GPR143 gene related symptoms and diseases
All the information presented here about the GPR143 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 GPR143 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Albinism | Very Common - Between 80% and 100% cases |
| Congenital nystagmus | Very Common - Between 80% and 100% cases |
| Hypoplasia of the fovea | Very Common - Between 80% and 100% cases |
| Ocular albinism | Very Common - Between 80% and 100% cases |
| Amblyopia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GPR143 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypopigmentation of the skin
- Astigmatism
- Strabismus
- Nystagmus
Not very common - Between 30% and 50% cases
- Nystagmus-induced head nodding
- Giant melanosomes in melanocytes
- Abnormal macular morphology
- Depigmented fundus
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GPR143 gene
Here you will find a list of rare diseases related to the GPR143. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED RECESSIVE OCULAR ALBINISM
Alternate names
X-LINKED RECESSIVE OCULAR ALBINISM Is also known as ocular albinism type 1, ocular albinism, nettleship-falls type, nettleship-falls type ocular albinism, oa1, xloa
Description
X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.
Most common symptoms of X-LINKED RECESSIVE OCULAR ALBINISM
- Intellectual disability
- Short stature
- Nystagmus
- Strabismus
- Visual impairment
More info about X-LINKED RECESSIVE OCULAR ALBINISM
NYSTAGMUS 6, CONGENITAL, X-LINKED; NYS6
Description
Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007).For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (OMIM ).
Most common symptoms of NYSTAGMUS 6, CONGENITAL, X-LINKED; NYS6
- Nystagmus
- Strabismus
- Reduced visual acuity
- Astigmatism
- Hypopigmentation of the skin
More info about NYSTAGMUS 6, CONGENITAL, X-LINKED; NYS6
SOURCES: OMIM
Search interest in GPR143
Potential gene panels for GPR143 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 United States.
GPR143 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GPR143 gene.
More info about this panel United States.
GPR143 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GPR143 gene.
More info about this panel United States.
GPR143 Deletion/Duplication Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GPR143 gene.
More info about this panel United States.
GPR143 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GPR143 gene.
More info about this panel United States.
GPR143 Sequence Analysis (Familial Mutation/Variant Analysis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GPR143 gene.
More info about this panel United States.
GPR143 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GPR143 gene.
More info about this panel United States.
Ocular Albinism and Hermansky Pudlak Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Ocular Albinism and Hermansky Pudlak Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel United States.
Ocular Albinism, Type 1 - GPR143 sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the GPR143 gene.
More info about this panel United States.
Albinism sequencing panel Panel
United States.
By Genetic Services Laboratory University of Chicago Albinism sequencing panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel United States.
Albinism Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Albinism Deletion/Duplication Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel United States.
GPR143 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the GPR143 gene.
More info about this panel Netherlands.
GPR143. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GPR143 gene.
More info about this panel Spain.
GPR143. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GPR143 gene.
More info about this panel Spain.
Ocular albinism type I (sequence analysis of GPR143 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GPR143 gene.
More info about this panel Portugal.
Ocular albinism type I (deletion/duplication analysis of GPR143 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GPR143 gene.
More info about this panel Portugal.
Albinism (NGS panel for 12 genes) Panel
Portugal.
By CGC Genetics Albinism (NGS panel for 12 genes) that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R MITF MYO5A
More info about this panel Portugal.
Oculocutaneous Albinism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Oculocutaneous Albinism Sequencing Panel with CNV Detection that also includes the following genes: TYR TYRP1 SLC45A2 HPS6 LYST GPR143 SLC24A5 LRMDA MC1R MITF
More info about this panel United States.
Ocular Albinism (OA1) via GPR143 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GPR143 gene.
More info about this panel United States.
Hypopigmentation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypopigmentation Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panel United States.
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.
Ocular / Oculocutaneous Albinism Panel
Germany.
