LMX1B gene related symptoms and diseases
All the information presented here about the LMX1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LMX1B gene
Symptoms // Phenotype | % Cases |
---|---|
Hypertension | Common - Between 50% and 80% cases |
Renal insufficiency | Common - Between 50% and 80% cases |
Proteinuria | Common - Between 50% and 80% cases |
Nephropathy | Common - Between 50% and 80% cases |
Hearing impairment | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with LMX1B gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Glomerulopathy
- Cataract
- Short stature
- Thickening of the lateral border of the scapula
- Iliac horns
- Concave nail
- Ridged nail
- Abnormality of the elbow
And 84 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LMX1B gene
Here you will find a list of rare diseases related to the LMX1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NAIL-PATELLA SYNDROME
Alternate names
NAIL-PATELLA SYNDROME Is also known as turner-kieser syndrome, onychoosteodysplasia
Description
Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
Most common symptoms of NAIL-PATELLA SYNDROME
- Hearing impairment
- Cataract
- Hypertension
- Renal insufficiency
- Glaucoma
More info about NAIL-PATELLA SYNDROME
SOURCES: ORPHANET
NAIL-PATELLA SYNDROME; NPS
Alternate names
NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome, nps1, fong disease, onychoosteodysplasia
Most common symptoms of NAIL-PATELLA SYNDROME; NPS
- Seizures
- Short stature
- Hearing impairment
- Scoliosis
- Neoplasm
More info about NAIL-PATELLA SYNDROME; NPS
SOURCES: OMIM
NAIL-PATELLA-LIKE RENAL DISEASE
Alternate names
NAIL-PATELLA-LIKE RENAL DISEASE Is also known as glomerular basement membrane disease, nail-patella syndrome type, salcedo syndrome
Description
Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency.
Most common symptoms of NAIL-PATELLA-LIKE RENAL DISEASE
- Short stature
- Hypertension
- Abnormality of the skeletal system
- Renal insufficiency
- Proteinuria
More info about NAIL-PATELLA-LIKE RENAL DISEASE
9Q33.3Q34.11 MICRODELETION SYNDROME
Alternate names
9Q33.3Q34.11 MICRODELETION SYNDROME Is also known as monosomy 9q33.3-q34.11, 9q33.3-q34.11 microdeletion syndrome, monosomy 9q33.3q34.11, del(9)(q33.3q34.11), deletion 9q33.3q34.11
More info about 9Q33.3Q34.11 MICRODELETION SYNDROME
SOURCES: ORPHANET
Search interest in LMX1B
Potential gene panels for LMX1B gene
MitoMet®Plus aCGH Analysis Panel
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panelLMX1B Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the LMX1B gene.
More info about this panelLMX1B Deletion/Duplication Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the LMX1B gene.
More info about this panelLMX1B Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the LMX1B gene.
More info about this panelLMX1B Sequence Analysis (Familial Mutation/Variant Analysis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the LMX1B gene.
More info about this panelLMX1B Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the LMX1B gene.
More info about this panelOptic Atrophy and Early Glaucoma Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP
More info about this panelExome PLUS Proteinuria/FSGS & Hematuria Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Exome PLUS Proteinuria/FSGS & Hematuria that also includes the following genes: CFB TRPC6 TSC1 TSC2 C1QA C1QC WT1 C3 NPHS2 ADAMTS13
More info about this panelLMX1B. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LMX1B gene.
More info about this panelNail-patella syndrome (sequence analysis of LMX1B gene) Panel
By CGC Genetics
This panel specifically test the LMX1B gene.
More info about this panelNail Patella syndrome Panel
By Mersey Regional Genetics Laboratories Liverpool Women's Hospital
This panel specifically test the LMX1B gene.
More info about this panelNail-patella syndrome Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the LMX1B 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 panelGlaucoma Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Glaucoma Sequencing Panel with CNV Detection that also includes the following genes: SLC4A4 ATOH7 OPTN MFRP COL4A1 COL8A1 COL8A2 CYP1B1 SH3PXD2B WDR36
More info about this panelNail-Patella Syndrome via LMX1B Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the LMX1B 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 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 panelNail-Patella syndrome Panel
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the LMX1B 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 panelNail-Patella Syndrome Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the LMX1B gene.
More info about this panelNail-Patella syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the LMX1B gene.
More info about this panelNail-patella syndrome Panel
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the LMX1B gene.
More info about this panelSelected Genetic Syndromes with skeletal involvement Panel Panel
By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6
More info about this panelSingle gene testing LMX1B Panel
By CeGaT GmbH
This panel specifically test the LMX1B gene.
More info about this panelGlaucoma Panel
By Asper Biogene Asper Biogene LLC Glaucoma that also includes the following genes: SLC4A4 BEST1 ACVR1 OPTN ASB10 CANT1 SBF2 COL18A1 CYP1B1 WDR36
More info about this panelqChip Panel
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panelNail-patella syndrome: LMX1B gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the LMX1B gene.
More info about this panelGlaucoma (Advance) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2
More info about this panelGlaucoma NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2
More info about this panelLMX1B Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LMX1B 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 panelGlaucoma Panel Panel
By Blueprint Genetics Glaucoma Panel that also includes the following genes: TBK1 TEK CNTNAP2 OPTN COL4A1 TMEM126A CYP1B1 WDR36 FOXC1 FOXE3
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 panelNail-patella syndrome Panel
By Bioarray
This panel specifically test the LMX1B gene.
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 panelRapid microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelNAIL-PATELLA SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the LMX1B gene.
More info about this panelGLAUCOMA NGS ÀNEL Panel
By Laboratorio de Genetica Clinica SL GLAUCOMA NGS ÀNEL that also includes the following genes: SLC4A4 TEK BEST1 ACVR1 OPTN ASB10 MFRP CANT1 SBF2 COL18A1
More info about this panelNail Patella Syndrome, Sequencing LMX1B Gene Panel
By Reference Laboratory Genetics
This panel specifically test the LMX1B gene.
More info about this panelOnychopatellar Syndrome , Panel Massive Sequencing (NGS) LMXB1, PITX1, TBX4 Genes Panel
By Reference Laboratory Genetics Onychopatellar Syndrome , Panel Massive Sequencing (NGS) LMXB1, PITX1, TBX4 Genes that also includes the following genes: TBX4 LMX1B PITX1
More info about this panelNail-Patella Syndrome: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the LMX1B gene.
More info about this panelNail-Patella Syndrome: gene deletion/duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the LMX1B gene.
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