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
Search interest in LRMDA
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 United States.
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 Denmark.
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 Denmark.
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.
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 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.
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 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.
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 Germany.
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 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 C10orf11 Panel
Germany.
By CeGaT GmbH
This panel specifically test the LRMDA 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.
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.
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.
C10orf11 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LRMDA gene.
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.
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.
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.
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.
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 Spain.
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