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Tay-Sachs disease(TSD)

MedGen UID:
11713
Concept ID:
C0039373
Disease or Syndrome
Synonyms: GM2 gangliosidosis, type 1; HexA deficiency; Hexosaminidase A Deficiency; Hexosaminidase alpha-subunit deficiency (variant B); Sphingolipidosis, Tay-Sachs; TSD
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Tay-Sachs disease (111385000); Severe hexosaminidase A deficiency (111385000); TSD (111385000); GM>2< gangliosidosis, type 1 (111385000); Hexosaminidase A deficiency (111385000)
 
Gene (location): HEXA (15q23)
OMIM®: 272800
Orphanet: ORPHA845

Disease characteristics

Excerpted from the GeneReview: Hexosaminidase A Deficiency
Hexosaminidase A deficiency results in a group of neurodegenerative disorders caused by intralysosomal storage of the specific glycosphingolipid, GM2 ganglioside. The prototype hexosaminidase A deficiency is Tay-Sachs disease, also known as the acute infantile variant. Tay-Sachs disease is characterized by progressive weakness, loss of motor skills, decreased attentiveness, and increased startle response beginning between ages three and six months with progressive evidence of neurodegeneration including: seizures, blindness, spasticity, eventual total incapacitation, and death, usually before age four years. The juvenile (subacute), chronic, and adult-onset variants of hexosaminidase A deficiency have later onsets, slower progression, and more variable neurologic findings, including: progressive dystonia, spinocerebellar degeneration, motor neuron disease, and, in some individuals with adult-onset disease, a bipolar form of psychosis. [from GeneReviews]
Authors:
Michael M Kaback  |  Robert J Desnick   view full author information

Additional descriptions

From OMIM
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.  http://www.omim.org/entry/272800
From GHR
Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood.Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.  https://ghr.nlm.nih.gov/condition/tay-sachs-disease

Clinical features

Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Apathy
MedGen UID:
39083
Concept ID:
C0085632
Mental or Behavioral Dysfunction
An emotional state of indifference characterized by a lack of interest or concern.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Finding
Blindness is the condition of lacking visual perception due to physiological or neurological factors.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Exaggerated startle response
MedGen UID:
329357
Concept ID:
C1740801
Finding
An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.
Poor head control
MedGen UID:
322809
Concept ID:
C1836038
Finding
Difficulty to maintain correct position of the head while standing or sitting.
Psychomotor deterioration
MedGen UID:
373191
Concept ID:
C1836842
Finding
Loss of previously present mental and motor abilities.
GM2-ganglioside accumulation
MedGen UID:
341335
Concept ID:
C1848920
Finding
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Cherry red spot of the macula
MedGen UID:
786046
Concept ID:
C2216370
Finding
Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.
Aspiration
MedGen UID:
751786
Concept ID:
C2712334
Finding
Inspiration of a foreign object into the airway.

Professional guidelines

PubMed

ACOG Committee on Genetics.
Obstet Gynecol 2009 Oct;114(4):950-3. doi: 10.1097/AOG.0b013e3181bd12f4. PMID: 19888064
Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee.
Genet Med 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c. PMID: 18197057Free PMC Article

Recent clinical studies

Etiology

Hussein N, Weng SF, Kai J, Kleijnen J, Qureshi N
Cochrane Database Syst Rev 2015 Aug 12;(8):CD010849. doi: 10.1002/14651858.CD010849.pub2. PMID: 26264938
Jalal K, Carter RL
Biom J 2015 Sep;57(5):885-96. Epub 2015 Jun 16 doi: 10.1002/bimj.201400008. PMID: 26080753
Lew RM, Burnett L, Proos AL, Barlow-Stewart K, Delatycki MB, Bankier A, Aizenberg H, Field MJ, Berman Y, Fleischer R, Fietz M
J Paediatr Child Health 2015 Mar;51(3):271-9. Epub 2014 Jun 13 doi: 10.1111/jpc.12632. PMID: 24923490
Lew RM, Proos AL, Burnett L, Delatycki M, Bankier A, Fietz MJ
Med J Aust 2012 Dec 10;197(11):652-4. PMID: 23230938
Zampieri S, Montalvo A, Blanco M, Zanin I, Amartino H, Vlahovicek K, Szlago M, Schenone A, Pittis G, Bembi B, Dardis A
Gene 2012 May 15;499(2):262-5. Epub 2012 Mar 13 doi: 10.1016/j.gene.2012.03.022. PMID: 22441121

Diagnosis

Güngör O, Güngör G, Yurttutan N, Dilber C
Acta Neurol Belg 2016 Jun;116(2):195-7. Epub 2015 Sep 4 doi: 10.1007/s13760-015-0538-5. PMID: 26338066
Lew RM, Burnett L, Proos AL, Barlow-Stewart K, Delatycki MB, Bankier A, Aizenberg H, Field MJ, Berman Y, Fleischer R, Fietz M
J Paediatr Child Health 2015 Mar;51(3):271-9. Epub 2014 Jun 13 doi: 10.1111/jpc.12632. PMID: 24923490
Abalem MF, Francischini S, Carricondo PC, Graziano RM
JAMA Ophthalmol 2014 Jul;132(7):876. doi: 10.1001/jamaophthalmol.2013.5700. PMID: 24852271
Jamali S, Eskandari N, Aryani O, Salehpour S, Zaman T, Kamalidehghan B, Houshmand M
Iran Biomed J 2014;18(2):114-9. PMID: 24518553Free PMC Article
Deik A, Saunders-Pullman R
Muscle Nerve 2014 May;49(5):768-71. Epub 2014 Feb 24 doi: 10.1002/mus.24146. PMID: 24327357Free PMC Article

