Alpha-2-macroglobulin Deficiency; A2md

Clinical Features

Phenotypes and symptoms related to Alpha-2-macroglobulin Deficiency; A2md

  • Abnormal lung morphology
  • Chronic lung disease
  • Chronic obstructive pulmonary disease

Incidence and onset information

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

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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Alpha-2-macroglobulin Deficiency; A2md Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Alpha-2-macroglobulin deficiency (sequence analysis of A2M gene).

By CGC Genetics (Portugal).

A2M
Specificity
100 %
Genes
100 %
Alpha-2-macroglobulin deficiency.

By Centogene AG - the Rare Disease Company (Germany).

A2M
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Alzheimer: Apo-E, PSEN1, PSEN2, A2M and APP genes sequence analysis (select exons).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

APOE, APP, A2M, PSEN1, PSEN2
Specificity
20 %
Genes
100 %
Alzheimer: Apo-E, PSEN1, PSEN2, APP, A2M and MAPT genes sequence analysis (select exons).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

APOE, APP, MAPT, A2M, PSEN1, PSEN2
Specificity
17 %
Genes
100 %
Parkinson-Alzheimer-Dementia NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

SLC6A3, SNCA, SNCB, TAF1, TH, TYROBP, UCHL1, VPS35, FBXO7, AAAS, HTRA2, PINK1, PARK7, TREM2, LRRK2, CSF1R, DCTN1, DNMT1, ATP13A2, EIF4G1 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
A2M.

By Fulgent Genetics Fulgent Genetics (United States).

A2M
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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