Alpha-n-acetylgalactosaminidase 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.
Genes related to Alpha-n-acetylgalactosaminidase Deficiency Type 1
- NAGA
Clinical Features
Top most frequent phenotypes and symptoms related to Alpha-n-acetylgalactosaminidase Deficiency Type 1
- Seizures
- Global developmental delay
- Hearing impairment
- Nystagmus
- Strabismus
- Muscle weakness
- Muscular hypotonia
- Spasticity
- Peripheral neuropathy
- Hepatomegaly
And another 20 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Alpha-n-acetylgalactosaminidase Deficiency Type 1 Is also known as schindler disease type 1, naga deficiency type 1.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Alpha-n-acetylgalactosaminidase Deficiency Type 1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Lysosomal Storage Disease Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...)
View the complete list with 54 more genes
Specificity
2 %
Genes
100 % |
Lysosomal Storage Disease Panel.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).
SGSH, SLC17A5, SMPD1, MCOLN1, NPC2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, GNPTG, CTNS, CTSD, CTSK, HGSNAT, MFSD8, GNPTAB, AGA , (...)
View the complete list with 30 more genes
Specificity
2 %
Genes
100 % |
Lymphedema NGS Multi-Gene Panel (36 Genes).
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).
BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS , (...)
View the complete list with 16 more genes
Specificity
3 %
Genes
100 % |
Alpha-N-acetylgalactosaminidase deficiency (sequence analysis of NAGA gene).
By CGC Genetics (Portugal).
NAGA
Specificity
100 %
Genes
100 % |
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).
By CGC Genetics (Portugal).
SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)
View the complete list with 88 more genes
Specificity
1 %
Genes
100 % |
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).
By CGC Genetics (Portugal).
SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)
View the complete list with 88 more genes
Specificity
1 %
Genes
100 % |
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)
View the complete list with 202 more genes
Specificity
1 %
Genes
100 % |
Mental retardation - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)
View the complete list with 845 more genes
Specificity
1 %
Genes
100 % |
You can get up to 15 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL; VMCM RAMON SYNDROME LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1 BLOOD GROUP, VEL SYSTEM; VEL