoplasia
0001320
Chronic mucocutaneous candidiasis
0002728
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Congenital onset
Symptoms present at birth
0003577
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Cutaneous anergy
0002965
Decreased circulating IgG level
0004315
Decreased proportion of CD4-positive helper T cells
0005407
Decreased T cell activation
0005419
Developmental cataract
Clouding of the lens of the eye at birth
0000519
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Hypopigmentation of hair
Loss of hair color
0005599
Hypopigmentation of the fundus
0007894
Immunodeficiency
Decreased immune function
0002721
Left ventricular hypertrophy
0001712
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Microcephaly
Abnormally small skull
Decreased circumference of cranium

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Social Networking Websites

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Vici syndrome. Click on the link to view a sample search on this topic.

References

  1. Heinz Jungbluth. Vici Syndrome. Orphanet. May, 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1493. Accessed 5/18/2015.

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