Rare Hematology News

Disease Profile

Chanarin-Dorfman 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

-

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

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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)

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 syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. This condition is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern.[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
Congenital nonbullous ichthyosiform erythroderma
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
Ataxia
0001251
Cardiomyopathy
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 developmental delay
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 protein
0002922
Increased intramyocellular lipid droplets
0012240
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Ptosis
Drooping upper eyelid
0000508
Sensorineural hearing impairment
0000407
Short stature
Decreased body height
Small stature

[ more ]

0004322
Shoulder girdle muscle weakness
Weak shoulder muscles
0003547
Small earlobe
Small earlobes
0000385
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Subcapsular cataract
0000523
5%-29% of people have these symptoms
Central nervous system degeneration
0007009
Micronodular cirrhosis
0001413
Percent of people who have these symptoms is not available through HPO
Abnormality of blood and blood-forming tissues
0001871
Autosomal recessive inheritance
0000007
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip

[ more ]

0000232
Intellectual disability
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

  1. Chanarin-Dorfman syndrome. Genetics Home Reference. November 2008; https://ghr.nlm.nih.gov/condition/chanarin-dorfman-syndrome. Accessed 4/22/2011.