OCA2 gene related symptoms and diseases
All the information presented here about the OCA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to OCA2 gene
Symptoms // Phenotype | % Cases |
---|---|
Red hair | Uncommon - Between 30% and 50% cases |
Generalized hypopigmentation | Uncommon - Between 30% and 50% cases |
Albinism | Uncommon - Between 30% and 50% cases |
Nystagmus | Rare - less than 30% cases |
Hypopigmentation of hair | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with OCA2 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Freckles in sun-exposed areas
- Squamous cell carcinoma of the skin
- Hypopigmentation of the fundus
- Abnormality of the optic nerve
- Ocular albinism
- Blue irides
- Hypoplasia of the fovea
- Iris hypopigmentation
And 16 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to OCA2 gene
Here you will find a list of rare diseases related to the OCA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OCULOCUTANEOUS ALBINISM TYPE 2
Alternate names
OCULOCUTANEOUS ALBINISM TYPE 2 Is also known as oca2, oculocutaneous albinism, type ii, oculocutaneous albinism, tyrosinase-positive, albinism ii
Description
Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.
Most common symptoms of OCULOCUTANEOUS ALBINISM TYPE 2
- Nystagmus
- Neoplasm
- Strabismus
- Visual impairment
- Myopia
More info about OCULOCUTANEOUS ALBINISM TYPE 2
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1
Alternate names
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1 Is also known as eye color, blue/nonblue, skin/hair/eye pigmentation 1, blue/nonblue eyes, brown eye color 2, eycl3, bey2, eye color 3, skin/hair/eye pigmentation 1, blue/brown eyes, eye color, brown/blue, hair color 3, skin/hair/eye pigmentation 1, blond/brown hair, hcl3
Description
Most common symptoms of SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1
- Abnormality of the eye
- Albinism
- Generalized hypopigmentation
- Red hair
More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1
SOURCES: OMIM
PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15
Alternate names
PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15 Is also known as upd(15)mat
More info about PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15
SOURCES: ORPHANET
ANGELMAN SYNDROME DUE TO MATERNAL 15Q11Q13 DELETION
Alternate names
ANGELMAN SYNDROME DUE TO MATERNAL 15Q11Q13 DELETION Is also known as angelman syndrome due to maternal monosomy 15q11q13
More info about ANGELMAN SYNDROME DUE TO MATERNAL 15Q11Q13 DELETION
SOURCES: ORPHANET
Search interest in OCA2
Potential gene panels for OCA2 gene
MitoMet®Plus aCGH Analysis Panel
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 panelOCA2 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the OCA2 gene.
More info about this panelOCA2 Sequence Analysis (Familial Mutation/Variant Analysis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the OCA2 gene.
More info about this panelOCA2 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the OCA2 gene.
More info about this panelOCA2 Targeted Deletion Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the OCA2 gene.
More info about this panelOCA2 Targeted Deletion Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the OCA2 gene.
More info about this panelOcular Albinism and Hermansky Pudlak Panel Panel
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 panelOculocutaneous Albinism Type 2 - OCA2 Sequencing Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the OCA2 gene.
More info about this panelOculocutaneous albinism, Type 1, 2, 3, 4, 6, 7, NGS panel Panel
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Oculocutaneous albinism, Type 1, 2, 3, 4, 6, 7, NGS panel that also includes the following genes: TYR TYRP1 SLC45A2 SLC24A5 LRMDA OCA2
More info about this panelOculocutaneous albinism type 2 Panel
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the OCA2 gene.
More info about this panelAlbinism sequencing panel Panel
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 panelAlbinism Deletion/Duplication Panel Panel
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 panelOCA2 mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the OCA2 gene.
More info about this panelOCA2. MLPA testing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the OCA2 gene.
More info about this panelOCA2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the OCA2 gene.
More info about this panelAlbinism (NGS panel for 12 genes) Panel
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 panelAlbinism oculocutaneous type II (deletion on OCA2 gene) Panel
By CGC Genetics
This panel specifically test the OCA2 gene.
