SMARCAL1 gene related symptoms and diseases
All the information presented here about the SMARCAL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SMARCAL1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Glomerulosclerosis | Very Common - Between 80% and 100% cases |
Multiple cafe-au-lait spots | Very Common - Between 80% and 100% cases |
Steatorrhea | Very Common - Between 80% and 100% cases |
Hypermelanotic macule | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SMARCAL1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Combined immunodeficiency
- High pitched voice
- Emphysema
- Focal segmental glomerulosclerosis
- Spondyloepiphyseal dysplasia
- Melanocytic nevus
- Nephritis
- Glomerulonephritis
And 107 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SMARCAL1 gene
Here you will find a list of rare diseases related to the SMARCAL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SCHIMKE IMMUNO-OSSEOUS DYSPLASIA
Alternate names
SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type, schimke syndrome, spondyloepiphyseal dysplasia-nephrotic syndrome
Description
Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
Most common symptoms of SCHIMKE IMMUNO-OSSEOUS DYSPLASIA
- Intellectual disability
- Seizures
- Short stature
- Scoliosis
- Growth delay
More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA
Search interest in SMARCAL1
Potential gene panels for SMARCAL1 gene
SMARCAL1 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SMARCAL1 gene.
More info about this panelSMARCAL1 Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SMARCAL1 gene.
More info about this panelSchimke immunoosseous dysplasia Panel
By Human Genetics University Hospital Bern
This panel specifically test the SMARCAL1 gene.
More info about this panelSchimke immunoosseous dysplasia (sequece analysis of SMARCAL1 gene) Panel
By CGC Genetics
This panel specifically test the SMARCAL1 gene.
More info about this panelSchimke immunoosseous dysplasia Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the SMARCAL1 gene.
More info about this panelNephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP TP53RK ACTN4 SCARB2
More info about this panelSchimke Immunoosseous Dysplasia via SMARCAL1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the SMARCAL1 gene.
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panelSpondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panelSpondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panelSpondylo-Epi-Metaphyseal dysplasias NGS panel Panel
By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B
More info about this panelNephrotic syndrome and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Comprehensive panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panelNephrotic syndrome and related disorders NGS panel Panel
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders NGS panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panelNephrotic syndrome and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panelSchimke immunoosseous dysplasia Panel
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the SMARCAL1 gene.
More info about this panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelNephrology Endocrinology and Electrolytes - panels Panel
By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3
More info about this panelSchimke immunoosseous dysplasia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the SMARCAL1 gene.
More info about this panelNephrotic Syndrome Panel Panel
By CeGaT GmbH Nephrotic Syndrome Panel that also includes the following genes: SMARCAL1 WT1 NPHS2 PLCE1 COQ8B COQ2 WDR73 DGKE EMP2 ITGA3
More info about this panelSpondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel Panel
By CeGaT GmbH Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel that also includes the following genes: RMRP SMARCAL1 ACP5 CCN6 XYLT1 RAB33B B3GALT6 TRPV4 CHST3 CANT1
More info about this panelSyndromes with immunodeficiency Panel Panel
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 panelInvitae Primary Immunodeficiency Panel Panel
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 panelInvitae Syndromic Combined Immunodeficiency (CID) Panel Panel
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 panelSchimke immunoosseous dysplasia: SMARCAL1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SMARCAL1 gene.
More info about this panelProportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3
More info about this panelDisproportionate Short Stature: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11
More info about this panelSkeletal Dysplasia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panelDisproportionate Short Stature: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1
More info about this panelSkeletal Dysplasias NGS panel Panel
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panelSMARCAL1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SMARCAL1 gene.
More info about this panelKidneySeq - 264 Genes Panel
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panelNephrotic Syndrome Panel Panel
By Blueprint Genetics Nephrotic Syndrome Panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1
More info about this panelSpondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel Panel
By Blueprint Genetics Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel that also includes the following genes: RMRP BGN SMARCAL1 ACP5 CCN6 RAB33B B3GALT6 TRPV4 CHST3 CANT1
More info about this panelPrimary Immunodeficiency Panel Panel
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 panelSevere Combined Immunodeficiency Panel Panel
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 panelSkeletal Dysplasias Core Panel Panel
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelNephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set that also includes the following genes: SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1 CRB2
More info about this panelSCHIMKE IMMUNO-OSSEOUS DYSPLASIA Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the SMARCAL1 gene.
More info about this panelSchimke Immunoosseus Dysplasia , Sequencing SMARCAL1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the SMARCAL1 gene.
More info about this panelSchimke Immunoosseous Dysplasia: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SMARCAL1 gene.
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