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.
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
Search interest in LRP2
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 United States.
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 United States.
LRP2 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the LRP2 gene.
More info about this panel United States.
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 United States.
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 Portugal.
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 Portugal.
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 Portugal.
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 Germany.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Spain.
LRP2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LRP2 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
DONNAI-BARROW SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the LRP2 gene.
More info about this panel Spain.
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 Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRPH RAD51B ACTG2 PAX3 MAP3K7 GBA2 HAAO