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.

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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

SOURCES: ORPHANET MESH OMIM

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


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

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

GPR143 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GPR143 gene.

More info about this panel

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

GPR143 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GPR143 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Nystagmus type 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GPR143 gene.

More info about this panel

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

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

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

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

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

Single gene testing GPR143 Panel

Germany.

By CeGaT GmbH

This panel specifically test the GPR143 gene.

More info about this panel

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

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

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

GPR143/OA1 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the GPR143 gene.

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

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

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

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

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

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

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

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

GPR143 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GPR143 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

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

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

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

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

ALBINISM, OCULAR, TYPE I; OA1 Panel

Spain.

By Bioarray

This panel specifically test the GPR143 gene.

More info about this panel

X-linked recessive ocular albinism Panel

Spain.

By Bioarray

This panel specifically test the GPR143 gene.

More info about this panel

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

OCULAR ALBINISM (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GPR143 gene.

More info about this panel

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

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

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

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

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

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


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