OCRL gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to OCRL gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Aminoaciduria Very Common - Between 80% and 100% cases
Umbilical hernia Very Common - Between 80% and 100% cases
Renal tubular acidosis Very Common - Between 80% and 100% cases
Acidosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Metabolic acidosis
  • Hypercalciuria
  • Cognitive impairment
  • Proteinuria
  • Global developmental delay
  • Short stature
  • Nephrocalcinosis
  • Not very common - Between 30% and 50% cases

  • Narrow palate

And 156 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to OCRL gene

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


OCULOCEREBRORENAL SYNDROME OF LOWE


Alternate names

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy, phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency, oculo-cerebro-renal dystrophy, oculo-cerebro-renal syndrome, lowe disease, ocrl1, ocrl, ocr, lowe syndrome, phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency, l

Description

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

Most common symptoms of OCULOCEREBRORENAL SYNDROME OF LOWE

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about OCULOCEREBRORENAL SYNDROME OF LOWE

SOURCES: ORPHANET OMIM

DENT DISEASE TYPE 2


Alternate names

DENT DISEASE TYPE 2 Is also known as nephrolithiasis type 2

Description

Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.

Most common symptoms of DENT DISEASE TYPE 2

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Cognitive impairment
  • Intellectual disability, mild


More info about DENT DISEASE TYPE 2

SOURCES: ORPHANET OMIM


Potential gene panels for OCRL 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

OCRL Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the OCRL gene.

More info about this panel

OCRL Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the OCRL gene.

More info about this panel

OCRL Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the OCRL gene.

More info about this panel

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

NGS XLID Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-linked Intellectual Disabilities Sequencing Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-linked Intellectual Disabilities Sequencing that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

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

X-linked Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago X-linked Non-Specific Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 SYN1

More info about this panel

ExomePLUS Electrolyte & Kidney Stone Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73

More info about this panel

OCRL Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the OCRL gene.

More info about this panel

CustomNext: Neuro Panel

United States.

By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

Neurodevelopment-Expanded Panel

United States.

By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2

More info about this panel

IDNext Panel

United States.

By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2

More info about this panel

OCRL1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the OCRL gene.

More info about this panel

OCRL. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the OCRL gene.

More info about this panel

Lowe syndrome (sequence analysis of OCRL gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the OCRL gene.

More info about this panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Lowe syndrome Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the OCRL gene.

More info about this panel

Lowe syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the OCRL gene.

More info about this panel

Dent disease 2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the OCRL gene.

More info about this panel

Dent Disease (Type 1 & Type 2) Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Dent Disease (Type 1 & Type 2) that also includes the following genes: CLCN5 OCRL

More info about this panel

Oculocerebrorenal Syndrome of Lowe (Lowe syndrome) and Dent Disease - 2 via OCRL Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the OCRL gene.

More info about this panel

Dent Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dent Disease Sequencing Panel with CNV Detection that also includes the following genes: CLCN5 OCRL

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2

More info about this panel

Abnormal mineralization disorders Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Abnormal mineralization disorders Comprehensive Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1

More info about this panel

Abnormal mineralization disorders Deletion/ Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Abnormal mineralization disorders Deletion/ Duplication Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1

More info about this panel

Abnormal mineralization disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Abnormal mineralization disorders NGS panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP27B1 DMP1 ENPP1

More info about this panel

Nephrolithiasis and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Nephrolithiasis and related disorders NGS panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR

More info about this panel

Nephrolithiasis and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Nephrolithiasis and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR

More info about this panel

Nephrolithiasis and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Nephrolithiasis and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR

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

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

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

X-Linked Mental Retardation Panel

Germany.

By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3

More info about this panel

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

Germany.

By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1

More info about this panel

Dent Disease 2 Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the OCRL gene.

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

Lowe oculocerebrorenal syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the OCRL gene.

More info about this panel

Dent disease type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the OCRL gene.

More info about this panel

Lowe Syndrome testing Panel

United Kingdom.

By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust

This panel specifically test the OCRL gene.

More info about this panel

Hypophosphatemic rickets Panel Panel

Germany.

By CeGaT GmbH Hypophosphatemic rickets Panel that also includes the following genes: SLC34A1 VDR CLCN5 SLC34A3 DMP1 ENPP1 FAH FGF23 KL OCRL

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel

Single gene testing OCRL Panel

Germany.

By CeGaT GmbH

This panel specifically test the OCRL gene.

More info about this panel

Dent disease 2 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the OCRL gene.

More info about this panel

Lowe syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the OCRL gene.

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

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Dent disease 2 Panel

Slovakia.

By MedGene

This panel specifically test the OCRL gene.

More info about this panel

Lowe syndrome Panel

Slovakia.

By MedGene

This panel specifically test the OCRL gene.

More info about this panel

Invitae Congenital Cataracts Panel Panel

United States.

By Invitae Invitae Congenital Cataracts Panel that also includes the following genes: BFSP1 BFSP2 FYCO1 VSX2 BCOR AGK CRYAA CRYAB CRYBA1 CRYBB1

More info about this panel

Dent disease type 2: OCRL gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the OCRL gene.

More info about this panel

Lowe syndrome: OCRL gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the OCRL gene.

More info about this panel

Dent disease: sequencing of CLCN5 and OCRL genes Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Dent disease: sequencing of CLCN5 and OCRL genes that also includes the following genes: CLCN5 OCRL

More info about this panel

Lowe Syndrome: OCRL Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the OCRL gene.

More info about this panel

Lowe Syndrome: OCRL Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the OCRL gene.

More info about this panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

XLID NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

OCRL Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the OCRL gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

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

X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

More info about this panel

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

Finland.

By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN

More info about this panel

Cataract Panel Panel

Finland.

By Blueprint Genetics Cataract Panel that also includes the following genes: BFSP1 BFSP2 TFAP2A VIM WFS1 WRN FYCO1 PXDN CHMP4B RAB3GAP1

More info about this panel

Nephrolithiasis Panel Panel

Finland.

By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2

More info about this panel

Lowe syndrome Panel

Spain.

By Bioarray

This panel specifically test the OCRL gene.

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

DENT SYNDROME TYPE 2 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the OCRL gene.

More info about this panel

LOWE SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the OCRL gene.

More info about this panel

Dent Disease Type 2, Sequencing OCRL Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the OCRL gene.

More info about this panel

Lowe Syndrome, Sequencing OCRL Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the OCRL gene.

More info about this panel

Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel

Spain.

By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B

More info about this panel

Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel

Spain.

By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C

More info about this panel


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