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.

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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.


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Tay-sachs Disease; Tsd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %

We have 118 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1 ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B HEART-HAND SYNDROME, SLOVENIAN TYPE DYSTONIA 16; DYT16 CRANIOFACIAL-DEAFNESS-HAND SYNDROME; CDHS BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

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