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	tay-sachs disease

Disease ID	105
Disease	tay-sachs disease
Definition	An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry.
Synonym	b variant gm2 gangliosidosis b variant gm2-gangliosidoses b variant gm2-gangliosidosis defic dis hexosaminidase a deficiency disease hexosaminidase a deficiency hexosaminidase disease sach tay disease sach's tay disease sachs tay disease tay sach disease tay sachs disease tay-sachs disease, tay-sachs diseases sachs tay diseases sachs tays diseases tay sachs g(m2) gangliosidosis, type i gangliosidosis g(m2), type i gangliosidosis gm 02 b variant gangliosidosis gm 02 type i gangliosidosis gm2 , type 1 gangliosidosis gm2 type 1 gangliosidosis gm2 type i gangliosidosis gm2, b variant gangliosidosis gm2, type i gm gangliosidosis 02 type i gm2 gangliosidosis type i gm2 gangliosidosis, b variant gm2 gangliosidosis, type 1 gm2 gangliosidosis, type i gm2-gangliosidosis, b variant gm2-gangliosidosis, type i gm₂ gangliosidosis, type 1 gm>2< gangliosidosis, type 1 hexa deficiency hexosaminidase a defic dis hexosaminidase a deficiency hexosaminidase a deficiency disease infantile ganglioside lipidosis lipidosis, ganglioside, infantile severe hexosaminidase a deficiency sphingolipidosis, tay sachs sphingolipidosis, tay-sachs tay sach's disease tay sachs dis tay sachs disease tay sachs disease, b variant tay-sachs disease (disorder) tay-sachs disease [disease/finding] tay-sachs disease, b variant tay-sachs sphingolipidosis tsd type i gm2-gangliosidosis
Orphanet	ORPHANET:845
OMIM	OMIM:272800
DOID	DOID:3320
ICD10	ICD10CM:E75.02
UMLS	C0039373
MeSH	D013661
SNOMED-CT	SNOMEDCT_US_2016_09_01:111385000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0028064 \| niemann-pick disease \| 1 C0236642 \| pick disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 2760 \| GM2A \| CLINVAR;UNIPROT 3073 \| HEXA \| CLINVAR;CTD_human;GHR;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 3073 \| HEXA \| CIPHER;CTD_human 3074 \| HEXB \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:32) 174 \| AFP \| 1.898 \| DISEASES 229 \| ALDOB \| 1.384 \| DISEASES 280 \| AMY2B \| 2.779 \| DISEASES 54840 \| APTX \| 1.654 \| DISEASES 85300 \| ATCAY \| 2.676 \| DISEASES 8706 \| B3GALNT1 \| 2.47 \| DISEASES 10871 \| CD300C \| 2.088 \| DISEASES 4850 \| CNOT4 \| 1.789 \| DISEASES 5476 \| CTSA \| 3.704 \| DISEASES 55157 \| DARS2 \| 2.683 \| DISEASES 1798 \| DPAGT1 \| 1.287 \| DISEASES 2108 \| ETFA \| 4.868 \| DISEASES 2632 \| GBE1 \| 1.443 \| DISEASES 2706 \| GJB2 \| 1.425 \| DISEASES 2760 \| GM2A \| 5.86 \| DISEASES 3476 \| IGBP1 \| 1.805 \| DISEASES 3482 \| IGF2R \| 1.128 \| DISEASES 80789 \| INTS5 \| 3.187 \| DISEASES 3748 \| KCNC3 \| 2.189 \| DISEASES 10724 \| MGEA5 \| 6.061 \| DISEASES 643680 \| MS4A4E \| 2.767 \| DISEASES 4668 \| NAGA \| 3.463 \| DISEASES 4758 \| NEU1 \| 2.242 \| DISEASES 129807 \| NEU4 \| 2.611 \| DISEASES 23467 \| NPTXR \| 1.748 \| DISEASES 8301 \| PICALM \| 1.413 \| DISEASES 5367 \| PMCH \| 1.665 \| DISEASES 5521 \| PPP2R2B \| 1.823 \| DISEASES 5660 \| PSAP \| 2.634 \| DISEASES 5730 \| PTGDS \| 1.37 \| DISEASES 26278 \| SACS \| 1.564 \| DISEASES 51366 \| UBR5 \| 1.534 \| DISEASES
Locus	(Waiting for update.)

