LRP2 gene related symptoms and diseases

All the information presented here about the LRP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LRP2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Epiphyseal dysplasia Very Common - Between 80% and 100% cases
Broad nasal tip Very Common - Between 80% and 100% cases
Intestinal malrotation Very Common - Between 80% and 100% cases
Progressive visual loss Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LRP2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Congenital diaphragmatic hernia
  • High myopia
  • Omphalocele
  • Heterotopia
  • Wide anterior fontanel
  • Abnormal vertebral morphology
  • Aminoaciduria
  • Aplasia/Hypoplasia of the corpus callosum

And 46 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to LRP2 gene

Here you will find a list of rare diseases related to the LRP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DONNAI-BARROW SYNDROME


Alternate names

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness, diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria, foar syndrome, facio-oculo-acoustico-renal syndrome, diaphragmatic her

Description

Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

Most common symptoms of DONNAI-BARROW SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


More info about DONNAI-BARROW SYNDROME

SOURCES: OMIM ORPHANET MESH


Potential gene panels for LRP2 gene

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

Autosomal Recessive Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Autosomal Recessive Non-Specific Intellectual Disability Panel that also includes the following genes: ST3GAL3 SLC25A1 STXBP1 VLDLR ERLIN2 CA8 CNTNAP2 ARFGEF2 PCNT L2HGDH

More info about this panel

LRP2 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the LRP2 gene.

More info about this panel

LRP2 deletion/duplication Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the LRP2 gene.

More info about this panel

Donnai-Barrow syndrome (sequence analysis of LRP2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LRP2 gene.

More info about this panel

Periventricular nodular heterotopia (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Periventricular nodular heterotopia (NGS panel of 8 genes) that also includes the following genes: DCHS1 ARFGEF2 ERMARD FAT4 FLNA FMR1 LRP2 NEDD4L

More info about this panel

Periventricular nodular heterotopia (NGS panel of 8 genes) Panel

Portugal.

By CGC Genetics Periventricular nodular heterotopia (NGS panel of 8 genes) that also includes the following genes: DCHS1 ARFGEF2 ERMARD FAT4 FLNA FMR1 LRP2 NEDD4L

More info about this panel

Donnai Barrow syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the LRP2 gene.

More info about this panel

Stickler Syndrome Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Stickler Syndrome Sequencing Panel that also includes the following genes: LOXL3 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN LRP2

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

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

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

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

LRP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LRP2 gene.

More info about this panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Stickler Syndrome Panel Panel

Finland.

By Blueprint Genetics Stickler Syndrome Panel that also includes the following genes: COL11A1 COL11A2 COL9A1 COL9A2 COL9A3 VCAN LRP2

More info about this panel

Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK

More info about this panel

DONNAI-BARROW SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the LRP2 gene.

More info about this panel

Donnai-Barrow Syndrome , Massive Sequencing (NGS) LRP2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the LRP2 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GTF2I DLG4 TET1 RRAS CPT1C

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more