Chromosome Xq26.3 Duplication Syndrome

Description

X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1 ) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds (Beckers et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome Xq26.3 Duplication Syndrome

  • Pica
  • Neoplasm
  • Coarse facial features
  • Ventricular hypertrophy
  • Tall stature
  • Overgrowth
  • Accelerated skeletal maturation
  • Acanthosis nigricans
  • Precocious puberty
  • Large hands
And another 7 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.


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Chromosome Xq26.3 Duplication Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hyper IgM Syndrome (HIGM): (CD40LG [TNFSF5 for HIGM1) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

CD40LG
Specificity
100 %
Genes
50 %
Hyper IgM Syndrome (HIGM): (CD40LG [TNFSF5] for HIGM1 (Known mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

CD40LG
Specificity
100 %
Genes
50 %
Hyper IgM Syndrome (HIGM): Four-gene Profile (AICDA, UNG, CD40, CD40LG) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

UNG, AICDA, CD40, CD40LG
Specificity
25 %
Genes
50 %
CD40LG Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CD40LG
Specificity
100 %
Genes
50 %
CD40LG Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CD40LG
Specificity
100 %
Genes
50 %
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

UNG, ADA, IKBKG, ATM, MRE11, NBN, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, XIAP, PTPRC, PIK3CD, LRBA, NFKBIA, NFKB2, PIK3R1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
Humoral dysfunction Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Humoral dysfunction Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Humoral dysfunction Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
50 %
Immunodeficiency, X-linked with hyper-IgM (sequence analysis of CD40LG gene).

By CGC Genetics in Portugal.

CD40LG
Specificity
100 %
Genes
50 %
Immunodeficiency with hyper IgM type 1.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CD40LG
Specificity
100 %
Genes
50 %
X-Linked Hyper IgM Syndrome via CD40LG Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CD40LG
Specificity
100 %
Genes
50 %
Hyper IgM Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UNG, ATM, MRE11, NBN, BTK, SH2D1A, AICDA, CD40, CD40LG, PIK3CD, NFKBIA
Specificity
10 %
Genes
50 %
CD40 Ligand gene.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute in United States.

CD40LG
Specificity
100 %
Genes
50 %
CD40LG.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CD40LG
Specificity
100 %
Genes
50 %
B cell pathology panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

UNG, BTK, TNFRSF13B, AICDA, CD40, CD40LG, CD19, CD81, ICOS, TNFRSF13C, BLNK, CD79A, IGLL1, CD79B
Specificity
8 %
Genes
50 %
Severe combined immunodeficiency (SCID) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

AK2, ADA, IL2RG, PNP, DCLRE1C, TBX1, DOCK8, JAK3, STIM1, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Immunodeficiency, X-linked, with hyper-IgM.

By Centogene AG - the Rare Disease Company in Germany.

CD40LG
Specificity
100 %
Genes
50 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
Antibody deficiencies Panel.

By CeGaT GmbH in Germany.

UNG, RTEL1, BTK, TCF4, DKC1, TNFRSF13B, AICDA, CD40, CD40LG, LRBA, NFKB2, PIK3R1, CD19, CR2, CD81, ICOS, TNFRSF13C, MS4A1, LRRC8A, BLNK , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %
Combined immunodeficiencies Panel.

By CeGaT GmbH in Germany.

TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
50 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
50 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

TAP1, AK2, ADA, IL2RG, PNP, DCLRE1C, MAGT1, DOCK8, JAK3, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, ITK, RAC2, NHEJ1, LIG4 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
50 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
50 %
Invitae Hyper IgM Syndrome Panel.

By Invitae in United States.

UNG, AICDA, CD40LG
Specificity
34 %
Genes
50 %
Invitae Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

TAP1, MAGT1, DOCK8, CD40LG, ZAP70, ITK, RAC2, LRBA, CD27, CIITA, RFX5, RFXANK, RFXAP, STK4, ICOS, CARD11, B2M, IL21, IL21R, MALT1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
X-linked Hyper-IgM syndrome: CD40LG gene sequence analysis.

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

CD40LG
Specificity
100 %
Genes
50 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
CD40LG.

By Fulgent Genetics Fulgent Genetics in United States.

CD40LG
Specificity
100 %
Genes
50 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
50 %
Immunodeficiency, X-linked, with hyper-IgM.

By Bioarray in Spain.

CD40LG
Specificity
100 %
Genes
50 %
Immune Report Card.

By OmniSeq, Inc. in United States.

STAT1, TGFB1, FOXP3, CCL2, CSF1R, CD40, CD40LG, CD27, CTLA4, ICOS, MS4A1, DDX58, IL10, IFNG, IL1B, CD8A, TNFSF4, TNF, CD4, CD244 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
50 %
HYPER-IgM SYNDROME TYPE 1 (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

CD40LG
Specificity
100 %
Genes
50 %
X-Linked Hyper IgM Syndrome, Sequencing CD40LG Gene.

By Reference Laboratory Genetics in Spain.

CD40LG
Specificity
100 %
Genes
50 %
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

STAT1, TGFB1, STAT3, IKBKG, GATA2, DCLRE1C, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, RAG1, AKT1, CXCR4, PIK3CD, NFKBIA, CTLA4, IL17F , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
50 %
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes.

By Reference Laboratory Genetics in Spain.

TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Hyper IgM Syndrome ,Panel Massive Sequencing (NGS) 4 Genes.

By Reference Laboratory Genetics in Spain.

UNG, AICDA, CD40, CD40LG
Specificity
25 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
Hyper IgM Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CD40LG
Specificity
100 %
Genes
50 %
Hyper IgM Syndrome: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

CD40LG
Specificity
100 %
Genes
50 %
Acromegaly, predisposition to, due to germline GPR101 mutation.

By Centogene AG - the Rare Disease Company in Germany.

GPR101
Specificity
100 %
Genes
50 %
GPR101.

By Fulgent Genetics Fulgent Genetics in United States.

GPR101
Specificity
100 %
Genes
50 %

Alternate names

Chromosome Xq26.3 Duplication Syndrome Is also known as chromosome xq26 microduplication syndrome, x-linked acrogigantism;xlag;familial infantile gigantism due to xq26 microduplication; familial infantile gigantism due to dup(x)q(26); x-lag (x-linked acrogigantism) due to dup(x)q(26).



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