Disease ID	105
Disease	tay-sachs disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:32) HP:0001263 \| Global developmental delay HP:0009058 \| Increased muscle lipid content HP:0002421 \| Poor head control HP:0002835 \| Aspiration HP:0000365 \| Hearing impairment HP:0002267 \| Exaggerated startle response HP:0002376 \| Developmental regression HP:0002205 \| Recurrent respiratory infections HP:0001257 \| Spasticity HP:0001251 \| Ataxia HP:0000618 \| Blindness HP:0002361 \| Psychomotor deterioration HP:0010729 \| Cherry red spot of the macula HP:0004374 \| Hemiplegia/hemiparesis HP:0001252 \| Hypotonia HP:0002353 \| EEG abnormality HP:0001250 \| Seizures HP:0000256 \| Macrocephaly HP:0000741 \| Apathy HP:0100022 \| Abnormality of movement HP:0000726 \| Dementia HP:0000648 \| Optic atrophy HP:0002240 \| Hepatomegaly HP:0002486 \| Myotonia HP:0001744 \| Splenomegaly HP:0000505 \| Visual impairment HP:0001347 \| Hyperreflexia HP:0003495 \| GM2-ganglioside accumulation HP:0010729 \| Macular cherry red spot HP:0002361 \| Psychomotor degeneration HP:0001252 \| Muscular hypotonia HP:0006887 \| Intellectual disability, progressive
Text Mined Phenotype	(Waiting for update.)

Disease ID	105
Disease	tay-sachs disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0036161 \| o variant
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:6)
Gene	Mutation	DOI	Article Title
HEXA	NM_000520.4: c.672+30T>G	doi:10.1038/gim.2016.153	A comprehensive strategy for exome-based preconception carrier screening
HEXA	c.1421+1G>C	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
HEXA	c.1274_1277dupTATC	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
HEXA	c.1277_1281 insTATC33,60,61	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
HEXA	c.1421+1G>C*	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
HEXA	p.G269S62	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:52)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121907952	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72345528	C	T
rs121907954	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72350518	C	T
rs121907957	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72353129	C	T
rs121907958	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346597	C	G
rs121907960	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72349153	GAA	-
rs121907961	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72351176	G	A
rs121907962	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72355562	G	A
rs121907963	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346680	G	A
rs121907964	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA;HEXA-AS1	15	72375895	C	T
rs121907965	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA;HEXA-AS1	15	72375972	T	G,C
rs121907966	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72345477	G	A
rs121907968	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72345519	A	G
rs121907969	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72353098	G	C,A
rs121907970	1384323	3073	HEXA	umls:C0039373	BeFree	We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele.	0.470660457	1992	HEXA	15	72350584	G	A
rs121907972	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72353130	G	A
rs121907974	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72351173	A	G
rs121907975	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72355591	A	C
rs121907976	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72351194	T	C
rs121907977	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72349163	A	C
rs121907978	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346296	C	T
rs121907979	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA;HEXA-AS1	15	72375857	A	C
rs147324677	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346234	C	G
rs1800429	1825792	3073	HEXA	umls:C0039373	UNIPROT	The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.	0.470660457	1991	HEXA	15	72351207	C	T
rs1800429	9090523	3073	HEXA	umls:C0039373	UNIPROT	Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.	0.470660457	1997	HEXA	15	72351207	C	T
rs199578185	14566483	3073	HEXA	umls:C0039373	UNIPROT	Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.	0.470660457	2003	HEXA	15	72349181	T	C
rs200926928	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72349076	T	C
rs267606862	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346681	C	T
rs28940871	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346305	G	C
rs28941770	9090523	3073	HEXA	umls:C0039373	UNIPROT	Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.	0.470660457	1997	HEXA	15	72353105	C	T,G,A
rs28941770	1825792	3073	HEXA	umls:C0039373	UNIPROT	The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.	0.470660457	1991	HEXA	15	72353105	C	T,G,A
rs28941770	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72353105	C	T,G,A
rs28941771	8757036	3073	HEXA	umls:C0039373	UNIPROT	Late-onset GM2 gangliosidosis is a variant form of Tay-Sachs disease characterized by onset of symptoms and signs in adolescence or in early adult life.	0.470660457	1996	HEXA	15	72353100	A	G
rs28942071	1837283	3073	HEXA	umls:C0039373	UNIPROT	Total RNA was isolated from cultured fibroblasts from 12 unrelated patients with Tay-Sachs disease, an autosomal recessive disorder due to beta-hexosaminidase A deficiency. beta-Hexosaminidase mRNA was amplified by cDNA-PCR in four overlapping segments spanning the entire coding sequence.	0.470660457	1991	HEXA	15	72345462	G	A
rs28942071	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72345462	G	A
rs370266293	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346679	C	T
rs387906309	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346579	-	GATA
rs387906949	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA;HEXA-AS1	15	72375800	C	T,A
rs587779405	NA	2760	GM2A	umls:C0039373	CLINVAR	NA	0.120542884	NA	GM2A	5	151266820	C	-
rs587779406	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346552	G	A
rs587779407	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72350604	-	A
rs748190164	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72356531	C	G
rs76173977	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72348047	C	T
rs766138785	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72347709	C	-
rs770932296	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72349266	C	T
rs777042785	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72346549	TA	-
rs778155650	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72349148	AAG	-
rs786204515	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72349117	-	T
rs786204585	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72344139	G	A
rs786204721	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA;HEXA-AS1	15	72375971	A	G
rs786204754	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72353067	C	T
rs797044432	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72356524	C	G
rs797044433	NA	3073	HEXA	umls:C0039373	CLINVAR	NA	0.470660457	NA	HEXA	15	72345462	G	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:10)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002421	Poor head control	MP:0011495	abnormal head shape	any anomaly in the characteristic surface outline or contour of a head of an organism
HP:0006887	Intellectual disability, progressive	MP:0000748	progressive muscle weakness	increasing loss of muscle strength over time
HP:0002267	Exaggerated startle response	MP:0002862	altered righting response	altered ability or changed amount of time needed to recover from an unnatural position to a normal position and/or to resist any force acting to place an organism into a false position
HP:0001263	Global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis
HP:0000648	Optic atrophy	MP:0012506	brain atrophy	acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan
HP:0100022	Abnormality of movement	MP:0005223	abnormal dorsal-ventral polarity of the somites	anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body
HP:0001252	Muscular hypotonia	MP:0004144	hypotonia	decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0010729	Cherry red spot of the macula	MP:0005060	accumulation of giant lysosomes in kidney/renal tubule cells	buildup of contents in lysosomes in cells of the kidney tubules
HP:0002205	Recurrent respiratory infections	MP:0014182	decreased respiratory epithelial sodium ion transmembrane transport	decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other
HP:0009058	Increased muscle lipid content	MP:0014071	increased cardiac muscle glycogen level	greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle

