Tay-sachs Disease; Tsd
Description
Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.
Clinical Features
Top most frequent phenotypes and symptoms related to Tay-sachs Disease; Tsd
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Ataxia
- Muscle weakness
- Spasticity
- Peripheral neuropathy
- Dysarthria
- Skeletal muscle atrophy
And another 75 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
Tay-sachs Disease; Tsd Is also known as b variant gm2-gangliosidosis, gm2-gangliosidosis, type i, hexosaminidase a deficiency, hexa deficiency.
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.Tay-sachs Disease; Tsd Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
Ashkenazic Genetic Disease Panel.
By Baylor Miraca Genetics Laboratories (United States).
CFTR, HEXA, ELP1, ASPA
Specificity
25 %
Genes
100 % |
HEXA Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
HEXA
Specificity
100 %
Genes
100 % |
HEXA Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
HEXA
Specificity
100 %
Genes
100 % |
HEXA Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
HEXA
Specificity
100 %
Genes
100 % |
Tay - Sachs Disease Ashkenazic Mutation Panel.
By Baylor Miraca Genetics Laboratories (United States).
HEXA
Specificity
100 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
You can get up to 118 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS; PNMHH EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2 AROMATASE EXCESS SYNDROME; AEXS KUFOR-RAKEB SYNDROME; KRS MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5