Tay-Sachs Disease

Alternative Names

  • TSD
  • Gangliosidosis, Type I
  • B Variant GM2-Gangliosidosis
  • Hexosaminidase A Deficiency
  • HEXA Deficiency
  • Tay-Sachs Disease, Juvenile
  • Hexosaminidase A Deficiency, Adult Type
  • GM2-Gangliosidosis, Adult Chronic Type
  • Tay-Sachs Disease, Variant B1
  • Tay-Sachs Disease, Pseudo-AB Variant

Associated Genes

Hexosaminidase A
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

272800

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q23

Description

Tay-Sachs disease (TSD) is a rare, autosomally inherited, lysosomal storage disorder, characterized by neuronal and cerebellar degeneration, and progressive atrophy of the brain.  The severe infantile form is charectreized by developmental delays, hypotonia, seizures, blindness, deafness, and paralysis. 

TSD is a GM2 gangliosidosis, a disorder in which a lipid called GM2 ganglioside accumulates in neuronal cells.  Mutations in the HEXA gene result in TSD, whereas mutations in the HEXB gene result in its near-twin, Sandhoff Disease.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
272800.1.1PalestineMaleYesYesNM_000521.3:c.1627G>AHomozygousAutosomal, RecessiveNarkis et al. 1997
272800.1.2PalestineFemaleYesYesNM_000521.3:c.1627G>AHomozygousAutosomal, RecessiveNarkis et al. 1997 First degree cousin ...
272800.1.3PalestineMaleNM_000521.3:c.1627G>AHeterozygousAutosomal, RecessiveNarkis et al. 1997 Maternal uncle of 27...
272800.1.4PalestineMaleYesNM_000521.3:c.1627G>AHeterozygousAutosomal, RecessiveNarkis et al. 1997 Father of 272800.1.1
272800.1.5PalestineFemaleYesNM_000521.3:c.1627G>AHeterozygousAutosomal, RecessiveNarkis et al. 1997 Mother of 272800.1.1
272800.3.1KuwaitUnknownYesYes Global developmental delay; Cherry red s...NM_000520.5:c.1511G>AHomozygousAutosomal, RecessiveSamilchuk, 2005 Family with at least...
272800.3.2KuwaitUnknownYesYes Global developmental delay; Cherry red s...NM_000520.5:c.1511G>AHomozygousAutosomal, RecessiveSamilchuk, 2005
272800.4LebanonFemaleYes Progressive spasticity; Ataxia; Mental...NM_000520.5:c.1511G>AHeterozygousAutosomal, RecessiveBoustany et al, 1991 Variant absent in fa...
272800.5.1LebanonMaleYesYes Global developmental delay; Cherry red s...NM_000520.5:c.749G>THomozygousAutosomal, RecessiveTrop et al. 1992 Sibling of 272800.5....
272800.5.2LebanonMaleYesYes Global developmental delay; Cherry red s...NM_000520.5:c.749G>THomozygousAutosomal, RecessiveTrop et al. 1992 Sibling of 272800.5....
272800.6.1MoroccoFemaleNoYes Global developmental delay; Cherry red s...NM_000520.5:c.910_912delTTC, NM_000520.5:c.540C>GHeterozygousAutosomal, RecessiveNavon and Proia, 1991 Moroccan Jew; Compou...
272800.11Saudi Arabia Global developmental delay; Cherry red s...NM_000520.5:c.1511G>AHomozygousAutosomal, RecessiveKaya et al. 2011
272800.12Saudi ArabiaUnknown Global developmental delay; Cherry red s...NM_000520.5:c.78G>AHomozygousAutosomal, RecessiveKaya et al. 2011
272800.13Saudi ArabiaUnknown Global developmental delay; Cherry red s...NM_000520.5:c.1528C>THomozygousAutosomal, RecessiveKaya et al. 2011
272800.14Saudi ArabiaUnknown Global developmental delay; Cherry red s...NM_000520.5:c.1528C>THomozygousAutosomal, RecessiveKaya et al. 2011
272800.15PalestineUnknownNo Global developmental delay; Paralysis; C...NM_000520.5:c.78G>A, NM_000520.5:c.533G>AHeterozygousAutosomal, RecessiveKaya et al. 2011 Compound heterozygou...
272800.16SyriaUnknownYes Global developmental delay; Cherry red s...NM_000520.5:c.496C>GHeterozygousAutosomal, RecessivePeleg et al. 1995 Compound heterozygou...
272800.20United Arab EmiratesFemaleYesYes Global Developmental delay; Failure to t...NM_000520.6:c.2T>CHomozygousAutosomal, RecessiveAl-Shamsi et al. 2016; Saleh et al. 2021 Affected cousin

Other Reports

Egypt

The Centre for Arab Genomic Studies Work Group (2006) in a retrospective study for metabolic disorders described at AlWasl Hospital in Dubai between 1997 and 2006 identified a 9-month-old Egyptian girl  heterozygous for the disease.

Oman

Joshi et al. (2002) carried out a retrospective analysis of all patients born with inborn errors of metabolism in Oman between June 1998 and December 2000. Among 82 patients, only one child was diagnosed with Tay Sachs disease

Syria

The Centre for Arab Genomic Studies Work Group (2006) conducted a retrospective study for metabolic disorders described at AlWasl Hospital in Dubai between 1997 and 2006. Only one case of Tay-Sachs disease was observed in a 1-year-old Syrian boy.

United Arab Emirates

In a study by Al-Jasmi et al. (2013) on lysosomal disorders in the UAE, Seven patients with Tay Sachs disease were identified. Three of these patients were Emiratis, giving a birth prevalence of 0.74 per 100,000 for Emiratis.

Yemen

The Centre for Arab Genomic Studies Work Group (2006) in a retrospective study for metabolic disorders described at AlWasl Hospital in Dubai between 1997 and 2006 identified a 25-day-old Yemeni girl heterozygous for the disease.

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