Mapped by homologous gene(Total Items:29)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001252	Muscular hypotonia	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002421	Poor head control	MP:0013504	increased embryonic tissue cell apoptosis	increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0003495	GM2-ganglioside accumulation	MP:0009969	abnormal cerebral cortex pyramidal cell morphology	any structural anomaly of the projection neurons in the pyramidal cell layer of the cerebral cortex
HP:0001250	Seizures	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002353	EEG abnormality	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0002205	Recurrent respiratory infections	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0002267	Exaggerated startle response	MP:0012146	increased b wave amplitude	increase in the size (height or maximum displacement) of the b wave as measured in the electroretinogram
HP:0000741	Apathy	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001347	Hyperreflexia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002240	Hepatomegaly	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0004374	Hemiplegia/hemiparesis	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002835	Aspiration	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001744	Splenomegaly	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000618	Blindness	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0006887	Intellectual disability, progressive	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0100022	Abnormality of movement	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001257	Spasticity	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0010729	Cherry red spot of the macula	MP:0014185	cerebellum atrophy	acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0009058	Increased muscle lipid content	MP:0014071	increased cardiac muscle glycogen level	greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle
HP:0001263	Global developmental delay	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002376	Developmental regression	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0000365	Hearing impairment	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001251	Ataxia	MP:0020301	short tongue	decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0002361	Psychomotor deterioration	MP:0013438	dysmyelination	reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin
HP:0002486	Myotonia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000726	Dementia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000256	Macrocephaly	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000505	Visual impairment	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000648	Optic atrophy	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l

Disease ID	105
Disease	tay-sachs disease
Case	(Waiting for update.)