HMCN1 gene related symptoms and diseases
All the information presented here about the HMCN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HMCN1 gene
Symptoms // Phenotype | % Cases |
---|---|
Cataract | Very Common - Between 80% and 100% cases |
Macular degeneration | Very Common - Between 80% and 100% cases |
Foveal hypopigmentation | Very Common - Between 80% and 100% cases |
Polypoidal choroidal vasculopathy | Very Common - Between 80% and 100% cases |
Macular drusen | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with HMCN1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Geographic atrophy
- Choroidal neovascularization
- Drusen
- Gout
- Emphysema
- Abnormality of the cardiovascular system
- Visual impairment
- Progressive visual loss
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HMCN1 gene
Here you will find a list of rare diseases related to the HMCN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
Alternate names
MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 Is also known as maculopathy, age-related, 1
Description
Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007).
Most common symptoms of MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
- Cataract
- Visual impairment
- Hypertension
- Blindness
- Visual loss
More info about MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
Search interest in HMCN1
Potential gene panels for HMCN1 gene
Macular Degeneration Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Macular Degeneration Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RAX2 IMPG2 HMCN1
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelRetinal Dystrophy Panel Panel
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelMVL Vision Panel Panel
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panelEye Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panelMacular Degeneration NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Macular Degeneration NGS Panel that also includes the following genes: RLBP1 RPGR CFB TLR4 C2 C3 ELOVL4 RAX2 HMCN1 CNGB3
More info about this panelHMCN1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HMCN1 gene.
More info about this panelMacular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes Panel
By Reference Laboratory Genetics Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: CFB C2 C3 C9 RAX2 HMCN1 CST3 CX3CR1 ARMS2 ABCA4
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