Therapy

Hussein N, Weng SF, Kai J, Kleijnen J, Qureshi N
Cochrane Database Syst Rev 2015 Aug 12;(8):CD010849. doi: 10.1002/14651858.CD010849.pub2. PMID: 26264938
Hayase T, Shimizu J, Goto T, Nozaki Y, Mori M, Takahashi N, Namba E, Yamagata T, Momoi MY
Brain Dev 2010 Mar;32(3):244-7. Epub 2009 Mar 10 doi: 10.1016/j.braindev.2009.01.007. PMID: 19278800
Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH
Genet Med 2009 Jun;11(6):425-33. doi: 10.1097/GIM.0b013e3181a1b5c5. PMID: 19346952
Shapiro BE, Hatters-Friedman S, Fernandes-Filho JA, Anthony K, Natowicz MR
Neurology 2006 Sep 12;67(5):875-7. doi: 10.1212/01.wnl.0000233847.72349.b6. PMID: 16966555
Bembi B, Marchetti F, Guerci VI, Ciana G, Addobbati R, Grasso D, Barone R, Cariati R, Fernandez-Guillen L, Butters T, Pittis MG
Neurology 2006 Jan 24;66(2):278-80. doi: 10.1212/01.wnl.0000194225.78917.de. PMID: 16434676

Prognosis

Zeesman S, McCready E, Sadikovic B, Nowaczyk MJ
Am J Med Genet A 2015 Jan;167A(1):180-4. Epub 2014 Oct 6 doi: 10.1002/ajmg.a.36790. PMID: 25287655
Lew RM, Burnett L, Proos AL, Barlow-Stewart K, Delatycki MB, Bankier A, Aizenberg H, Field MJ, Berman Y, Fleischer R, Fietz M
J Paediatr Child Health 2015 Mar;51(3):271-9. Epub 2014 Jun 13 doi: 10.1111/jpc.12632. PMID: 24923490
Jamali S, Eskandari N, Aryani O, Salehpour S, Zaman T, Kamalidehghan B, Houshmand M
Iran Biomed J 2014;18(2):114-9. PMID: 24518553Free PMC Article
Lew RM, Proos AL, Burnett L, Delatycki M, Bankier A, Fietz MJ
Med J Aust 2012 Dec 10;197(11):652-4. PMID: 23230938
Haghighi A, Rezazadeh J, Shadmehri AA, Haghighi A, Kornreich R, Desnick RJ
J Hum Genet 2011 Sep;56(9):682-4. Epub 2011 Jul 28 doi: 10.1038/jhg.2011.78. PMID: 21796138

Clinical prediction guides

Dersh D, Iwamoto Y, Argon Y
Mol Biol Cell 2016 Dec 1;27(24):3813-3827. Epub 2016 Sep 28 doi: 10.1091/mbc.E16-01-0012. PMID: 27682588Free PMC Article
Nakamura S, Saito Y, Ishiyama A, Sugai K, Iso T, Inagaki M, Sasaki M
Brain Dev 2015 Jan;37(1):101-6. Epub 2014 Feb 15 doi: 10.1016/j.braindev.2014.01.011. PMID: 24534057
Jamali S, Eskandari N, Aryani O, Salehpour S, Zaman T, Kamalidehghan B, Houshmand M
Iran Biomed J 2014;18(2):114-9. PMID: 24518553Free PMC Article
Lew RM, Proos AL, Burnett L, Delatycki M, Bankier A, Fietz MJ
Med J Aust 2012 Dec 10;197(11):652-4. PMID: 23230938
Shapiro BE, Pastores GM, Gianutsos J, Luzy C, Kolodny EH
Genet Med 2009 Jun;11(6):425-33. doi: 10.1097/GIM.0b013e3181a1b5c5. PMID: 19346952

Recent systematic reviews

Nair M, Sandhu SS, Sharma AK
Curr Med Chem 2017;24(39):4368-4398. doi: 10.2174/0929867324666170727100508. PMID: 28748763
Committee on Genetics.
Obstet Gynecol 2017 Mar;129(3):e41-e55. doi: 10.1097/AOG.0000000000001952. PMID: 28225426
Hussein N, Weng SF, Kai J, Kleijnen J, Qureshi N
Cochrane Database Syst Rev 2015 Aug 12;(8):CD010849. doi: 10.1002/14651858.CD010849.pub2. PMID: 26264938
Lew RM, Burnett L, Proos AL, Barlow-Stewart K, Delatycki MB, Bankier A, Aizenberg H, Field MJ, Berman Y, Fleischer R, Fietz M
J Paediatr Child Health 2015 Mar;51(3):271-9. Epub 2014 Jun 13 doi: 10.1111/jpc.12632. PMID: 24923490
ACOG Committee on Genetics.
Obstet Gynecol 2004 Aug;104(2):425-8. PMID: 15292027

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