ALPHA-2-MACROGLOBULIN DEFICIENCY
General Information (adopted from Orphanet):
Synonyms, Signs: |
A2MD |
Number of Symptoms | 2 |
OrphanetNr: | |
OMIM Id: |
614036
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(OMIM) | Decreased serum alpha-2 macroglobulin levels | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
By the electroimmunoassay of Laurell, Bergqvist and Nilsson (1979) found deficient alpha-2-macroglobulin (103950) in a 37-year-old man, his mother, and one daughter. The deficient persons were apparently heterozygotes. No clinical disadvantage resulted from the deficiency. Poller ... |