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.

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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

SOURCES: ORPHANET MESH OMIM

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

Genetic Heterogeneity of Variation in Skin/Hair/Eye PigmentationMultiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM ) is determined by variation at the MC1R locus (OMIM ) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM ) encompasses pigment variation influenced by the TYR gene (OMIM ); SHEP4 (OMIM ), that influenced by the SLC24A5 gene (OMIM ). Variation in the SLC45A2 (OMIM ) and SLC24A4 (OMIM ) genes result in the phenotypic associations SHEP5 (OMIM ) and SHEP6 (OMIM ), respectively. Sequence variation thought to affect expression of KITLG (OMIM ) results in the SHEP7 (OMIM ) phenotypic association. SHEP8 (OMIM ) is associated with variation in the IRF4 gene (OMIM ). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM ) influences the SHEP9 association (OMIM ). The SHEP10 association (OMIM ) comprises variation in the TPCN2 gene (OMIM ), and SHEP11 (OMIM ) is associated with polymorphism near the TYRP1 gene (OMIM ).

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


Potential gene panels for OCA2 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

OCA2 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the OCA2 gene.

More info about this panel

OCA2 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the OCA2 gene.

More info about this panel

OCA2 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the OCA2 gene.

More info about this panel

OCA2 Targeted Deletion Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the OCA2 gene.

More info about this panel

OCA2 Targeted Deletion Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the OCA2 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

Oculocutaneous Albinism Type 2 - OCA2 Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the OCA2 gene.

More info about this panel

Oculocutaneous albinism, Type 1, 2, 3, 4, 6, 7, NGS panel Panel

Denmark.

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 panel

Oculocutaneous albinism type 2 Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet

This panel specifically test the OCA2 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

OCA2 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the OCA2 gene.

More info about this panel

OCA2. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the OCA2 gene.

More info about this panel

OCA2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the OCA2 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

Albinism oculocutaneous type II (deletion on OCA2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the OCA2 gene.

More info about this panel

Albinism oculocutaneous type II (sequence analysis of OCA2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the OCA2 gene.

More info about this panel

Oculocutaneous Albinism Type 2 Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the OCA2 gene.

More info about this panel

Albinism - OCA2 sequencing P gene Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the OCA2 gene.

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

Oculocutaneous Albinism Type 2 (OCAII) via the OCA2 Known Intragenic Gross Deletion Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the OCA2 gene.

More info about this panel

Oculocutaneous Albinism Type 2 (OCAII) via OCA2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the OCA2 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

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, oculocutaneous type II Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the OCA2 gene.

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 OCA2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the OCA2 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

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

Albinism, oculocutaneous II Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the OCA2 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

Albinism, oculocutaneous II Panel

Slovakia.

By MedGene

This panel specifically test the OCA2 gene.

More info about this panel

Oculocutaneous albinism type 2: OCA2 gene 2.7 kb deletion analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the OCA2 gene.

More info about this panel

Oculocutaneous albinism type 2: OCA2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the OCA2 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

OCA2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the OCA2 gene.

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

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

Oculocutaneous albinism type 2 Panel

Spain.

By Bioarray

This panel specifically test the OCA2 gene.

More info about this panel

Oculocutaneous albinism type 2 Panel

Spain.

By Bioarray

This panel specifically test the OCA2 gene.

More info about this panel

Albinism, oculocutaneous, type IA Panel

Spain.

By Bioarray

This panel specifically test the OCA2 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

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

OCULOCUTANEOUS ALBINISM Panel

Spain.

By Laboratorio de Genetica Clinica SL OCULOCUTANEOUS ALBINISM that also includes the following genes: TYR TYRP1 SLC45A2 SLC24A5 OCA2

More info about this panel

OCULOCUTANEOUS ALBINISM (OCA) Panel

Spain.

By Laboratorio de Genetica Clinica SL OCULOCUTANEOUS ALBINISM (OCA) that also includes the following genes: TYR TYRP1 SLC45A2 OCA2

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

Oculotaneous Albinism Type 2, Sequencing OCA2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the OCA2 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

Oculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

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 panel

Oculocutaneous Albinism Type 2: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the OCA2 gene.

More info about this panel

Oculocutaneous Albinism Type 2: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the OCA2 gene.

More info about this panel


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