Hereditary Arterial And Articular Multiple Calcification Syndrome

Description

Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints.

Clinical Features

Top most frequent phenotypes and symptoms related to Hereditary Arterial And Articular Multiple Calcification Syndrome

  • Pain
  • Diabetes mellitus
  • Arthralgia
  • Arthritis
  • Paresthesia
  • Type II diabetes mellitus
  • Rheumatoid arthritis
  • Abnormality of the vertebral column
  • Abnormal joint morphology
  • Gangrene

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Hereditary Arterial And Articular Multiple Calcification Syndrome Is also known as calcification of joints and arteries, calja, acdc, arterial calcification due to deficiency of cd73.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hereditary Arterial And Articular Multiple Calcification Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NT5E.

By Fulgent Genetics Fulgent Genetics (United States).

NT5E
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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