More info about this panelAlbinism oculocutaneous type II (sequence analysis of OCA2 gene) Panel
By CGC Genetics
This panel specifically test the OCA2 gene.
More info about this panelOculocutaneous Albinism Type 2 Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the OCA2 gene.
More info about this panelAlbinism - OCA2 sequencing P gene Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the OCA2 gene.
More info about this panelOculocutaneous Albinism Sequencing Panel with CNV Detection Panel
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 panelOculocutaneous Albinism Type 2 (OCAII) via the OCA2 Known Intragenic Gross Deletion Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the OCA2 gene.
More info about this panelOculocutaneous Albinism Type 2 (OCAII) via OCA2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the OCA2 gene.
More info about this panelHypopigmentation Sequencing Panel with CNV Detection Panel
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 panelEye Diseases - panels Panel
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 panelOcular / Oculocutaneous Albinism Panel
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 panelAlbinism Panel
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 panelAlbinism, oculocutaneous type II Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the OCA2 gene.
More info about this panelAlbinism Panel Panel
By CeGaT GmbH Albinism Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R OCA2
More info about this panelAlbinism Panel Panel
By CeGaT GmbH Albinism Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R OCA2
More info about this panelSingle gene testing OCA2 Panel
By CeGaT GmbH
This panel specifically test the OCA2 gene.
More info about this panelOculocutaneous Albinism Panel
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 panelHermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Panel
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 panelAlbinism, oculocutaneous II Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the OCA2 gene.
More info about this panelqChip Panel
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 panelAlbinism, oculocutaneous II Panel
By MedGene
This panel specifically test the OCA2 gene.
More info about this panelOculocutaneous albinism type 2: OCA2 gene 2.7 kb deletion analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the OCA2 gene.
More info about this panelOculocutaneous albinism type 2: OCA2 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the OCA2 gene.
More info about this panelAlbinism Panel
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 panelAlbinism: Sequencing Panel Panel
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 panelEye Disorders: Comprehensive Sequencing Panel Panel
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 panelAlbinism: Deletion/Duplication Panel Panel
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 panelEye Disorders: Deletion/Duplication Panel Panel
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 panelAlbinism NGS Panel Panel
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 panelOCA2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the OCA2 gene.
More info about this panelAlbinism Panel Panel
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 panelComprehensive Hematology Panel Panel
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 panelHermansky-Pudlak Syndrome Panel Panel
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 panelOculocutaneous albinism type 2 Panel
By Bioarray
This panel specifically test the OCA2 gene.
More info about this panelOculocutaneous albinism type 2 Panel
By Bioarray
This panel specifically test the OCA2 gene.
More info about this panelAlbinism, oculocutaneous, type IA Panel
By Bioarray
This panel specifically test the OCA2 gene.
More info about this panelRapid microarray (CGH and SNP) Panel
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 panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
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 panelALBINISM: NGS PANEL Panel
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 panelOCULOCUTANEOUS ALBINISM Panel
By Laboratorio de Genetica Clinica SL OCULOCUTANEOUS ALBINISM that also includes the following genes: TYR TYRP1 SLC45A2 SLC24A5 OCA2
More info about this panelOCULOCUTANEOUS ALBINISM (OCA) Panel
By Laboratorio de Genetica Clinica SL OCULOCUTANEOUS ALBINISM (OCA) that also includes the following genes: TYR TYRP1 SLC45A2 OCA2
More info about this panelAlbinisim panel Panel
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 panelOculotaneous Albinism Type 2, Sequencing OCA2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the OCA2 gene.
More info about this panelAlbinism , Panel Massive Sequencing (NGS) 12 Genes Panel
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 panelOculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes Panel
By Reference Laboratory Genetics Oculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: TYR TYRP1 SLC45A2 SLC24A5 LRMDA MC1R OCA2
More info about this panelOculocutaneous Albinism Type 2: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the OCA2 gene.
More info about this panelOculocutaneous Albinism Type 2: gene deletion/duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the OCA2 gene.
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