Sialidosis Type 1
Description
Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.
Clinical Features
Top most frequent phenotypes and symptoms related to Sialidosis Type 1
- Intellectual disability
- Seizures
- Short stature
- Scoliosis
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
- Muscle weakness
- Muscular hypotonia
- Cataract
And another 32 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
Sialidosis Type 1 Is also known as cherry-red spot-myoclonus syndrome, normomorphic sialidosis, lipomucopolysaccharidosis.
Researches and researchers
Doctors, researchs, and experts related to Sialidosis Type 1 extracted from public data.
Sialidosis Type 1 Experts map
Current Researchs and researchers
-
LYON — Dr Marie-Thérèse VANIER
Coordinator of research network
-
Institution/s:
— INSERM U 820, Faculté de médecine - RTH Laënnec -
Research area/topic::
Réseau sur les maladies de surcharge lysosomales
-
Institution/s:
Sialidosis Type 1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Non-immune Hydrops Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)
View the complete list with 66 more genes
Specificity
2 %
Genes
100 % |
Sialidosis.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
NEU1
Specificity
100 %
Genes
100 % |
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 % |
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
Epilepsy Panel - Comprehensive.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).
SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, SPTAN1, CDKL5, STXBP1, SUOX, SYNGAP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CERS1, PCDH19 , (...)
View the complete list with 49 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 % |
NEU1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
NEU1
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 % |
You can get up to 37 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WEST SYNDROME NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NLSDM LATERAL MENINGOCELE SYNDROME; LMNS SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD BIOTINIDASE DEFICIENCY STURGE-WEBER SYNDROME