NMNAT1 gene related symptoms and diseases
All the information presented here about the NMNAT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NMNAT1 gene
Symptoms // Phenotype | % Cases |
---|---|
Photophobia | Very Common - Between 80% and 100% cases |
Visual impairment | Very Common - Between 80% and 100% cases |
Nystagmus | Common - Between 50% and 80% cases |
Abnormal electroretinogram | Common - Between 50% and 80% cases |
Blindness | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with NMNAT1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Visual loss
- Abnormality of retinal pigmentation
- Nyctalopia
- Hypermetropia
- Retinal degeneration
- Congenital blindness
Not very common - Between 30% and 50% cases
- Low anterior hairline
- Exotropia
And 58 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NMNAT1 gene
Here you will find a list of rare diseases related to the NMNAT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LEBER CONGENITAL AMAUROSIS 9; LCA9
Description
Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by Koenekoop et al., 2012). NMNAT1 (OMIM ) mutations consistently cause severe and rapidly progressive macular degeneration leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve (Perrault et al., 2012).
Most common symptoms of LEBER CONGENITAL AMAUROSIS 9; LCA9
- Nystagmus
- Visual impairment
- Optic atrophy
- Blindness
- Visual loss
More info about LEBER CONGENITAL AMAUROSIS 9; LCA9
LEBER CONGENITAL AMAUROSIS
Alternate names
LEBER CONGENITAL AMAUROSIS Is also known as crb, amaurosis congenita of leber i, lca, amaurosis congenita of leber, retinal blindness, congenital
Description
Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.
Most common symptoms of LEBER CONGENITAL AMAUROSIS
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Growth delay
More info about LEBER CONGENITAL AMAUROSIS
CONE ROD DYSTROPHY
Alternate names
CONE ROD DYSTROPHY Is also known as human retinal gene 4, hrg4
Description
Cone rod dystrophies (CRDs) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies.
Most common symptoms of CONE ROD DYSTROPHY
- Visual impairment
- Photophobia
- Nyctalopia
- Retinal degeneration
- Abnormality of retinal pigmentation
More info about CONE ROD DYSTROPHY
Search interest in NMNAT1
Potential gene panels for NMNAT1 gene
Leber Congential Amaurosis Panel (MitomeNGS) Panel
By Baylor Miraca Genetics Laboratories Leber Congential Amaurosis Panel (MitomeNGS) that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
More info about this panelNMNAT1 Familial Mutation/Variant Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the NMNAT1 gene.
More info about this panelNMNAT1 Prenatal Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the NMNAT1 gene.
More info about this panelNMNAT1 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the NMNAT1 gene.
More info about this panelLeber Congenital Amaurosis Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7 CRB1
More info about this panelNMNAT1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the NMNAT1 gene.
More info about this panelLeber congenital amaurosis (NGS panel for 20 genes) Panel
By CGC Genetics Leber congenital amaurosis (NGS panel for 20 genes) that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelLeber congenital amaurosis 9 (LCA9, sequence analysis of NMNAT1 gene) Panel
By CGC Genetics
This panel specifically test the NMNAT1 gene.
More info about this panelRetinitis pigmentosa (NGS panel for 72 genes) Panel
By CGC Genetics Retinitis pigmentosa (NGS panel for 72 genes) that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panelRetinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) Panel
By CGC Genetics Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A
More info about this panelLeber Congenital Amaurosis Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Leber Congenital Amaurosis Sequencing Panel with CNV Detection that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 INPP5E CNGA3
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 panelFocused Inherited Retinal Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Focused Inherited Retinal Disorders Sequencing Panel with CNV Detection that also includes the following genes: RHO RP1 RPE65 TULP1 USH2A RPGRIP1 CABP4 PRPF8 NMNAT1 CHM
More info about this panelLeber congenital amaurosis and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Comprehensive panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panelLeber congenital amaurosis and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders Deletion / Duplication panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panelLeber congenital amaurosis and related disorders NGS panel Panel
By Connective Tissue Gene Tests Leber congenital amaurosis and related disorders NGS panel that also includes the following genes: ROM1 RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 CLUAP1 RD3 RDH12 SPATA7
More info about this panelLeber congenital amaurosis type 9 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the NMNAT1 gene.
More info about this panelRetinitis pigmentosa, autosomal recessive and X-linked Panel Panel
By CeGaT GmbH Retinitis pigmentosa, autosomal recessive and X-linked Panel that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A
More info about this panelLeber Congenital Amaurosis Panel Panel
By CeGaT GmbH Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelLeber Congenital Amaurosis Panel
By Asper Biogene Asper Biogene LLC Leber Congenital Amaurosis that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX CEP290
More info about this panelEye diseases comprehensive panel Panel
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel 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 panelLeber congenital amaurosis panel Panel
By Molecular Vision Laboratory Leber congenital amaurosis panel that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX
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 panelInvitae Leber Congenital Amaurosis Panel Panel
By Invitae Invitae Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelLeber Congenital Amaurosis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leber Congenital Amaurosis that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
More info about this panelNMNAT1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NMNAT1 gene.
More info about this panelRetinal Dystrophy Panel Panel
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panelLeber Congenital Amaurosis Panel Panel
By Blueprint Genetics Leber Congenital Amaurosis Panel that also includes the following genes: RPE65 CWC27 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 CNGA3
More info about this panelRetinitis Pigmentosa Panel Panel
By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27
More info about this panelLEBER CONGENITAL AMAUROSIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL LEBER CONGENITAL AMAUROSIS NGS PANEL that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 PMPCA RD3 RDH12 SPATA7 CRB1
More info about this panelLeber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes Panel
By Reference Laboratory Genetics Leber Congenital Amaurosis , Panel Massive Sequencong (NGS) 17 Genes that also includes the following genes: RPE65 TULP1 RPGRIP1 NMNAT1 RD3 RDH12 SPATA7 CRB1 CRX IQCB1
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