DNMT3B gene related symptoms and diseases

All the information presented here about the DNMT3B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DNMT3B gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Malnutrition Very Common - Between 80% and 100% cases
Neurodegeneration Very Common - Between 80% and 100% cases
Macroglossia Very Common - Between 80% and 100% cases
Sepsis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DNMT3B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Decreased antibody level in blood
  • Otitis media
  • Bronchiectasis
  • Sinusitis
  • Lymphopenia
  • Recurrent pneumonia
  • Combined immunodeficiency
  • Malabsorption

And 36 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DNMT3B gene

Here you will find a list of rare diseases related to the DNMT3B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ICF SYNDROME


Alternate names

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome, immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16, ciid, immunodeficiency-centromeric instability-facial anomalies syndrome, immunodeficiency syndrome, variable

Description

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

Most common symptoms of ICF SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


More info about ICF SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for DNMT3B gene

Abnormal/Ambiguous Genitalia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41

More info about this panel

Hypospadias Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2

More info about this panel

ICF syndrome (deletion/duplication analysis of DNMT3B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DNMT3B gene.

More info about this panel

ICF syndrome (deletion/duplication analysis of DNMT3B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DNMT3B gene.

More info about this panel

Hypospadias Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DNMT3B gene.

More info about this panel

Syndromes with immunodeficiency Panel Panel

Germany.

By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1

More info about this panel

Invitae Immunodeficiency, Centromeric Instability, Facial Anomalies Syndrome Panel Panel

United States.

By Invitae Invitae Immunodeficiency, Centromeric Instability, Facial Anomalies Syndrome Panel that also includes the following genes: ZBTB24 DNMT3B

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel

United States.

By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT

More info about this panel

DNMT3B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DNMT3B gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Severe Combined Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4

More info about this panel

ICF SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL ICF SYNDROME that also includes the following genes: CDCA7 ZBTB24 DNMT3B HELLS

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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