By MGZ Medical Genetics Center Ocular / Oculocutaneous Albinism that also includes the following genes: TYR TYRP1 SLC45A2 GPR143 SLC24A5 LRMDA SLC38A8 FRMD7 OCA2
More info about this panel Germany.
Nystagmus type 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GPR143 gene.
More info about this panel Germany.
Albinism, ocular type I, Nettleship-Falls type Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GPR143 gene.
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.
Albinism Panel
Germany.
By Centogene AG - the Rare Disease Company Albinism that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 MC1R MITF MYO5A OCA2 RAB27A
More info about this panel Germany.
Albinism Panel Panel
Germany.
By CeGaT GmbH Albinism Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R OCA2
More info about this panel Germany.
Albinism Panel Panel
Germany.
By CeGaT GmbH Albinism Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R OCA2
More info about this panel Germany.
Single gene testing GPR143 Panel
Germany.
By CeGaT GmbH
This panel specifically test the GPR143 gene.
More info about this panel Germany.
Oculocutaneous Albinism Panel
Estonia.
By Asper Biogene Asper Biogene LLC Oculocutaneous Albinism that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel Estonia.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Panel
United States.
By Molecular Vision Laboratory Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panel United States.
GPR143/OA1 single gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the GPR143 gene.
More info about this panel United States.
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 Spain.
Ocular albinism type 1: GPR143 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GPR143 gene.
More info about this panel Spain.
Albinism Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Albinism that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R MITF MYO5A OCA2
More info about this panel Spain.
Albinism: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Albinism: Sequencing Panel that also includes the following genes: TYR TYRP1 SLC45A2 GPR143 SLC24A5 LRMDA OCA2
More info about this panel United States.
Eye Disorders: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Albinism: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Albinism: Deletion/Duplication Panel that also includes the following genes: TYR TYRP1 SLC45A2 GPR143 SLC24A5 LRMDA OCA2
More info about this panel United States.
Eye Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Albinism NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Albinism NGS Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 MC1R MITF MYO5A OCA2 RAB27A
More info about this panel United States.
GPR143 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GPR143 gene.
More info about this panel United States.
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 United States.
Albinism Panel Panel
Finland.
By Blueprint Genetics Albinism Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel Finland.
Neuro-Ophthalmology Panel Panel
Finland.
By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Hermansky-Pudlak Syndrome Panel Panel
Finland.
By Blueprint Genetics Hermansky-Pudlak Syndrome Panel that also includes the following genes: SFTPB SFTPC TERC TERT TINF2 TYR TYRP1 HPS3 HPS4 SLC45A2
More info about this panel Finland.
ALBINISM, OCULAR, TYPE I; OA1 Panel
Spain.
By Bioarray
This panel specifically test the GPR143 gene.
More info about this panel Spain.
X-linked recessive ocular albinism Panel
Spain.
By Bioarray
This panel specifically test the GPR143 gene.
More info about this panel Spain.
ALBINISM: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ALBINISM: NGS PANEL that also includes the following genes: TYR TYRP1 SLC45A2 HPS6 LYST GPR143 SLC24A5 LRMDA MC1R MITF
More info about this panel Spain.
OCULAR ALBINISM (X-LINKED) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GPR143 gene.
More info about this panel Spain.
Albinisim panel Panel
Canada.
By LifeLabs Genetics Albinisim panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R MITF MYO5A OCA2
More info about this panel Canada.
Ocular Albinism Type 1, Sequencing GPR143 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GPR143 gene.
More info about this panel Spain.
Ocular Albinism Type 1 , Deletions-Duplications (MLPA) GPR143 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GPR143 gene.
More info about this panel Spain.
Albinism , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Albinism , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R MITF MYO5A
More info about this panel Spain.
Ocular Albinism, X-Linked: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GPR143 gene.
More info about this panel Canada.
Ocular Albinism, X-Linked: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GPR143 gene.
More info about this panel Canada.
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