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.
Genes related to Hereditary Arterial And Articular Multiple Calcification Syndrome
- NT5E
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.
Incidence and onset information
— Currently we don't have prevalence information about this disease (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.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 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F