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Disease Profile
Vici syndrome
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.
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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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 |
0001274 | ||
Disease of the heart muscle
|
0001638 | ||
Cellular |
0005374 | ||
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 | |
0002353 | |||
Global |
0001263 | ||
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | ||
Muscular |
Low or weak muscle tone
|
0001252 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 | |
Decreased body height
Small stature
[ more ] |
0004322 | ||
Ureteral atresia | 0005999 | ||
30%-79% of people have these symptoms | |||
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 | ||
Involuntary, rapid, rhythmic eye movements
|
0000639 | ||
Optic atrophy | 0000648 | ||
Renal tubular acidosis |
Accumulation of acid in body due to kidney problem
|
0001947 | |
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 | ||
0000007 | |||
Cerebellar vermis hypoplasia | 0001320 | ||
Chronic mucocutaneous candidiasis | 0002728 | ||
Cleft roof of mouth
|
0000175 | ||
Cleft upper lip |
Harelip
|
0000204 | |
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 |
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 | |
Abnormally small skull
Decreased circumference of cranium
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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 moreThese 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
References
Rare Hematology News |