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Disease Profile
Chanarin-Dorfman 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.
<1 / 1 000 000
Age of onset
-
ICD-10
E75.5
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)
Triglyceride storage disease with impaired long-chain fatty acid oxidation; NLSDI; Neutral lipid storage disease with ichthyotic;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
Chanarin-Dorfman
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 | ||
| 0007479 | ||
| Progressive proximal muscle weakness | 0009073 | |
| 30%-79% of people have these symptoms | ||
| Abnormal circulating creatine kinase concentration |
Abnormal levels of creatine kinase in blood
|
0040081 |
| Abnormal granulocyte morphology | 0001911 | |
| Alopecia |
Hair loss
|
0001596 |
| Areflexia |
Absent tendon reflexes
|
0001284 |
| 0001251 | ||
|
Disease of the heart muscle
|
0001638 | |
| Difficulty walking |
Difficulty in walking
|
0002355 |
| Eclabion |
Outward turned lips
|
0012472 |
| Ectropion |
Eyelid turned out
|
0000656 |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| EMG: myopathic abnormalities | 0003458 | |
| Global |
0001263 | |
| Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
| Increased CSF |
0002922 | |
| Increased intramyocellular lipid droplets | 0012240 | |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
|
Drooping upper eyelid
|
0000508 | |
| Sensorineural hearing impairment | 0000407 | |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Shoulder girdle muscle weakness |
Weak shoulder muscles
|
0003547 |
| Small earlobe |
Small earlobes
|
0000385 |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Subcapsular |
0000523 | |
| 5%-29% of people have these symptoms | ||
| 0007009 | ||
| Micronodular cirrhosis | 0001413 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of blood and blood-forming |
0001871 | |
| 0000007 | ||
| Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Myopathy |
Muscle tissue disease
|
0003198 |
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
- Genetics Home Reference (GHR) contains information on Chanarin-Dorfman syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 Chanarin-Dorfman syndrome. Click on the link to view a sample search on this topic.
References
- Chanarin-Dorfman syndrome. Genetics Home Reference. November 2008; https://ghr.nlm.nih.gov/condition/chanarin-dorfman-syndrome. Accessed 4/22/2011.