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.

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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

SOURCES: ORPHANET MESH OMIM

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


Potential gene panels for LMX1B gene

MitoMet®Plus aCGH Analysis Panel

United States.

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 panel

LMX1B Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LMX1B gene.

More info about this panel

LMX1B Deletion/Duplication Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LMX1B gene.

More info about this panel

LMX1B Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LMX1B gene.

More info about this panel

LMX1B Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LMX1B gene.

More info about this panel

LMX1B Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the LMX1B gene.

More info about this panel

Optic Atrophy and Early Glaucoma Panel Panel

United States.

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 panel

Exome PLUS Proteinuria/FSGS & Hematuria Panel

United States.

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 panel

LMX1B. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the LMX1B gene.

More info about this panel

Nail-patella syndrome (sequence analysis of LMX1B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LMX1B gene.

More info about this panel

Nail Patella syndrome Panel

United Kingdom.

By Mersey Regional Genetics Laboratories Liverpool Women's Hospital

This panel specifically test the LMX1B gene.

More info about this panel

Nail-patella syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the LMX1B gene.

More info about this panel

Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel

United States.

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 panel

Glaucoma Sequencing Panel with CNV Detection Panel

United States.

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 panel

Nail-Patella Syndrome via LMX1B Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LMX1B gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

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 panel

Nephrotic syndrome and related disorders Comprehensive panel Panel

United States.

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 panel

Nephrotic syndrome and related disorders NGS panel Panel

United States.

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 panel

Nephrotic syndrome and related disorders Deletion / Duplication panel Panel

United States.

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 panel

Nail-Patella syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the LMX1B gene.

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

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 panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

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 panel

Nail-Patella Syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the LMX1B gene.

More info about this panel

Nail-Patella syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LMX1B gene.

More info about this panel

Nail-patella syndrome Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the LMX1B gene.

More info about this panel

Selected Genetic Syndromes with skeletal involvement Panel Panel

Germany.

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 panel

Single gene testing LMX1B Panel

Germany.

By CeGaT GmbH

This panel specifically test the LMX1B gene.

More info about this panel

Glaucoma Panel

Estonia.

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 panel

qChip Panel

Spain.

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 panel

Nail-patella syndrome: LMX1B gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the LMX1B gene.

More info about this panel

Glaucoma (Advance) Panel

Spain.

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 panel

Glaucoma NGS Panel Panel

United States.

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 panel

LMX1B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LMX1B gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

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 panel

Nephrotic Syndrome Panel Panel

Finland.

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 panel

Glaucoma Panel Panel

Finland.

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 panel

Skeletal Dysplasias Core Panel Panel

Finland.

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 panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

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 panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

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 panel

Nail-patella syndrome Panel

Spain.

By Bioarray

This panel specifically test the LMX1B gene.

More info about this panel

Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set Panel

United States.

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 panel

Rapid microarray (CGH and SNP) Panel

United States.

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 panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

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 panel

NAIL-PATELLA SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the LMX1B gene.

More info about this panel

GLAUCOMA NGS ÀNEL Panel

Spain.

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 panel

Nail Patella Syndrome, Sequencing LMX1B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LMX1B gene.

More info about this panel

Onychopatellar Syndrome , Panel Massive Sequencing (NGS) LMXB1, PITX1, TBX4 Genes Panel

Spain.

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 panel

Nail-Patella Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the LMX1B gene.

More info about this panel

Nail-Patella Syndrome: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the LMX1B gene.

More info about this panel


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