SMARCD2 gene related symptoms and diseases

All the information presented here about the SMARCD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SMARCD2 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Anemia Very Common - Between 80% and 100% cases
Abnormality of the skeletal system Very Common - Between 80% and 100% cases
Diarrhea Very Common - Between 80% and 100% cases
Recurrent infections Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SMARCD2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Thrombocytopenia
  • Pneumonia
  • Abnormality of the pinna
  • Neutropenia
  • Nail dysplasia
  • Recurrent otitis media
  • Chronic diarrhea
  • Recurrent bacterial infections

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SMARCD2 gene

Here you will find a list of rare diseases related to the SMARCD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY


Alternate names

RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY Is also known as neutrophil-specific granule deficiency

Description

Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017).For a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM ).

Most common symptoms of RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY

  • Global developmental delay
  • Anemia
  • Abnormality of the skeletal system
  • Diarrhea
  • Recurrent infections


More info about RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY

SOURCES: OMIM ORPHANET


Potential gene panels for SMARCD2 gene

Severe Congenital Neutropenia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Severe Congenital Neutropenia Sequencing Panel with CNV Detection that also includes the following genes: SMARCD2 TAZ WAS WIPF1 WDR1 VPS45 HAX1 SBDS LYST VPS13B

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

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Congenital Neutropenia Panel Panel

Finland.

By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST

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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