Immunodeficiency 43; Imd43
Clinical Features
Top most frequent phenotypes and symptoms related to Immunodeficiency 43; Imd43
- Immunodeficiency
- Recurrent respiratory infections
- Diabetes mellitus
- Proteinuria
- Sepsis
- Inflammatory abnormality of the skin
- Subcutaneous nodule
- Bronchiectasis
- Hypoalbuminemia
- Hypoplasia of the ulna
And another 3 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
Immunodeficiency 43; Imd43 Is also known as beta-2-microglobulin deficiency, b2m deficiency, hypoproteinemia, hypercatabolic.
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.Immunodeficiency 43; Imd43 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Hyperferritinemia Panel.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).
SEC23B, SLC40A1, TF, TFR2, HAMP, CDAN1, CP, STEAP3, SLC25A38, ALAS2, FTH1, FTL, HFE, HJV, B2M
Specificity
7 %
Genes
100 % |
Hereditary amyloidosis (NGS panel of 19 genes).
By CGC Genetics (Portugal).
TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET
Specificity
6 %
Genes
100 % |
Hereditary amyloidosis (NGS panel of 19 genes).
By CGC Genetics (Portugal).
TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET
Specificity
6 %
Genes
100 % |
Hereditary Amyloidosis, gene sequencing panel.
By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States).
TTR, FGA, GSN, LYZ, B2M
Specificity
20 %
Genes
100 % |
Custom gene seqeuncing panel.
By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States).
RYR1, SDHA, SDHC, EPCAM, TP53, TSC1, TSC2, TTR, VHL, CACNA1S, POT1, CDK4, CDKN2A, ACD, FLCN, FGA, FH, GSN, LYZ, MC1R , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel.
By Invitae (United States).
STK4, TAPBP, TNFRSF4, CD27, CD40LG, ZAP70, CARD11, CD3D, CD3E, CD3G, CD247, CD8A, LRBA, DCLRE1C, ADA, DOCK8, CORO1A, CTPS1, NHEJ1, MAGT1 , (...)
View the complete list with 29 more genes
Specificity
3 %
Genes
100 % |
Invitae Primary Immunodeficiency Panel.
By Invitae (United States).
RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...)
View the complete list with 187 more genes
Specificity
1 %
Genes
100 % |
Invitae Combined Immunodeficiency (CID) Panel.
By Invitae (United States).
STK4, TAPBP, TNFRSF4, CD27, CD40LG, ZAP70, CARD11, CD3G, CD8A, LRBA, DOCK8, CTPS1, MAGT1, DOCK2, TAP1, TAP2, ICOS, IKBKB, IL21, IL21R , (...)
View the complete list with 12 more genes
Specificity
4 %
Genes
100 % |
You can get up to 11 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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