LRMDA gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to LRMDA gene

Symptoms // Phenotype % Cases
Nystagmus Very Common - Between 80% and 100% cases
Photophobia Very Common - Between 80% and 100% cases
Albinism Very Common - Between 80% and 100% cases

Rare diseases associated to LRMDA gene

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


OCULOCUTANEOUS ALBINISM TYPE 7


Alternate names

OCULOCUTANEOUS ALBINISM TYPE 7 Is also known as oca7

Description

Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA; see this term) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.

Most common symptoms of OCULOCUTANEOUS ALBINISM TYPE 7

  • Nystagmus
  • Photophobia
  • Albinism


More info about OCULOCUTANEOUS ALBINISM TYPE 7

SOURCES: ORPHANET OMIM


Potential gene panels for LRMDA gene

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 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

OCA7 C10orf11 Panel

Denmark.

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

This panel specifically test the LRMDA 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

Albinism oculocutaneous type VII (sequence analysis of C10orf11 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the LRMDA 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

Oculocutaneous Albinism Type 7 (OCAVII) via LRMDA (C10orf11) Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the LRMDA 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 oculocutaneous type V Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LRMDA gene.

More info about this panel

Albinism, oculocutaneous type 5 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LRMDA 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 C10orf11 Panel

Germany.

By CeGaT GmbH

This panel specifically test the LRMDA 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 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

C10orf11 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LRMDA 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

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

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

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


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