Rare Rheumatology News

Disease Profile

ACDC

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

Adult

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ICD-10

-

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)

Arterial calcification due to CD73 deficiency; Arterial calcification due to deficiency of CD73; Calcification of joints and arteries; CALJA;

Summary

Arterial calcification due to deficiency of CD73, or ACDC, is a rare, adult-onset vascular disorder. People with ACDC have calcium build-up in the large vessels (mainly below the waist) and in the joints of the hands and feet. Signs and symptoms may include progressive pain and cramping in the calves, thighs, buttocks, feet, and/or hands.[1][2] The age of onset has been reported as early as the second decade of life.[2] ACDC is caused by mutations in the NT5E gene and is inherited in an autosomal recessive manner.[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
Percent of people who have these symptoms is not available through HPO
Abnormal joint morphology
Abnormal shape of joints
Abnormality of the joints
Anomaly of the joints

[ more ]

0001367
Abnormality of the vertebral column
Abnormal spine
Abnormal vertebral column
Abnormality of the spine

[ more ]

0000925
Arterial calcification
0003207
Autosomal recessive inheritance
0000007
Ectopic ossification
0011986
Periarticular calcification
0025477

Diagnosis

We are unaware of published diagnostic criteria for ACDC. However, in the past, a diagnosis of ACDC has been made by a combination of a thorough medical evaluation and genetic test results. Medical evaluations of people diagnosed with ACDC have ruled out other causes of leg and joint discomfort, such as rheumatoid arthritis or other joint-related problems. MRIs and x-rays of the vasculature of those affected have indicated calcium deposits in artery walls. Genetic testing in an affected person would identify mutations in the NT5E gene, which are the underlying genetic cause of ACDC.[3]

Treatment

Due to the rarity of this condition, there is very limited information available in the medical literature. We are not aware of specific treatment recommendations for ACDC, or of any therapies currently known to be effective. One affected individual reportedly was treated with surgeries to reroute blood flow through alternate vessels and had a joint amputation in the foot.[3] Several possible future therapies have been proposed.[1] Research is currently under way to investigate possible treatment options.

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Click here to find trials relating to ACDC. This site may be checked often for new studies, as it is updated regularly.

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.

Organizations Supporting this Disease

    Organizations Providing General Support

      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.

      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. 
      • PubMed is a searchable database of medical literature and lists journal articles that discuss ACDC. Click on the link to view a sample search on this topic.

        References

        1. St Hilaire C, et. al. NT5E mutations and arterial calcifications. N Engl J Med. February 3, 2011; 364(5):432-442.
        2. NT5E. Genetics Home Reference. October 9, 2014; https://ghr.nlm.nih.gov/gene/NT5E. Accessed 10/15/2014.
        3. NIH researchers identify genetic cause of new vascular disease. National Institutes of Health, NIH News. February, 2011; https://rarediseases.info.nih.gov/files/NIH%20ArterialCalcNEJM-final.pdf. Accessed 10/16/2014.

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