NAGA gene related symptoms and diseases
All the information presented here about the NAGA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NAGA gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Common - Between 50% and 80% cases |
| Strabismus | Common - Between 50% and 80% cases |
| Lymphedema | Common - Between 50% and 80% cases |
| Hepatomegaly | Common - Between 50% and 80% cases |
| Autism | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with NAGA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypertrophic cardiomyopathy
- Hearing impairment
- Vertigo
- Seizures
- Peripheral neuropathy
Not very common - Between 30% and 50% cases
- Intellectual disability
- Telangiectasia of the skin
- Cerebral visual impairment
And 77 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NAGA gene
Here you will find a list of rare diseases related to the NAGA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3
Alternate names
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3 Is also known as naga deficiency type 3, schindler disease type 3
Description
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency (see this term) with developmental, neurologic and psychiatric manifestations presenting at an intermediate age.
Most common symptoms of ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3
- Intellectual disability
- Seizures
- Global developmental delay
- Strabismus
- Cataract
More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 3
SOURCES: ORPHANET
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1
Alternate names
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1, naga deficiency type 1
Description
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.
Most common symptoms of ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1
- Seizures
- Global developmental delay
- Hearing impairment
- Nystagmus
- Strabismus
More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1
SOURCES: ORPHANET
SCHINDLER DISEASE, TYPE I
Alternate names
SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type, naga deficiency, type i, alpha-n-acetylgalactosaminidase deficiency, type i
Description
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).
Most common symptoms of SCHINDLER DISEASE, TYPE I
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about SCHINDLER DISEASE, TYPE I
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2
Alternate names
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii, kanzaki disease, naga deficiency, type ii, adult-onset alpha-n-acetylgalactosaminidase deficiency, naga deficiency type 2, schindler disease type 2, alpha-n-acetylgalactosaminidase deficiency, adult-onset, sch
Description
Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.
Most common symptoms of ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2
- Hearing impairment
- Sensorineural hearing impairment
- Muscle weakness
- Cognitive impairment
- Depressed nasal bridge
More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2
Search interest in NAGA
Potential gene panels for NAGA gene
Lysosomal Storage Disease Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1
More info about this panel United States.
Lysosomal Storage Disease Panel Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel Argentina.
Lymphedema NGS Multi-Gene Panel (36 Genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1
More info about this panel Netherlands.
Alpha-N-acetylgalactosaminidase deficiency (sequence analysis of NAGA gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NAGA gene.
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Schindler disease Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NAGA gene.
More info about this panel Germany.
Lysosomal Storage Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Lysosomal Storage Disease that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel Estonia.
Invitae Comprehensive Lysosomal Storage Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel United States.
Invitae Oligosaccharidoses Panel Panel
United States.
By Invitae Invitae Oligosaccharidoses Panel that also includes the following genes: SLC17A5 CTSK AGA FUCA1 MAN2B1 MANBA NAGA CTSA
More info about this panel United States.
Alpha-N-acetylgalactosaminidase deficiency: NAGA Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the NAGA gene.
More info about this panel United States.
Lysosomal Storage Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3
More info about this panel United States.
Inherited Metabolic Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panel United States.
Lysosomal Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
NAGA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NAGA gene.
More info about this panel United States.
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel
Finland.
By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
Spain.
By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5
More info about this panel Spain.
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
Spain.
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
More info about this panel Spain.
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