Rare Cardiology News
Advertisement
Disease Profile
Infantile cerebellar retinal degeneration
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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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)
Infantile cerebellar-retinal degeneration; ICRD
Categories
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases
Summary
Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (
Symptoms
Developmental delay andintellectual disability - Weakness (
hypotonia ) of the muscles in the chest and abdomen - Slow, involuntary movement of certain muscles in the body (athetosis)
Seizures - Head bobbing
- Retinal degeneration
- Eye abnormalities such as
strabismus andnystagmus - Failure to thrive (slow or inadequate weight gain)
- Hearing and vision loss
- Absence or loss of reflexes
On brain
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
|
---|---|---|
5%-29% of people have these symptoms | ||
Sensorineural hearing impairment | 0000407 | |
Percent of people who have these symptoms is not available through HPO | ||
Areflexia |
Absent tendon reflexes
|
0001284 |
0001251 | ||
Athetosis |
Involuntary writhing movements in fingers, hands, toes, and feet
|
0002305 |
0000007 | ||
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Demyelinating |
0007108 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Nystagmus |
Involuntary, rapid, rhythmic eye movements
|
0000639 |
Optic atrophy | 0000648 | |
Progressive microcephaly |
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ] |
0000253 |
Retinal dystrophy |
Breakdown of light-sensitive cells in back of eye
|
0000556 |
Seizure | 0001250 | |
Severe global developmental delay | 0011344 | |
Strabismus |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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
- The University of Arizona Health Sciences Hereditary Ocular Disease Database offers information on Infantile cerebellar retinal degeneration
In-Depth Information
- 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.
References
- Spiegel R, Pines O, Ta-Shma A, et al. Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2. American Journal of Human Genetics. March 9, 2012; 90(3):518-523. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309186/.
- Infantile Cerebellar-Retinal Degeneration. The University of Arizona Health Sciences Hereditary Ocular Disease Database. https://disorders.eyes.arizona.edu/disorders/infantile-cerebellar-retinal-degeneration. Accessed 4/26/2017.
- Bird TD. Hereditary Ataxia Overview. GeneReviews. November 3, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1138/.
- Kniffen CL. Infantile Cerebellar-Retinal Degeneration; ICRD. Online Mendelian Inheritance in Man (OMIM). 4/2/2015; https://omim.org/entry/614559.
- ACO2 aconitase 2 [ Homo sapiens (human) ]. National Center for Biotechnology Information (NCBI). April 20, 2017; https://www.ncbi.nlm.nih.gov/gene/50.
Rare Cardiology News